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Entry
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- *176300 - TRANSTHYRETIN; TTR
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*176300</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#evolution">Evolution</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/176300">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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</div>
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000118271;t=ENST00000237014" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=7276" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=176300" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000118271;t=ENST00000237014" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000371" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000371" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=176300" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=01447&isoform_id=01447_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/TTR" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/37483,136464,189582,189584,219978,339685,340015,386998,386999,387000,847738,1336728,4261798,4507725,4572572,5533091,13529050,18089145,19569267,19569269,19569271,30583217,48145933,114319005,119621669,119621670,119621671,189065264,211948005,317040140,1471744300,2418551326,2418551328,2418551330,2418551332,2418551334,2418551336,2418551338,2418551340,2418551342" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P02766" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=7276" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000118271;t=ENST00000237014" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=TTR" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=TTR" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+7276" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/TTR" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:7276" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/7276" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr18&hgg_gene=ENST00000237014.8&hgg_start=31591877&hgg_end=31598821&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:12405" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/ttr" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=176300[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=176300[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/TTR/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000118271" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=TTR" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=TTR" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=TTR" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.ibmc.up.pt/mjsaraiva/ttrmut.html" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=TTR&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA37069" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:12405" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0050016.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:98865" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/TTR#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:98865" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/7276/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=7276" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00011181;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00011181 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00022808;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00022808 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-040927-14" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:176300" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
|
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7276" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=TTR&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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176300
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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TRANSTHYRETIN; TTR
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</span>
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</h3>
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</div>
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<div>
|
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<br />
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
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PREALBUMIN, THYROXINE-BINDING; TBPA<br />
|
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PALB
|
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</span>
|
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</h4>
|
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</div>
|
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=TTR" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TTR</a></em></strong>
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</span>
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/18/119?start=-3&limit=10&highlight=119">18q12.1</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr18:31591877-31598821&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">18:31,591,877-31,598,821</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
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Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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<span class="hidden-sm hidden-xs pull-right">
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Phenotype <br /> MIM number
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Inheritance
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18q12.1
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[Dystransthyretinemic hyperthyroxinemia]
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<a href="/entry/115430"> 115430 </a>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>Transthyretin (TTR) is an evolutionarily conserved serum and cerebrospinal fluid (CSF) protein that transports holo-retinol-binding protein (RBP; <a href="/entry/180250">180250</a>) and thyroxine (T4). It is a homotetrameric protein synthesized mainly in liver, choroid plexus, retinal pigment epithelium, and pancreas. Mutant and wildtype TTR give rise to various forms of amyloid deposition (amyloidosis), originally defined pathologically by the formation and aggregation of misfolded proteins which result in extracellular deposits that impair organ function. The clinical syndromes associated with TTR aggregation are familial amyloid polyneuropathy (FAP) and cardiomyopathy (FAC), in which mutant TTR protein aggregates in peripheral and autonomic nerves and heart, respectively; and senile systemic amyloidosis (SSA), a late-onset disorder in which wildtype protein deposits primarily in heart, but also in gut and carpal tunnel (summary by <a href="#34" class="mim-tip-reference" title="Buxbaum, J. N., Reixach, N. <strong>Transthyretin: the servant of many masters.</strong> Cell. Mol. Life Sci. 66: 3095-3101, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19644733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19644733</a>] [<a href="https://doi.org/10.1007/s00018-009-0109-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19644733">Buxbaum and Reixach, 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19644733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>This normal plasma protein was originally called 'prealbumin' or 'thyroxine-binding prealbumin' because it migrates ahead of albumin on standard protein electrophoresis. However, it has no structural relationship to albumin. Use of the term 'transthyretin' is recommended to avoid possible confusion with proalbumin (<a href="/entry/103600">103600</a>) and with other 'prealbumins.' The name transthyretin refers to the transport properties of the protein, which binds both thyroxine and retinol-binding protein (summary by <a href="#29" class="mim-tip-reference" title="Benson, M. D. <strong>Amyloidosis. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 5345-5378."None>Benson, 2001</a>).</p>
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<p>Using direct amino acid sequence analysis, <a href="#117" class="mim-tip-reference" title="Kanda, Y., Goodman, D. S., Canfield, R. E., Morgan, F. J. <strong>The amino acid sequence of human plasma prealbumin.</strong> J. Biol. Chem. 249: 6796-6805, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4607556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4607556</a>]" pmid="4607556">Kanda et al. (1974)</a> determined the complete sequence of plasma thyroxine-binding prealbumin (transthyretin). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4607556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#140" class="mim-tip-reference" title="Mita, S., Maeda, S., Shimada, K., Araki, S. <strong>Cloning and sequence analysis of cDNA for human prealbumin.</strong> Biochem. Biophys. Res. Commun. 124: 558-564, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6093805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6093805</a>] [<a href="https://doi.org/10.1016/0006-291x(84)91590-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6093805">Mita et al. (1984)</a> isolated transthyretin-specific cDNA clones from an adult human liver cDNA library. The mature protein consists of 127 residues after cleavage of a 20-amino acid signal peptide. Results were in agreement with those of <a href="#117" class="mim-tip-reference" title="Kanda, Y., Goodman, D. S., Canfield, R. E., Morgan, F. J. <strong>The amino acid sequence of human plasma prealbumin.</strong> J. Biol. Chem. 249: 6796-6805, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4607556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4607556</a>]" pmid="4607556">Kanda et al. (1974)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6093805+4607556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#257" class="mim-tip-reference" title="Whitehead, A. S., Skinner, M., Bruns, G. A. P., Costello, W., Edge, M. D., Cohen, A. S., Sipe, J. D. <strong>Cloning of human prealbumin complementary DNA: localization of the gene to chromosome 18 and detection of a variant prealbumin allele in a family with familial amyloid polyneuropathy.</strong> Molec. Biol. Med. 2: 411-423, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6100724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6100724</a>]" pmid="6100724">Whitehead et al. (1984)</a> isolated transthyretin-specific cDNA clones from an adult human liver library and found that the nucleotide sequence was identical to that reported by <a href="#140" class="mim-tip-reference" title="Mita, S., Maeda, S., Shimada, K., Araki, S. <strong>Cloning and sequence analysis of cDNA for human prealbumin.</strong> Biochem. Biophys. Res. Commun. 124: 558-564, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6093805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6093805</a>] [<a href="https://doi.org/10.1016/0006-291x(84)91590-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6093805">Mita et al. (1984)</a>. <a href="#255" class="mim-tip-reference" title="Wallace, M. R., Naylor, S. L., Kluve-Beckerman, B., Long, G. L., McDonald, L., Shows, T. B., Benson, M. D. <strong>Localization of the human prealbumin gene to chromosome 18.</strong> Biochem. Biophys. Res. Commun. 129: 753-758, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2990465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2990465</a>] [<a href="https://doi.org/10.1016/0006-291x(85)91956-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2990465">Wallace et al. (1985)</a> likewise isolated a cDNA clone. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2990465+6100724+6093805" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transthyretin molecule consists of a tetramer of identical 127-amino acid subunits. Transthyretin is a plasma transport protein for thyroxine (T4) and for retinol (vitamin A), through the association with retinol-binding protein (see RBP4, <a href="/entry/180250">180250</a>) (summary by <a href="#202" class="mim-tip-reference" title="Saraiva, M. J. M. <strong>Transthyretin mutations in hyperthyroxinemia and amyloid diseases.</strong> Hum. Mutat. 17: 493-503, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11385707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11385707</a>] [<a href="https://doi.org/10.1002/humu.1132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11385707">Saraiva, 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11385707" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#52" class="mim-tip-reference" title="Episkopou, V., Maeda, S., Nishiguchi, S., Shimada, K., Gaitanaris, G. A., Gottesman, M. E., Robertson, E. J. <strong>Disruption of the transthyretin gene results in mice with depressed levels of plasma retinol and thyroid hormone.</strong> Proc. Nat. Acad. Sci. 90: 2375-2379, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8384721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8384721</a>] [<a href="https://doi.org/10.1073/pnas.90.6.2375" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8384721">Episkopou et al. (1993)</a> demonstrated that the TTR protein maintains normal levels of retinol, retinol-binding protein, and thyroid hormone in the circulating plasma. Using gene targeting techniques, they generated a null mutation at the mouse Ttr locus. Although the resultant mutant animals were phenotypically normal, viable and fertile, they had significantly depressed levels of these serum metabolites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8384721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#213" class="mim-tip-reference" title="Shirahama, T., Skinner, M., Westermark, P., Rubinow, A., Cohen, A. S., Brun, A., Kemper, T. C. <strong>Senile cerebral amyloid. Prealbumin as a common constituent in the neuritic plaques, in the neurofibrillary tangle and in the microangiopathic lesion.</strong> Am. J. Path. 107: 41-50, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6950666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6950666</a>]" pmid="6950666">Shirahama et al. (1982)</a> reported that prealbumin is a constituent common to the neuritic plaques, neurofibrillary tangles, and microangiopathic lesions of senile cerebral amyloid. TTR represents a disproportionate fraction (25%) of CSF protein, prompting the suggestion that it is either selectively transported across the blood-CSF barrier or synthesized de novo within the central nervous system (CNS). <a href="#74" class="mim-tip-reference" title="Herbert, J., Wilcox, J. N., Pham, K.-T. C., Fremeau, R. T., Jr., Zeviani, M., Dwork, A., Soprano, D. R., Makover, A., Goodman, D. S., Zimmerman, E. A., Roberts, J. L., Schon, E. A. <strong>Transthyretin: a choroid plexus-specific transport protein in human brain.</strong> Neurology 36: 900-911, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3714052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3714052</a>] [<a href="https://doi.org/10.1212/wnl.36.7.900" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3714052">Herbert et al. (1986)</a> demonstrated that the latter is the case and that the epithelial cells of the choroid plexus are the site of synthesis in both rats and humans. It is curious that in amyloid polyneuropathy, amyloid deposits do not occur in the CNS, with the exception of the blood vessels. Within the CNS, TTR is the only known protein synthesized solely by the choroid plexus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6950666+3714052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>As reviewed by <a href="#176" class="mim-tip-reference" title="Ray, S. S., Lansbury, P. T., Jr. <strong>A possible therapeutic target for Lou Gehrig's disease. (Commentary)</strong> Proc. Nat. Acad. Sci. 101: 5701-5702, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15079068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15079068</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15079068[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0401934101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15079068">Ray and Lansbury (2004)</a>, TTR encodes a tetrameric protein that is responsible for carrying thyroxine (T4) in plasma and CSF. Two equivalents of T4 bind in symmetry-related sites in the central cavity of TTR. T4 binding stabilizes the TTR tetramer and slows the rate of tetramer dissociation, which is the rate-determining step of in vitro TTR fibril formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15079068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#257" class="mim-tip-reference" title="Whitehead, A. S., Skinner, M., Bruns, G. A. P., Costello, W., Edge, M. D., Cohen, A. S., Sipe, J. D. <strong>Cloning of human prealbumin complementary DNA: localization of the gene to chromosome 18 and detection of a variant prealbumin allele in a family with familial amyloid polyneuropathy.</strong> Molec. Biol. Med. 2: 411-423, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6100724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6100724</a>]" pmid="6100724">Whitehead et al. (1984)</a> and <a href="#255" class="mim-tip-reference" title="Wallace, M. R., Naylor, S. L., Kluve-Beckerman, B., Long, G. L., McDonald, L., Shows, T. B., Benson, M. D. <strong>Localization of the human prealbumin gene to chromosome 18.</strong> Biochem. Biophys. Res. Commun. 129: 753-758, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2990465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2990465</a>] [<a href="https://doi.org/10.1016/0006-291x(85)91956-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2990465">Wallace et al. (1985)</a> independently assigned the PALB gene to chromosome 18 by analysis of somatic cell hybrid panels. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2990465+6100724" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a human genomic probe in the study of mouse-human somatic cell hybrids and by in situ hybridization, <a href="#225" class="mim-tip-reference" title="Sparkes, R. S., Sasaki, H., Mohandas, T., Yoshioka, K., Klisak, I., Sakaki, Y., Heinzmann, C., Simon, M. I. <strong>Assignment of the prealbumin (PALB) gene (familial amyloidotic polyneuropathy) to human chromosome region 18q11.2-q12.1.</strong> Hum. Genet. 75: 151-154, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3028932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3028932</a>] [<a href="https://doi.org/10.1007/BF00591077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3028932">Sparkes et al. (1987)</a> assigned the human PALB gene to chromosome region 18q11.2-q12.1. <a href="#111" class="mim-tip-reference" title="Jinno, Y., Matsumoto, T., Kamei, T., Kondoh, T., Maeda, S., Araki, S., Shimada, K., Niikawa, N. <strong>Localization of the human prealbumin gene to 18p11.1-q12.3 by gene dose effect study of Southern blot hybridization.</strong> Jinrui Idengaku Zasshi 31: 243-248, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3560511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3560511</a>] [<a href="https://doi.org/10.1007/BF01870754" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3560511">Jinno et al. (1986)</a> performed Southern analyses in various chromosome 18 abnormalities and, by gene dosage effect, assigned the TTR gene to 18p11.1-q12.3, most likely to 18cen-q12.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3560511+3028932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using molecular probes in the analysis of an interspecific backcross between C57BL/6J and Mus spretus, <a href="#116" class="mim-tip-reference" title="Justice, M. J., Gilbert, D. J., Kinzler, K. W., Vogelstein, B., Buchberg, A. M., Ceci, J. D., Matsuda, Y., Chapman, V. M., Patriotis, C., Makris, A., Tsichlis, P. N., Jenkins, N. A., Copeland, N. G. <strong>A molecular genetic linkage map of mouse chromosome 18 reveals extensive linkage conservation with human chromosomes 5 and 18.</strong> Genomics 13: 1281-1288, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1354644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1354644</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90047-v" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1354644">Justice et al. (1992)</a> demonstrated that the prealbumin gene is located on mouse chromosome 18. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1354644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#51" class="mim-tip-reference" title="Eneqvist, T., Andersson, K., Olofsson, A., Lundgren, E., Sauer-Eriksson, A. E. <strong>The beta-slip: a novel concept in transthyretin amyloidosis.</strong> Molec. Cell 6: 1207-1218, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11106758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11106758</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)00117-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11106758">Eneqvist et al. (2000)</a> found that the structure of the highly amyloidogenic TTR triple mutant gly53 to ser/glu54 to asp/leu55 to ser determined at 2.3-angstrom resolution revealed a novel conformation, the beta slip. A 3-residue shift in beta strand D placed leu58 at the position normally occupied by leu55, now mutated to ser. The beta slip was best defined in 2 of the 4 monomers, where it made new protein-protein interactions to an area normally involved in complex formation with retinol-binding protein. This interaction created unique packing arrangements, where 2 protein helices combined to form a double helix in agreement with fiber diffraction and electron microscopy data. Based on these findings, a novel model for transthyretin amyloid formation was presented. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11106758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Substitutions at codon 109 of transthyretin (A109T, <a href="#0015">176300.0015</a>; A109V, <a href="#0038">176300.0038</a>) have been identified in individuals with dystransthyretinemic hyperthyroxinemia (DTTRH; <a href="/entry/145680">145680</a>), and lead to an increase in the affinity for thyroxine (<a href="#202" class="mim-tip-reference" title="Saraiva, M. J. M. <strong>Transthyretin mutations in hyperthyroxinemia and amyloid diseases.</strong> Hum. Mutat. 17: 493-503, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11385707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11385707</a>] [<a href="https://doi.org/10.1002/humu.1132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11385707">Saraiva, 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11385707" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Hereditary Systemic Amyloidosis 1</em></strong></p><p>
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Many distinct forms of amyloidosis (AMYLD1; <a href="/entry/105210">105210</a>) have been related to different point mutations in the 127-amino acid TTR. In most of these, inheritance is autosomal dominant; homozygosity has been reported in the val30-to-met (V30M; <a href="#0001">176300.0001</a>) and val122-to-ile (V122I; <a href="#0009">176300.0009</a>) mutations.</p><p><a href="#177" class="mim-tip-reference" title="Refetoff, S., Dwulet, F. E., Benson, M. D. <strong>Reduced affinity for thyroxine in two of three structural thyroxine-binding prealbumin variants associated with familial amyloidotic polyneuropathy.</strong> J. Clin. Endocr. Metab. 63: 1432-1437, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3097057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3097057</a>] [<a href="https://doi.org/10.1210/jcem-63-6-1432" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3097057">Refetoff et al. (1986)</a> studied T4 binding by 4 prealbumin variants associated with amyloid polyneuropathy. They found that the TBPAs from subjects with types 1 and 2 familial amyloid polyneuropathy (shown to have substitutions at amino acids 30 and 84, respectively) have a relatively low affinity for T4. The authors felt, however, that hypothyroidism in these patients is probably due to the fortuitous occurrence of Hashimoto thyroiditis and/or the partial destruction of the thyroid gland by amyloid deposits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3097057" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Benson, M. D. <strong>Inherited amyloidosis.</strong> J. Med. Genet. 28: 73-78, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1848299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1848299</a>] [<a href="https://doi.org/10.1136/jmg.28.2.73" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1848299">Benson (1991)</a> reviewed the hereditary amyloidoses and listed 10 TTR mutations associated with amyloidosis together with restriction enzymes which are useful for DNA diagnosis in 8 of the cases. In the other 2 cases, allele-specific PCR must be used. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1848299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#90" class="mim-tip-reference" title="Ii, S., Sommer, S. S. <strong>The high frequency of TTR M(30) in familial amyloidotic polyneuropathy is not due to a founder effect.</strong> Hum. Molec. Genet. 2: 1303-1305, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8401513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8401513</a>] [<a href="https://doi.org/10.1093/hmg/2.8.1303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8401513">Ii and Sommer (1993)</a> suggested that founder effect can be rejected as the cause of the high frequency of the val30-to-met mutation (V30M; <a href="#0001">176300.0001</a>) in familial amyloid polyneuropathy (FAP). In a sample of 11 unrelated North American patients, they found this mutation in 6. Since relatives were not available, they used the PCR-based method called double-PASA (<a href="#203" class="mim-tip-reference" title="Sarkar, G., Sommer, S. S. <strong>Haplotyping by double PCR amplification of specific alleles.</strong> BioTechniques 10: 436-440, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1831030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1831030</a>]" pmid="1831030">Sarkar and Sommer, 1991</a>) to determine the haplotypes. In the 6 patients with the V30M mutation, 4 different haplotypes were observed. <a href="#90" class="mim-tip-reference" title="Ii, S., Sommer, S. S. <strong>The high frequency of TTR M(30) in familial amyloidotic polyneuropathy is not due to a founder effect.</strong> Hum. Molec. Genet. 2: 1303-1305, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8401513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8401513</a>] [<a href="https://doi.org/10.1093/hmg/2.8.1303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8401513">Ii and Sommer (1993)</a> speculated on why a late-onset disorder such as this, which should interfere little with reproduction, should lack evidence of founder effect. They suggested that the mutation rate for V30M is probably the highest among the FAP TTR mutations because it is the only one that occurs in a CpG dinucleotide. <a href="#179" class="mim-tip-reference" title="Reilly, M. M., Adams, D., Davis, M. B., Said, G., Harding, A. E. <strong>Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (met 30 and tyr 77).</strong> J. Neurol. 242: 664-668, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8568528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8568528</a>] [<a href="https://doi.org/10.1007/BF00866917" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8568528">Reilly et al. (1995)</a> also found haplotype evidence for multiple founders in a sampling of European patients with familial amyloid polyneuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8401513+1831030+8568528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#201" class="mim-tip-reference" title="Saraiva, M. J. M. <strong>Transthyretin mutations in health and disease.</strong> Hum. Mutat. 5: 191-196, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7599630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7599630</a>] [<a href="https://doi.org/10.1002/humu.1380050302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7599630">Saraiva (1995)</a> tabulated more than 40 different mutations in the TTR gene associated with amyloid deposition. She pointed to the problem of correlating the clinical heterogeneity with the genetic heterogeneity. <a href="#201" class="mim-tip-reference" title="Saraiva, M. J. M. <strong>Transthyretin mutations in health and disease.</strong> Hum. Mutat. 5: 191-196, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7599630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7599630</a>] [<a href="https://doi.org/10.1002/humu.1380050302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7599630">Saraiva (1995)</a> observed that most of the mutations are neuropathic, but only some give rise to cardiomyopathy or to vitreous opacities. <a href="#202" class="mim-tip-reference" title="Saraiva, M. J. M. <strong>Transthyretin mutations in hyperthyroxinemia and amyloid diseases.</strong> Hum. Mutat. 17: 493-503, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11385707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11385707</a>] [<a href="https://doi.org/10.1002/humu.1132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11385707">Saraiva (2001)</a> stated that over 80 different disease-causing mutations in the TTR gene had been reported. Only a small proportion of TTR mutations are apparently nonamyloidogenic. Among these are mutations responsible for hyperthyroxinemia. Compound heterozygous individuals have been described; noteworthy is the clinically protected effect exerted by a nonpathogenic mutation over a pathogenic mutation, which in the usual heterozygous state would result in amyloid deposition. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7599630+11385707" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 13 patients with systemic amyloidosis in whom a diagnosis of the acquired monoclonal immunoglobulin light-chain type (AL; see <a href="/entry/254500">254500</a>) had been made on the basis of clinical and laboratory findings and by the absence of a family history, <a href="#129" class="mim-tip-reference" title="Lachmann, H. J., Booth, D. R., Booth, S. E., Bybee, A., Gilbertson, J. A., Gillmore, J. D., Pepys, M. B., Hawkins, P. N. <strong>Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.</strong> New Eng. J. Med. 346: 1786-1791, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12050338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12050338</a>] [<a href="https://doi.org/10.1056/NEJMoa013354" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12050338">Lachmann et al. (2002)</a> found heterozygosity for point mutations in the TTR gene (see, e.g., <a href="#0001">176300.0001</a>, <a href="#0004">176300.0004</a>, and <a href="#0009">176300.0009</a>); 3 of the mutations represented previously undescribed variants. All 13 of the patients presented with cardiac amyloidosis and variable degrees of autonomic and peripheral neuropathy. Scintigraphy with radioiodine-labeled serum amyloid P component (<a href="/entry/104770">104770</a>), a technique for quantitatively imaging amyloid deposits in vivo in cases of AL amyloidosis, revealed no amyloid deposits in the liver or bone in these cases; such deposits had not been noted in transthyretin-associated amyloidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12050338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#92" class="mim-tip-reference" title="Ikeda, S., Nakazato, M., Ando, Y., Sobue, G. <strong>Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity.</strong> Neurology 58: 1001-1007, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940682</a>] [<a href="https://doi.org/10.1212/wnl.58.7.1001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940682">Ikeda et al. (2002)</a> reviewed the diagnosis, epidemiology, clinical and genetic variability, and treatment options of familial amyloid polyneuropathy in Japan. The authors detailed the clinical findings associated with the common V30M mutation as well as the findings associated with other known mutations and concluded that there is wide variability in phenotype, even among those with the same genotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#69" class="mim-tip-reference" title="Hammarstrom, P., Wiseman, R. L., Powers, E. T., Kelly, J. W. <strong>Prevention of transthyretin amyloid disease by changing protein misfolding energetics.</strong> Science 299: 713-716, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12560553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12560553</a>] [<a href="https://doi.org/10.1126/science.1079589" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12560553">Hammarstrom et al. (2003)</a> described a series of transthyretin amyloidosis inhibitors that functioned by increasing the kinetic barrier associated with misfolding, preventing amyloidogenesis by stabilizing the native state. The trans-suppressor mutation thr119 to met (<a href="#0018">176300.0018</a>), which ameliorates familial amyloid disease, also functioned through kinetic stabilization, implying that this small-molecule strategy should be effective in treating amyloid diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12560553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#223" class="mim-tip-reference" title="Soares, M. L., Coelho, T., Sousa, A., Batalov, S., Conceicao, I., Sales-Luis, M. L., Ritchie, M. D., Williams, S. M., Nievergelt, C. M., Schork, N. J., Saraiva, M. J., Buxbaum, J. N. <strong>Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease.</strong> Hum. Molec. Genet. 14: 543-553, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15649951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15649951</a>] [<a href="https://doi.org/10.1093/hmg/ddi051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15649951">Soares et al. (2005)</a> analyzed alleles of genes involved in either TTR function or amyloid deposits, including APCS (<a href="/entry/104770">104770</a>) and RBP4 (<a href="/entry/180250">180250</a>), for possible association with age of disease onset and/or susceptibility in Portuguese FAP patients with the V30M mutation (<a href="#0001">176300.0001</a>) and unrelated controls. Estimates of genetic distance indicated that controls and the classic-onset group were furthest apart, whereas the late-onset group appeared to differ from both. The data also indicated that genetic interactions among the multiple loci evaluated, rather than single-locus effects, were more likely to determine differences in the age of disease onset. Multifactor dimensionality reduction indicated that the best genetic model for the classic-onset group versus controls involved the APCS gene, whereas for late-onset cases, 1 APCS variant (APCSv1) and 2 RBP variants (RBPv1 and RBPv2) were involved. <a href="#223" class="mim-tip-reference" title="Soares, M. L., Coelho, T., Sousa, A., Batalov, S., Conceicao, I., Sales-Luis, M. L., Ritchie, M. D., Williams, S. M., Nievergelt, C. M., Schork, N. J., Saraiva, M. J., Buxbaum, J. N. <strong>Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease.</strong> Hum. Molec. Genet. 14: 543-553, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15649951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15649951</a>] [<a href="https://doi.org/10.1093/hmg/ddi051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15649951">Soares et al. (2005)</a> concluded that although the V30M mutation was required for the disease in Portuguese patients, different genetic factors may govern the age of onset, as well as the occurrence of anticipation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15649951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The D18G (<a href="#0047">176300.0047</a>) and A25T (<a href="#0051">176300.0051</a>) variants of TTR are associated with the leptomeningeal form of amyloidosis (see <a href="/entry/105210">105210</a>), specifically targeting the central nervous system with minimal or absent visceral involvement. <a href="#210" class="mim-tip-reference" title="Sekijima, Y., Wiseman, R. L., Matteson, J., Hammarstrom, P., Miller, S. R., Sawkar, A. R., Balch, W. E., Kelly, J. W. <strong>The biological and chemical basis for tissue-selective amyloid disease.</strong> Cell 121: 73-85, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15820680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15820680</a>] [<a href="https://doi.org/10.1016/j.cell.2005.01.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15820680">Sekijima et al. (2005)</a> demonstrated that a choroid plexus cell line was more permissive in its ability to secrete the highly destabilized A25T TTR variant compared to BHK or MMH cells and that in BHK cells secretion of A25T and D18G was sensitive to T4 (metabolite) chaperoning. Secretion by choroid plexus cells may increase the extracellular concentration and rate of A25T TTR amyloidogenesis in the CNS. In contrast, murine hepatic cells secreted A25T TTR at significantly lower levels, perhaps due to lower levels of T4, resulting in lack of visceral involvement. The most highly destabilized TTR variants, such as D18G, were retained in the endoplasmic reticulum (ER) and likely targeted for ER-associated degradation (ERAD), leading to low secretion levels. More stable variants like L55P (<a href="/entry/105210#0022">105210.0022</a>) were not targeted for ERAD, and can be secreted at near-wildtype levels. <a href="#210" class="mim-tip-reference" title="Sekijima, Y., Wiseman, R. L., Matteson, J., Hammarstrom, P., Miller, S. R., Sawkar, A. R., Balch, W. E., Kelly, J. W. <strong>The biological and chemical basis for tissue-selective amyloid disease.</strong> Cell 121: 73-85, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15820680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15820680</a>] [<a href="https://doi.org/10.1016/j.cell.2005.01.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15820680">Sekijima et al. (2005)</a> suggested that tissue-specific differences determine which pathogenic variants are targeted for ERAD and which are secreted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15820680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Human evolution is characterized by a dramatic increase in brain size and complexity. To probe its genetic basis, <a href="#44" class="mim-tip-reference" title="Dorus, S., Vallender, E. J., Evans, P. D., Anderson, J. R., Gilbert, S. L., Mahowald, M., Wyckoff, G. J., Malcom, C. M., Lahn, B. T. <strong>Accelerated evolution of nervous system genes in the origin of Homo sapiens.</strong> Cell 119: 1027-1040, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15620360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15620360</a>] [<a href="https://doi.org/10.1016/j.cell.2004.11.040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15620360">Dorus et al. (2004)</a> examined the evolution of genes involved in diverse aspects of nervous system biology. These genes, including TTR, displayed significantly higher rates of protein evolution in primates than in rodents. This trend was most pronounced for the subset of genes implicated in nervous system development. Moreover, within primates, the acceleration of protein evolution was most prominent in the lineage leading from ancestral primates to humans. <a href="#44" class="mim-tip-reference" title="Dorus, S., Vallender, E. J., Evans, P. D., Anderson, J. R., Gilbert, S. L., Mahowald, M., Wyckoff, G. J., Malcom, C. M., Lahn, B. T. <strong>Accelerated evolution of nervous system genes in the origin of Homo sapiens.</strong> Cell 119: 1027-1040, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15620360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15620360</a>] [<a href="https://doi.org/10.1016/j.cell.2004.11.040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15620360">Dorus et al. (2004)</a> concluded that the phenotypic evolution of the human nervous system has a salient molecular correlate, i.e., accelerated evolution of the underlying genes, particularly those linked to nervous system development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15620360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The prealbumins, serum proteins which migrate faster than albumin in acidic starch gels, include alpha-1-antitrypsin (<a href="/entry/107400">107400</a>), thyroxine-binding prealbumin, and orosomucoid, an alpha-1-acid glycoprotein (<a href="/entry/138600">138600</a>). Polymorphism of prealbumin is known in the mouse and pig (reviewed by <a href="#134" class="mim-tip-reference" title="Lush, I. E. <strong>The Biochemical Genetics of Vertebrates Except Man.</strong> Philadelphia: W. B. Saunders (pub.) 1966."None>Lush, 1966</a>) and in monkeys (<a href="#174" class="mim-tip-reference" title="Rall, J. E. <strong>Personal Communication.</strong> Bethesda, Md. 10/1977."None>Rall, 1977</a>). Fagerhol and Braend (<a href="#53" class="mim-tip-reference" title="Fagerhol, M. K., Braend, M. <strong>Serum prealbumin: polymorphism in man.</strong> Science 149: 986-987, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5827347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5827347</a>] [<a href="https://doi.org/10.1126/science.149.3687.986" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5827347">1965</a>, <a href="#54" class="mim-tip-reference" title="Fagerhol, M. K., Braend, M. <strong>Classification of human serum prealbumin after starch gel electrophoresis.</strong> Acta Path. Microbiol. Scand. 68: 434-438, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5959848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5959848</a>] [<a href="https://doi.org/10.1111/apm.1966.68.3.434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5959848">1966</a>) demonstrated polymorphism of serum prealbumin by starch gel electrophoresis and presented family data supporting genetic control by 3 codominant alleles. This polymorphism was later shown by <a href="#55" class="mim-tip-reference" title="Fagerhol, M. K., Laurell, C. B. <strong>The polymorphism of 'prealbumins' and alpha(1)-antitrypsin in human sera.</strong> Clin. Chim. Acta 16: 199-203, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4166396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4166396</a>] [<a href="https://doi.org/10.1016/0009-8981(67)90181-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4166396">Fagerhol and Laurell (1967)</a> to be identical to alpha-1-antitrypsin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5827347+5959848+4166396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using isotopic in situ hybridization, <a href="#172" class="mim-tip-reference" title="Qiu, H., Shimada, K., Cheng, Z. <strong>Chromosomal localization of the mouse prealbumin gene (Ttr) by in situ hybridization.</strong> Cytogenet. Cell Genet. 61: 186-188, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1424807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1424807</a>] [<a href="https://doi.org/10.1159/000133405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1424807">Qiu et al. (1992)</a> mapped the Ttr gene to mouse chromosome 4. The mouse cDNA probe used was that of <a href="#247" class="mim-tip-reference" title="Wakasugi, S., Maeda, S., Shimada, K., Nakashima, H., Migita, S. <strong>Structural comparisons between mouse and human prealbumin.</strong> J. Biochem. 98: 1707-1714, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3005251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3005251</a>] [<a href="https://doi.org/10.1093/oxfordjournals.jbchem.a135442" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3005251">Wakasugi et al. (1985)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1424807+3005251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28933979 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28933979;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs28933979?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28933979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28933979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014359 OR RCV000159423 OR RCV000770555 OR RCV001173292 OR RCV002390106 OR RCV002476964 OR RCV004549361" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014359, RCV000159423, RCV000770555, RCV001173292, RCV002390106, RCV002476964, RCV004549361" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014359...</a>
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<p>Amyloid neuropathy resulting from a val30-to-met (V30M) mutation in transthyretin has been classified as familial amyloid polyneuropathy type I (FAP I; see AMYLD1, <a href="/entry/105210">105210</a>). This mutation has been identified in many kindreds in Portugal and Japan, and also in American kindreds of Swedish, English, and Greek origin. It has also been identified in Turkey, Majorca, Brazil, France, and England (<a href="#29" class="mim-tip-reference" title="Benson, M. D. <strong>Amyloidosis. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 5345-5378."None>Benson, 2001</a>). Both FAP I as a general clinical entity and FAP resulting from the V30M mutation have been referred to as hereditary amyloidosis Portuguese type, Portuguese-Swedish-Japanese type, or Andrade type.</p><p><strong><em>Portuguese Patients</em></strong></p><p>
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<a href="#11" class="mim-tip-reference" title="Andrade, C. <strong>A peculiar form of peripheral neuropathy: familial atypical generalised amyloidosis with special involvement of peripheral nerves.</strong> Brain 75: 408-427, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12978172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12978172</a>] [<a href="https://doi.org/10.1093/brain/75.3.408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12978172">Andrade (1952)</a> described kindreds with familial amyloidotic polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>) from northern Portugal. <a href="#193" class="mim-tip-reference" title="Saraiva, M. J. M., Birken, S., Costa, P. P., Goodman, D. S. <strong>Family studies of the genetic abnormality in transthyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy.</strong> Ann. N.Y. Acad. Sci. 435: 86-100, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6099706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6099706</a>] [<a href="https://doi.org/10.1111/j.1749-6632.1984.tb13742.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6099706">Saraiva et al. (1984)</a> demonstrated that the molecular basis of the disorder in these kindreds is a valine-to-methionine substitution at residue 30 of transthyretin (V30M). <a href="#202" class="mim-tip-reference" title="Saraiva, M. J. M. <strong>Transthyretin mutations in hyperthyroxinemia and amyloid diseases.</strong> Hum. Mutat. 17: 493-503, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11385707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11385707</a>] [<a href="https://doi.org/10.1002/humu.1132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11385707">Saraiva (2001)</a> reported that over 500 kindreds had been identified in Portugal, constituting the largest focus of FAP worldwide. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11385707+6099706+12978172" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the Andrade type of hereditary amyloid neuropathy, observed predominantly in persons from the northern coastal provinces of Portugal and in their Brazilian relatives, neuropathic manifestations begin and predominate in the legs, leading to the popular designation of 'foot disease,' or 'doenca dos pezinhos' in Portugal (<a href="#133" class="mim-tip-reference" title="Lourenco, R. V. <strong>Personal Communication.</strong> Chicago, Ill. 5/9/1980."None>Lourenco, 1980</a>). Onset is between age 20 and 30 years and death occurs 7 to 10 years later.</p><p><a href="#195" class="mim-tip-reference" title="Saraiva, M. J. M., Costa, P. P., Birken, S., Goodman, D. S. <strong>Presence of an abnormal transthyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy.</strong> Trans. Assoc. Am. Phys. 96: 261-270, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6208668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6208668</a>]" pmid="6208668">Saraiva et al. (1983)</a> found that plasma levels of TTR are reduced in patients with Portuguese amyloidosis, that levels of retinol-binding protein and vitamin A transport appear to be normal, that the abnormal TTR in the tissues of patients has a substitution of methionine for valine at position 30, and that the abnormal TTR is present in small amounts in the plasma of patients. A GUG-to-AUG change would account for the amino acid change. <a href="#232" class="mim-tip-reference" title="Tawara, S., Nakazato, M., Kangawa, K., Matsuo, H., Araki, S. <strong>Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type).</strong> Biochem. Biophys. Res. Commun. 116: 880-888, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6651852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6651852</a>] [<a href="https://doi.org/10.1016/s0006-291x(83)80224-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6651852">Tawara et al. (1983)</a> found the methionine-for-valine substitution at position 30 in Japanese cases and <a href="#48" class="mim-tip-reference" title="Dwulet, F. E., Benson, M. D. <strong>Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin.</strong> Proc. Nat. Acad. Sci. 81: 694-698, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6583672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6583672</a>] [<a href="https://doi.org/10.1073/pnas.81.3.694" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6583672">Dwulet and Benson (1984)</a> found it in a Swedish case (<a href="#15" class="mim-tip-reference" title="Benson, M. D., Cohen, A. S. <strong>Generalized amyloid in a family of Swedish origin: a study of 426 family members in 7 generations of a new kinship with neuropathy, nephropathy and central nervous system involvement.</strong> Ann. Intern. Med. 86: 419-424, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/192115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">192115</a>] [<a href="https://doi.org/10.7326/0003-4819-86-4-419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="192115">Benson and Cohen, 1977</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6208668+6651852+192115+6583672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#198" class="mim-tip-reference" title="Saraiva, M. J. M., Costa, P. P., Goodman, D. S. <strong>Genetic expression of a transthyretin mutation in typical and late-onset Portuguese families with familial amyloidotic polyneuropathy.</strong> Neurology 36: 1413-1417, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3762958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3762958</a>] [<a href="https://doi.org/10.1212/wnl.36.11.1413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3762958">Saraiva et al. (1986)</a> found that the same val-to-met substitution at position 30 of transthyretin was present in plasma in asymptomatic persons from a Portuguese family with unusually late onset of clinical manifestations. The factors responsible for the delay in onset were not known. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3762958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Swedish Patients</em></strong></p><p>
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A considerable number of cases of amyloid neuropathy were reported from northern Sweden (<a href="#7" class="mim-tip-reference" title="Andersson, R. <strong>Hereditary amyloidosis with polyneuropathy.</strong> Acta Med. Scand. 1: 85-94, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5507249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5507249</a>] [<a href="https://doi.org/10.1111/j.0954-6820.1970.tb08009.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5507249">Andersson, 1970</a>; <a href="#6" class="mim-tip-reference" title="Andersson, R., Hofer, P. A. <strong>Primary amyloidosis with polyneuropathy: some aspects of the histopathological diagnosis antemortem based on studies of biopsy specimens from 30 familial and non-familial cases.</strong> Acta Med. Scand. 196: 115-120, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4138132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4138132</a>]" pmid="4138132">Andersson and Hofer, 1974</a>). In a Swedish form, later proven by molecular methods to be identical to the Portuguese type, <a href="#22" class="mim-tip-reference" title="Benson, M. D. <strong>Characterization of an amyloid fibril protein in heredofamilial amyloidosis. (Abstract)</strong> Clin. Res. 28: 340A, 1980."None>Benson (1980)</a> found evidence of relationship of the amyloid to serum prealbumin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4138132+5507249" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#48" class="mim-tip-reference" title="Dwulet, F. E., Benson, M. D. <strong>Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin.</strong> Proc. Nat. Acad. Sci. 81: 694-698, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6583672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6583672</a>] [<a href="https://doi.org/10.1073/pnas.81.3.694" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6583672">Dwulet and Benson (1984)</a> found substitution of methionine for valine at position 30 in the plasma prealbumin and associated amyloid fibril subunit protein from a Swedish patient with familial amyloid polyneuropathy. The abnormal protein accounted for one-third of plasma prealbumin and two-thirds of the amyloid fibrils. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6583672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>It seems well established that the clinical picture differs in persons from different genetic backgrounds. For example, the methionine-30 mutation in a U.S. family of English descent invariably produces cardiomyopathy, whereas among the Swedes the same mutation is rarely accompanied by cardiomyopathy and instead shows the kidneys as the main target, with patients dying of renal failure. <a href="#81" class="mim-tip-reference" title="Holmgren, G., Holmberg, E., Lindstrom, A., Lindstrom, E., Nordenson, I., Sandgren, O., Steen, L., Svensson, B., Lundgren, E., von Gabain, A. <strong>Diagnosis of familial amyloidotic polyneuropathy in Sweden by RFLP analysis.</strong> Clin. Genet. 33: 176-180, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2896079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2896079</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1988.tb03434.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2896079">Holmgren et al. (1988)</a> found the same V30M mutation in TTR in 17 Swedish patients with FAP as seen in patients with FAP from Japan and Portugal and in FAP patients of Swedish extraction in the U.S. Curiously, however, the mean age of onset of FAP symptoms for the 17 Swedish patients was significantly later than for the patients from Japan, Portugal, and the U.S. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2896079" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The relatively high frequency of this form of amyloid polyneuropathy in Sweden is indicated by the study of <a href="#45" class="mim-tip-reference" title="Drugge, U., Andersson, R., Chizari, F., Danielsson, M., Holmgren, G., Sandgren, O., Sousa, A. <strong>Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.</strong> J. Med. Genet. 30: 388-392, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8100581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8100581</a>] [<a href="https://doi.org/10.1136/jmg.30.5.388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8100581">Drugge et al. (1993)</a>. Since the first Swedish patients were reported in 1968, more than 230 cases had been diagnosed. The study of <a href="#45" class="mim-tip-reference" title="Drugge, U., Andersson, R., Chizari, F., Danielsson, M., Holmgren, G., Sandgren, O., Sousa, A. <strong>Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.</strong> J. Med. Genet. 30: 388-392, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8100581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8100581</a>] [<a href="https://doi.org/10.1136/jmg.30.5.388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8100581">Drugge et al. (1993)</a> included 239 patients: 109 patients were linked to 5 large pedigrees and 80 patients belonged to 30 smaller pedigrees or nuclear families. In the remaining 50 cases, no genealogic links were found. Differences in mean age of onset were found both between pedigrees and within pedigrees. They found a tendency for earlier age of onset among patients with a carrier mother than among those with a carrier father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8100581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#78" class="mim-tip-reference" title="Holmgren, G., Costa, P. M. P., Andersson, C., Asplund, K., Steen, L., Beckman, L., Nylander, P.-O., Teixeira, A., Saraiva, M. J. M., Costa, P. P. <strong>Geographical distribution of TTR met-30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate.</strong> J. Med. Genet. 31: 351-354, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8064809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8064809</a>] [<a href="https://doi.org/10.1136/jmg.31.5.351" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8064809">Holmgren et al. (1994)</a> stated that more than 350 patients with clinical manifestations of FAP had been diagnosed in northern Sweden, most of them originating from the areas around Skelleftea and Pitea. The mean age of onset was 56 years, much later than in patients from Japan and Portugal. To estimate the frequency of the met30 mutation in the counties of Vasterbotten and Norrbotten, sera from 1,276 persons aged 24 to 65 years, randomly sampled from a health program, were screened with a monoclonal antibody. In an ELISA test using this antibody, a positive reaction was seen in 19 persons. DNA analysis confirmed the presence of the met30 mutation and showed that 18 were heterozygous and 1 homozygous for the mutation. The mean TTR met30 carrier frequency in the area was 1.5%, ranging from 0.0 to 8.3% in 23 subpopulations. <a href="#78" class="mim-tip-reference" title="Holmgren, G., Costa, P. M. P., Andersson, C., Asplund, K., Steen, L., Beckman, L., Nylander, P.-O., Teixeira, A., Saraiva, M. J. M., Costa, P. P. <strong>Geographical distribution of TTR met-30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate.</strong> J. Med. Genet. 31: 351-354, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8064809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8064809</a>] [<a href="https://doi.org/10.1136/jmg.31.5.351" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8064809">Holmgren et al. (1994)</a> referred to 6 previously reported Swedish homozygotes for this mutation as well as to Turkish, Japanese, and Portuguese homozygotes. The clinical picture in homozygotes appeared to be the same as in heterozygotes. In the Swedish study, the penetrance of the met30 mutation showed considerable variation between families, and the overall diagnostic (predicted) value was as low as approximately 2%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8064809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Japanese Patients</em></strong></p><p>
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<a href="#12" class="mim-tip-reference" title="Araki, S., Mawatari, S., Ohta, M., Nakajima, A., Kuroiwa, Y. <strong>Polyneuritic amyloidosis in a Japanese family.</strong> Arch. Neurol. 18: 593-602, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5652991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5652991</a>] [<a href="https://doi.org/10.1001/archneur.1968.00470360015001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5652991">Araki et al. (1968)</a> reported a kindred from southern Japan with many members affected. <a href="#121" class="mim-tip-reference" title="Kito, S., Fujimori, N., Yamamoto, M., Itoga, E., Toyoizum, Y. <strong>A new focus of familial amyloid polyneuropathy.</strong> Nihon Rinsho 31: 2326-2338, 1973. Note: Article in Japanese.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4354899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4354899</a>]" pmid="4354899">Kito et al. (1973)</a> described the second largest concentration of this disorder at Ogawa Village in central Japan, a region notorious as a center of so-called leprosy for several hundred years. The location in Japan makes it unlikely that this was the Portuguese gene; some of the families of amyloid neuropathy seen elsewhere may, however, have a gene introduced by Portuguese. Although the cases of <a href="#122" class="mim-tip-reference" title="Kito, S., Itoga, E., Kamiya, K., Kishida, T., Yamamura, Y. <strong>Studies on familial amyloid polyneuropathy on Ogawa village Japan.</strong> Europ. Neurol. 19: 141-151, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7389759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7389759</a>] [<a href="https://doi.org/10.1159/000115139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7389759">Kito et al. (1980)</a> resembled the Andrade type clinically, immunoglobulin peculiarities suggested a difference. <a href="#122" class="mim-tip-reference" title="Kito, S., Itoga, E., Kamiya, K., Kishida, T., Yamamura, Y. <strong>Studies on familial amyloid polyneuropathy on Ogawa village Japan.</strong> Europ. Neurol. 19: 141-151, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7389759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7389759</a>] [<a href="https://doi.org/10.1159/000115139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7389759">Kito et al. (1980)</a> reported improvement with dimethyl sulfoxide (DMSO) treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4354899+7389759+5652991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#267" class="mim-tip-reference" title="Yoshioka, K., Sasaki, H., Yoshioka, N., Furuya, H., Harada, T., Kito, S., Sakaki, Y. <strong>Structure of the mutant prealbumin gene responsible for familial amyloidotic polyneuropathy.</strong> Molec. Biol. Med. 3: 319-328, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3022107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3022107</a>]" pmid="3022107">Yoshioka et al. (1986)</a> studied 25 FAP patients from 2 areas of Japan; 20 were from Ogawa village and 5 from Arao City. All of them were found to have the valine-to-methionine change at position 30. In addition, in 1 patient, <a href="#267" class="mim-tip-reference" title="Yoshioka, K., Sasaki, H., Yoshioka, N., Furuya, H., Harada, T., Kito, S., Sakaki, Y. <strong>Structure of the mutant prealbumin gene responsible for familial amyloidotic polyneuropathy.</strong> Molec. Biol. Med. 3: 319-328, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3022107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3022107</a>]" pmid="3022107">Yoshioka et al. (1986)</a> determined the complete nucleotide sequence of the prealbumin gene. In comparison with the normal, the patient's gene was found to be carrying 7 basepair substitutions. The substitution responsible for the val-to-met change was found in exon 2, as expected, and the others were polymorphic changes in introns. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3022107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#164" class="mim-tip-reference" title="Ochiai, J., Tobimatsu, S., Kobayashi, T., Kitamoto, T., Kitaguchi, T., Furuya, H., Goto, I., Kuroiwa, Y. <strong>Nonfamilial prealbumin-type amyloid polyneuropathy.</strong> Arch. Neurol. 43: 1294-1295, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3022697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3022697</a>] [<a href="https://doi.org/10.1001/archneur.1986.00520120070021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3022697">Ochiai et al. (1986)</a> described a sporadic case of amyloid polyneuropathy in which the abnormal serum prealbumin typical of the Japanese form of FAP was not found in the serum and the characteristic DNA change was not found. Although it was suggested by the authors that this was a systemic form of senile amyloidosis, it seems more likely that this was a new mutation for a different type of prealbumin change. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3022697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#61" class="mim-tip-reference" title="Furuya, H., Yoshioka, K., Sasaki, H., Sakaki, Y., Nakazato, M., Matsuo, H., Nakadai, A., Ikeda, S., Yanagisawa, N. <strong>Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs.</strong> J. Clin. Invest. 80: 1706-1711, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3479441/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3479441</a>] [<a href="https://doi.org/10.1172/JCI113261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3479441">Furuya et al. (1987)</a> studied a Japanese family in which patients with amyloid polyneuropathy also showed cerebellar ataxia and pyramidal tract signs. The authors found a substitution of methionine for valine at position 30 of TTR, the same mutation as that in the Andrade variety. A submicroscopic deletion with creation of a 'contiguous gene syndrome' was suggested as a possibility to explain the central nervous system (CNS) dysfunction, but close linkage of another mutation giving rise to spinocerebellar ataxia was considered a more likely explanation. <a href="#93" class="mim-tip-reference" title="Ikeda, S., Yanagisawa, N., Hanyu, N., Furihata, K., Kobayashi, T. <strong>Coexistence of type I familial amyloid polyneuropathy and spinocerebellar ataxia type 1: clinical and genetic studies of a Japanese family.</strong> J. Neurol. Neurosurg. Psychiat. 60: 586-588, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8778271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8778271</a>] [<a href="https://doi.org/10.1136/jnnp.60.5.586-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8778271">Ikeda et al. (1996)</a> detected expansion of a CAG repeat in the spinocerebellar ataxia-1 gene (ATXN1; <a href="/entry/601556">601556</a>) in members with CNS dysfunction, some of whom also had a TTR mutation, demonstrating coexistence of FAP and SCA1 in this family. <a href="#165" class="mim-tip-reference" title="Oide, T., Arima, K., Yamazaki, M., Hanyu, N., Ikeda, S. <strong>Coexistence of familial transthyretin amyloidosis ATTR val30met and spinocerebellar ataxia type 1 in a Japanese family - a follow-up autopsy report.</strong> Amyloid 11: 191-199, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15523922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15523922</a>] [<a href="https://doi.org/10.1080/13506120400000715" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15523922">Oide et al. (2004)</a> confirmed at the pathologic level that the disorder in this Japanese family, also known as Iiyama-type FAP, was caused by the incidental coexistence of 2 autosomal dominantly inherited neurologic disorders, amyloid polyneuropathy and spinocerebellar ataxia-1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15523922+8778271+3479441" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#95" class="mim-tip-reference" title="Imaizumi, Y. <strong>Mortality rate of amyloidosis in Japan: secular trends and geographical variations.</strong> Am. J. Med. Genet. 34: 562-568, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2624269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2624269</a>] [<a href="https://doi.org/10.1002/ajmg.1320340422" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2624269">Imaizumi (1989)</a> pointed out that survival in this disorder in Japan appeared to have increased appreciably, with death occurring at a later age. He granted the possibility that improved recognition of cases may have been responsible. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2624269" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 6 Japanese families with the val-to-met mutation, <a href="#266" class="mim-tip-reference" title="Yoshioka, K., Furuya, H., Sasaki, H., Saraiva, M. J. M., Costa, P. P., Sakaki, Y. <strong>Haplotype analysis of familial amyloidotic polyneuropathy: evidence for multiple origins of the val-to-met mutation most common to the disease.</strong> Hum. Genet. 82: 9-13, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2714785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2714785</a>] [<a href="https://doi.org/10.1007/BF00288262" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2714785">Yoshioka et al. (1989)</a> identified 3 distinct haplotypes. Furthermore, they found that the val-to-met mutation can be explained by a C-to-T transition at a CpG dinucleotide mutation hotspot. This approach permitted them to examine the question of whether the mutation in Japan was introduced by Portuguese. They concluded that it was more likely that the familial amyloid polyneuropathy in Japanese families arose as an independent mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2714785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#139" class="mim-tip-reference" title="Misu, K., Hattori, N., Nagamatsu, M., Ikeda, S., Ando, Y., Nakazato, M., Takei, Y., Hanyu, N., Usui, Y., Tanaka, F., Harada, T., Inukai, A., Hashizume, Y., Sobue, G. <strong>Late-onset familial amyloid polyneuropathy type I (transthyretin met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan: clinicopathological and genetic features.</strong> Brain 122: 1951-1962, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10506096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10506096</a>] [<a href="https://doi.org/10.1093/brain/122.10.1951" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10506096">Misu et al. (1999)</a> analyzed the clinicopathologic and genetic features of late-onset FAP TTR met30 patients in 35 families in Japan, particularly those unrelated to the endemic areas of Japan, and compared them with the cases of early-onset FAP TTR met30 patients in endemic areas. Onset was after 50 years of age in most with paresthesias in the legs. Autonomic symptoms were generally mild and did not seriously affect daily activities. The male-to-female ratio was very high (10.7:1). Asymptomatic carriers, predominantly female, were detected relatively late in life. A family history was evident in only 11 of 35 families, and other patients were apparently sporadic. The rate of penetrance was very low. Symptomatic sibs of familial cases showed a late age of onset, male preponderance, and clinical features similar to those of the probands. The geographic distribution of these late-onset, FAP TTR met30 cases was scattered throughout Japan. In 3 autopsy cases and 20 sural nerve biopsy specimens, neurons in sympathetic and sensory ganglia were relatively preserved. Amyloid deposition was seen in the peripheral nervous system, particularly in the sympathetic ganglia, dorsal root ganglia, and proximal nerve trunks such as sciatic nerve. These abnormalities were milder than those seen in typical early-onset FAP TTR met30, as observed in 2 endemic foci of this disease in Japan: Arao City in Kumamoto Prefecture and Ogawa Village in Nagano Prefecture. While axonal degeneration was prominent in myelinated fibers, resulting in severe fiber loss, unmyelinated fibers were relatively preserved. Possible explanations for the differences were explored. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10506096" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#265" class="mim-tip-reference" title="Yoshioka, A., Yamaya, Y., Saiki, S., Hirose, G., Shimazaki, K., Nakamura, M., Ando, Y. <strong>A case of familial amyloid polyneuropathy homozygous for the transthyretin val30met gene with motor-dominant sensorimotor polyneuropathy and unusual sural nerve pathological findings.</strong> Arch. Neurol. 58: 1914-1918, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709003</a>] [<a href="https://doi.org/10.1001/archneur.58.11.1914" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709003">Yoshioka et al. (2001)</a> found homozygosity for the val30-to-met mutation in a 56-year-old Japanese man who had a motor-dominant sensorimotor polyneuropathy and unusual sural nerve pathologic findings. He lived in Nakajima, Ishikawa Prefecture, which is believed to be a nonendemic area for type I familial amyloidotic polyneuropathy. In addition to motor-dominant sensorimotor polyneuropathy, he had vitreous amyloidosis, erectile dysfunction, and urinary incontinence; however, he had neither orthostatic hypotension nor indolent diarrhea. Five members of his family were found to be heterozygous for the val30-to-met mutation but there was no family history of a similar neurologic disorder. The sural nerve biopsy showed focal edema and an amyloid deposit in the subperineural tissue, associated with moderate loss of myelinated and unmyelinated fibers. In the patient reported by <a href="#265" class="mim-tip-reference" title="Yoshioka, A., Yamaya, Y., Saiki, S., Hirose, G., Shimazaki, K., Nakamura, M., Ando, Y. <strong>A case of familial amyloid polyneuropathy homozygous for the transthyretin val30met gene with motor-dominant sensorimotor polyneuropathy and unusual sural nerve pathological findings.</strong> Arch. Neurol. 58: 1914-1918, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709003</a>] [<a href="https://doi.org/10.1001/archneur.58.11.1914" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709003">Yoshioka et al. (2001)</a>, the first clinical symptom was vitreous amyloidosis, observed when he was 45 years old. This age of onset was younger than the average reported by <a href="#264" class="mim-tip-reference" title="Yoshinaga, T., Nakazato, M., Ikeda, S., Ohnishi, A. <strong>Three siblings homozygous for the transthyretin-met(30) gene in familial amyloidotic polyneuropathy: evaluation of their clinical pictures with reference to those of 10 other cases reported.</strong> Clin. Neurol. 34: 99-105, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8194279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8194279</a>]" pmid="8194279">Yoshinaga et al. (1994)</a> in 3 sibs homozygous for this mutation in whom the mean age at onset was 57.3 years. The patient had distally predominant muscle atrophy and marked fasciculation. In general, patients homozygous for the val30-to-met mutation do not appear to suffer from more severe disease (<a href="#77" class="mim-tip-reference" title="Holmgren, G., Bergstrom, S., Drugge, U., Lundgren, E., Nording-Sikstrom, C., Sandgren, O., Steen, L. <strong>Homozygosity for the transthyretin-met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences.</strong> Clin. Genet. 41: 39-41, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1353008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1353008</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03627.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1353008">Holmgren et al., 1992</a>), and asymptomatic homozygous val30-to-met gene carriers have been described (<a href="#91" class="mim-tip-reference" title="Ikeda, S., Nakano, T., Yanagisawa, N., Nakazato, M., Tsukagoshi, H. <strong>Asymptomatic homozygous gene carrier in a family with type I familial amyloid polyneuropathy.</strong> Europ. Neurol. 32: 308-313, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1490495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1490495</a>] [<a href="https://doi.org/10.1159/000116850" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1490495">Ikeda et al., 1992</a>). Variability with this and other TTR mutations may be due to the fact that they merely set the stage for amyloid fibril formation. The factors interplay to determine the final consequence of the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8194279+11709003+1353008+1490495" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#127" class="mim-tip-reference" title="Koike, H., Misu, K., Ikeda, S., Ando, Y., Nakazato, M., Ando, E., Yamamoto, M., Hattori, N., Sobue, G., Study Group for Hereditary Neuropathy in Japan. <strong>Type I (transthyretin met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form.</strong> Arch. Neurol. 59: 1771-1776, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12433265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12433265</a>] [<a href="https://doi.org/10.1001/archneur.59.11.1771" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12433265">Koike et al. (2002)</a> presented 82 Japanese families with early-onset FAP TTR met30 and 59 families with late onset. In families with late onset, neuropathy showed male predominance, low penetrance, little relationship to endemic foci, sensorimotor symptoms beginning distally in the lower extremities with disturbance of both superficial and deep sensation, and relatively mild autonomic symptoms. Families with early onset showed higher penetrance, concentration in 2 endemic foci, predominant loss of superficial sensation, severe autonomic dysfunction, and atrioventricular nodal block requiring pacemaker implantation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12433265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Other Ethnic Groups</em></strong></p><p>
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<a href="#198" class="mim-tip-reference" title="Saraiva, M. J. M., Costa, P. P., Goodman, D. S. <strong>Genetic expression of a transthyretin mutation in typical and late-onset Portuguese families with familial amyloidotic polyneuropathy.</strong> Neurology 36: 1413-1417, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3762958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3762958</a>] [<a href="https://doi.org/10.1212/wnl.36.11.1413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3762958">Saraiva et al. (1986)</a> found the met30 mutation in a Greek family with FAP; thus, it has been identified in Portuguese, Japanese, Swedish and Greek persons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3762958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#194" class="mim-tip-reference" title="Saraiva, M. J. M., Costa, P. P., Almeida, M. R., Banzhoff, A., Altland, K., Ferlini, A., Rubboli, G., Plasmati, R., Tassinari, C. A., Romeo, G., Salvi, F. <strong>Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin.</strong> Hum. Genet. 80: 341-343, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2848756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2848756</a>] [<a href="https://doi.org/10.1007/BF00273648" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2848756">Saraiva et al. (1988)</a> showed that the change in TTR in 2 Italian kindreds with amyloid polyneuropathy was not a substitution of methionine at position 30. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2848756" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study of 13 European families, <a href="#82" class="mim-tip-reference" title="Holt, I. J., Harding, A. E., Middleton, L., Chrysostomou, G., Said, G., King, R. H. M., Thomas, P. K. <strong>Molecular genetics of amyloid neuropathy in Europe.</strong> Lancet 333: 524-526, 1989. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2564060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2564060</a>] [<a href="https://doi.org/10.1016/s0140-6736(89)90068-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2564060">Holt et al. (1989)</a> found that all 8 Cypriot families with familial amyloid polyneuropathy had the val30-to-met mutation as did 1 Greek family and 1 French family. Another French family and 1 British and 1 Italian family did not show the met30 mutation. Patients from 7 of the 10 kindreds with the met30 mutation were not known to have genetic disease before the study, which demonstrated the mutation in 16 of 43 clinically unaffected relatives; 2 of these were over 50 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2564060" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Diagnosis</em></strong></p><p>
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Studying Japanese cases of the val30-to-met mutation that had been found in Portuguese cases, <a href="#204" class="mim-tip-reference" title="Sasaki, H., Sakaki, Y., Matsuo, H., Goto, I., Kuroiwa, Y., Sahashi, I., Takahashi, A., Shinoda, T., Isobe, T., Takagi, Y. <strong>Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques.</strong> Biochem. Biophys. Res. Commun. 125: 636-642, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6549130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6549130</a>] [<a href="https://doi.org/10.1016/0006-291x(84)90586-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6549130">Sasaki et al. (1984)</a> demonstrated that direct gene diagnosis is possible. The nucleotide substitution results in new restriction sites when the restriction enzymes BalI and NsiI are used. <a href="#205" class="mim-tip-reference" title="Sasaki, H., Sakaki, Y., Takagi, Y., Sahashi, K., Takahashi, A., Isobe, T., Shinoda, T., Matsuo, H., Goto, I., Kuroiwa, Y. <strong>Presymptomatic diagnosis of heterozygosity for familial amyloidotic polyneuropathy by recombinant DNA techniques. (Letter)</strong> Lancet 325: 100 only, 1985. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2856994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2856994</a>] [<a href="https://doi.org/10.1016/s0140-6736(85)91985-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2856994">Sasaki et al. (1985)</a> described presymptomatic diagnosis of heterozygosity for familial amyloidotic polyneuropathy by recombinant DNA techniques. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2856994+6549130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#151" class="mim-tip-reference" title="Nakazato, M., Kangawa, K., Minamino, N., Tawara, S., Matsuo, H., Araki, S. <strong>Radioimmunoassay for detecting abnormal prealbumin in the serum for diagnosis of familial amyloidotic polyneuropathy (Japanese type).</strong> Biochem. Biophys. Res. Commun. 122: 719-725, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6087811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6087811</a>] [<a href="https://doi.org/10.1016/s0006-291x(84)80093-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6087811">Nakazato et al. (1984)</a> developed a radioimmunoassay based on a nonapeptide (positions 22-30) of the prealbumin variant. Five-microliter serum was treated with cyanogen bromide followed by trypsin before RIA. They found the variant and normal prealbumins to be present in a ratio of 1:1 in 8 biopsy-proven cases. High levels of variant were present regardless of duration of disease. Affected persons could be distinguished from unaffected relatives in the preclinical period. In Japanese cases of 30 valine-to-methionine amyloidosis, <a href="#154" class="mim-tip-reference" title="Nakazato, M., Kurihara, T., Kangawa, K., Matsuo, H. <strong>Childhood detection of familial amyloidotic polyneuropathy. (Letter)</strong> Lancet 325: 99 only, 1985. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2857043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2857043</a>] [<a href="https://doi.org/10.1016/s0140-6736(85)91984-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2857043">Nakazato et al. (1985)</a> could diagnose the disorder in asymptomatic children by an immunologic method specific for the variant prealbumin. With a radioimmunoassay for the variant TTR (with methionine substituted for valine-30), <a href="#155" class="mim-tip-reference" title="Nakazato, M., Kurihara, T., Matsukura, S., Kangawa, K., Matsuo, H. <strong>Diagnostic radioimmunoassay for familial amyloidotic polyneuropathy before clinical onset.</strong> J. Clin. Invest. 77: 1699-1703, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3457802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3457802</a>] [<a href="https://doi.org/10.1172/JCI112489" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3457802">Nakazato et al. (1986)</a> demonstrated the presence of the gene in 9 symptom-free children of affected persons and its absence in 15 other children. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2857043+3457802+6087811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Benson, M. D., Dwulet, F. E. <strong>Identification of a new amino acid substitution in plasma prealbumin associated with hereditary amyloidosis. (Abstract)</strong> Clin. Res. 33: 590a, 1985."None>Benson and Dwulet (1985)</a> described a method for identifying affected persons with the methionine-30 defect in the preclinical stages.</p><p><a href="#257" class="mim-tip-reference" title="Whitehead, A. S., Skinner, M., Bruns, G. A. P., Costello, W., Edge, M. D., Cohen, A. S., Sipe, J. D. <strong>Cloning of human prealbumin complementary DNA: localization of the gene to chromosome 18 and detection of a variant prealbumin allele in a family with familial amyloid polyneuropathy.</strong> Molec. Biol. Med. 2: 411-423, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6100724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6100724</a>]" pmid="6100724">Whitehead et al. (1984)</a> found that the val30-to-met mutation creates a unique NsiI restriction site in the prealbumin gene of these patients. <a href="#197" class="mim-tip-reference" title="Saraiva, M. J. M., Costa, P. P., Goodman, D. S. <strong>Biochemical marker in familial amyloidotic polyneuropathy, Portuguese type: family studies on the transthyretin (prealbumin)-methionine-30 variant.</strong> J. Clin. Invest. 76: 2171-2177, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3908483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3908483</a>] [<a href="https://doi.org/10.1172/JCI112224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3908483">Saraiva et al. (1985)</a> documented the predictive value of finding the met30 mutation in the plasma. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6100724+3908483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 cases of familial amyloid polyneuropathy from different families and apparently of non-Portuguese ancestry, living in upstate New York, <a href="#124" class="mim-tip-reference" title="Koeppen, A. H., Mitzen, E. J., Hans, M. B., Peng, S.-K., Bailey, R. O. <strong>Familial amyloid polyneuropathy.</strong> Muscle Nerve 8: 733-749, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4079954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4079954</a>] [<a href="https://doi.org/10.1002/mus.880080902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4079954">Koeppen et al. (1985)</a> found immunologic indications that the amyloid fibrils were of transthyretin origin. Peptide fragments of fibronectin were also detected in the fibrils but no amyloid P protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4079954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#135" class="mim-tip-reference" title="Maeda, S., Mita, S., Araki, S., Shimada, K. <strong>Structure and expression of the mutant prealbumin gene associated with familial amyloidotic polyneuropathy.</strong> Molec. Biol. Med. 3: 329-338, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3022108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3022108</a>]" pmid="3022108">Maeda et al. (1986)</a> found that the 2 types of mRNA, mutant and wildtype, are approximately equal in the liver of a heterozygote. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3022108" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using PCR-amplified DNA, <a href="#1" class="mim-tip-reference" title="Almeida, M. R., Alves, I. L., Sakaki, Y., Costa, P. P., Saraiva, M. J. M. <strong>Prenatal diagnosis of familial amyloidotic polyneuropathy: evidence for an early expression of the associated transthyretin methionine 30.</strong> Hum. Genet. 85: 623-626, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1977686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1977686</a>] [<a href="https://doi.org/10.1007/BF00193586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1977686">Almeida et al. (1990)</a> performed prenatal diagnosis on 2 at-risk fetuses. The met30 mutation was detected in the amniotic fluid of a DNA-positive fetus whose father was a carrier. <a href="#141" class="mim-tip-reference" title="Morris, M., Nichols, W., Benson, M. <strong>Prenatal diagnosis of hereditary amyloidosis in a Portuguese family.</strong> Am. J. Med. Genet. 39: 123-124, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1867256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1867256</a>] [<a href="https://doi.org/10.1002/ajmg.1320390128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1867256">Morris et al. (1991)</a> reported diagnosis of the val30-to-met mutation in a fetus on the basis of DNA studies of chorion villus samples; the parents chose to continue the pregnancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1867256+1977686" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Homozygosity</em></strong></p><p>
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<a href="#79" class="mim-tip-reference" title="Holmgren, G., Haettner, E., Nordenson, I., Sandgren, O., Steen, L., Lundgren, E. <strong>Homozygosity for the transthyretin-met(30)-gene in two Swedish sibs with familial amyloidotic polyneuropathy.</strong> Clin. Genet. 34: 333-338, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3229002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3229002</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1988.tb02887.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3229002">Holmgren et al. (1988)</a> presented molecular evidence for homozygosity for the met30 mutation of TTR in 2 Swedish sibs. The proband, a 56-year-old man, had typical manifestations; his older sister likewise appeared to be homozygous but had no evidence of FAP and no demonstrable amyloid deposits on skin biopsy. In 2 members of a Turkish family with FAP, <a href="#218" class="mim-tip-reference" title="Skare, J., Yazici, H., Erken, E., Dede, H., Cohen, A., Milunsky, A., Skinner, M. <strong>Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy.</strong> Hum. Genet. 86: 89-90, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2174830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2174830</a>] [<a href="https://doi.org/10.1007/BF00205182" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2174830">Skare et al. (1990)</a> found homozygosity for the val30-to-met mutation. The parents of these 2 were not consanguineous and there was no history of abnormality in the ancestors. Both sons of 1 of the men had 1 normal TTR gene and 1 met30 TTR gene. The 2 affected brothers had onset in their early fifties. <a href="#218" class="mim-tip-reference" title="Skare, J., Yazici, H., Erken, E., Dede, H., Cohen, A., Milunsky, A., Skinner, M. <strong>Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy.</strong> Hum. Genet. 86: 89-90, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2174830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2174830</a>] [<a href="https://doi.org/10.1007/BF00205182" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2174830">Skare et al. (1990)</a> cited observations in Sweden where about 3% of the population in 1 region are met30 heterozygotes and some of these heterozygotes have been demonstrated to live to age 80 without developing symptoms; 15 of 35 Swedish FAP patients had no family history of FAP. <a href="#77" class="mim-tip-reference" title="Holmgren, G., Bergstrom, S., Drugge, U., Lundgren, E., Nording-Sikstrom, C., Sandgren, O., Steen, L. <strong>Homozygosity for the transthyretin-met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences.</strong> Clin. Genet. 41: 39-41, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1353008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1353008</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03627.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1353008">Holmgren et al. (1992)</a> presented clinical data on 7 homozygotes, including 3 new cases. They were 59 to 74 years of age, and onset of symptoms had been at 52 to 65 years of age. Two of them were sibs, one of whom was still healthy at the age of 64 years. Three of the patients had no relatives with FAP. The progress of symptoms was the same as that seen among patients heterozygous for the val30-to-met mutation. Thus, like Huntington disease (<a href="/entry/143100">143100</a>), this disorder may be a complete dominant. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3229002+1353008+2174830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 15-year follow-up of 9 Swedish FAP patients who were homozygous for the V30M mutation, <a href="#80" class="mim-tip-reference" title="Holmgren, G., Hellman, U., Lundgren, H.-E., Sandgren, O., Suhr, O. B. <strong>Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome. (Letter)</strong> J. Med. Genet. 42: 953-956, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15930086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15930086</a>] [<a href="https://doi.org/10.1136/jmg.2005.033720" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15930086">Holmgren et al. (2005)</a> found that all developed vitreous amyloidosis, which was the presenting feature in 4 patients. In 2 patients, vitreous amyloidosis was the only FAP manifestation. Although the mean age at onset was similar to that of 35 heterozygous V30M patients (approximately 55 years), the homozygous patients had a longer survival (17 and 12 years, respectively). <a href="#80" class="mim-tip-reference" title="Holmgren, G., Hellman, U., Lundgren, H.-E., Sandgren, O., Suhr, O. B. <strong>Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome. (Letter)</strong> J. Med. Genet. 42: 953-956, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15930086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15930086</a>] [<a href="https://doi.org/10.1136/jmg.2005.033720" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15930086">Holmgren et al. (2005)</a> concluded that homozygosity for the V30M mutation does not implicate a more severe phenotype for Swedish FAP patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15930086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Origin of Mutation</em></strong></p><p>
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By analyzing the decay of haplotype sharing among 60 patients with the V30M mutation from Portugal, Sweden, and Brazil, <a href="#269" class="mim-tip-reference" title="Zaros, C., Genin, E., Hellman, U., Saporta, M. A., Languille, L., Wadington-Cruz, M., Suhr, O., Misrahi, M., Plante-Bordeneuve, V. <strong>On the origin of the transthyretin val30met familial amyloid polyneuropathy.</strong> Ann. Hum. Genet. 72: 478-484, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18460047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18460047</a>] [<a href="https://doi.org/10.1111/j.1469-1809.2008.00439.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18460047">Zaros et al. (2008)</a> estimated the most recent common ancestor in Portuguese and Brazilian patients to have lived 750 and 650 years ago, respectively. The most recent common ancestor estimated for Swedish patients was 375 years ago. The findings supported the Portuguese origin of the mutation among Brazilians and confirmed the hypothesis that the mutation arose independently in Sweden. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18460047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Manifestations</em></strong></p><p>
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<a href="#46" class="mim-tip-reference" title="Ducla-Soares, J., Alves, M. M., Carvalho, M., Povoa, P., Conceicao, I., Sales Luis, M. L. <strong>Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type.</strong> Acta Neurol. Scand. 90: 266-269, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7839813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7839813</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1994.tb02719.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7839813">Ducla-Soares et al. (1994)</a> studied 47 individuals with amyloid polyneuropathy of the Portuguese type carrying the val30-to-met mutation in TTR and found that autonomic dysfunction was the first manifestation in a significant proportion of patients, frequently preceding standard clinical neurologic or electroneurodiagnostic abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7839813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with leptomeningeal amyloidosis characterized by fluctuating mental status, myelopathy, and enhanced, thickened meninges on MRI, <a href="#75" class="mim-tip-reference" title="Herrick, M. K., DeBruyne, K., Horoupian, D. S., Skare, J., Vanefsky, M. A., Ong, T. <strong>Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene.</strong> Neurology 47: 988-992, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8857732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8857732</a>] [<a href="https://doi.org/10.1212/wnl.47.4.988" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8857732">Herrick et al. (1996)</a> identified the V30M mutation. The authors noted the variable clinical manifestations of patients with this mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8857732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Ando, E., Ando, Y., Okamura, R., Uchino, M., Ando, M., Negi, A. <strong>Ocular manifestations of familial amyloidotic polyneuropathy type I: long term follow up.</strong> Brit. J. Ophthal. 81: 295-298, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215058</a>] [<a href="https://doi.org/10.1136/bjo.81.4.295" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215058">Ando et al. (1997)</a> performed ocular examinations in 37 FAP type I patients (with the met30 mutation) from once to 12 times over a period of 1 to almost 13 years. On initial examination, abnormal conjunctival vessels were observed in 75.5%, pupillary abnormalities in 43.2%, keratoconjunctivitis sicca in 40.5%, glaucoma in 5.4%, and vitreous opacity in 5.4%. All ocular manifestations increased with the progression of FAP, and the incidence of abnormal conjunctival vessels reached 100% during follow-up. The abnormal conjunctival vessels were detected by slit-lamp biomicroscopic examination and could be helpful in the diagnosis of FAP (<a href="#8" class="mim-tip-reference" title="Ando, E., Ando, Y., Maruoka, S., Sakai, Y., Watanabe, S., Yamashita, R., Okamura, R., Araki, S. <strong>Ocular microangiopathy in familial amyloidotic polyneuropathy, type I.</strong> Graefes Arch. Clin. Exp. Ophthal. 230: 1-5, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1547960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1547960</a>] [<a href="https://doi.org/10.1007/BF00166754" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1547960">Ando et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1547960+9215058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 62-year-old patient with cardiac and renal amyloidosis, whose predominant clinical feature was neuropathy, <a href="#129" class="mim-tip-reference" title="Lachmann, H. J., Booth, D. R., Booth, S. E., Bybee, A., Gilbertson, J. A., Gillmore, J. D., Pepys, M. B., Hawkins, P. N. <strong>Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.</strong> New Eng. J. Med. 346: 1786-1791, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12050338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12050338</a>] [<a href="https://doi.org/10.1056/NEJMoa013354" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12050338">Lachmann et al. (2002)</a> identified heterozygosity for the V30M mutation in the TTR gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12050338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#120" class="mim-tip-reference" title="Kimura, A., Ando, E., Fukushima, M., Koga, T., Hirata, A., Arimura, K., Ando, Y., Negi, A., Tanihara, H. <strong>Secondary glaucoma in patients with familial amyloidotic polyneuropathy.</strong> Arch. Ophthal. 121: 351-356, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12617705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12617705</a>] [<a href="https://doi.org/10.1001/archopht.121.3.351" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12617705">Kimura et al. (2003)</a> reviewed the clinical features and surgical outcomes of the treatment of secondary glaucoma associated with TTR-related familial amyloidotic polyneuropathy. Secondary glaucoma was detected in 24% of 49 patients in the series, although the incidence of secondary glaucoma in patients with the val30-to-met mutation (17%) was lower than for the other FAP genotypes. Of 20 glaucomatous eyes, amyloid deposition on the pupil and anterior surface of the lens was found in 18 eyes. Amyloid deposition was detected prior to the onset of glaucoma in 11 of 20 eyes. Surgical treatment of glaucoma was required in 15 out of 20 eyes. In 9 out of 11 eyes treated with trabeculectomy, intraocular pressure was well controlled during the follow-up period. <a href="#120" class="mim-tip-reference" title="Kimura, A., Ando, E., Fukushima, M., Koga, T., Hirata, A., Arimura, K., Ando, Y., Negi, A., Tanihara, H. <strong>Secondary glaucoma in patients with familial amyloidotic polyneuropathy.</strong> Arch. Ophthal. 121: 351-356, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12617705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12617705</a>] [<a href="https://doi.org/10.1001/archopht.121.3.351" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12617705">Kimura et al. (2003)</a> concluded that glaucoma is not a rare condition in patients with FAP, especially since liver transplantation enables patients with FAP to live longer. Careful observation of amyloid deposition along the pupil allowed the prediction of glaucoma onset. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12617705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 37 patients with FAP, <a href="#126" class="mim-tip-reference" title="Koga, T., Ando, E., Hirata, A., Fukushima, M., Kimura, A., Ando, Y., Negi, A., Tanihara, H. <strong>Vitreous opacities and outcome of vitreous surgery in patients with familial amyloidotic polyneuropathy.</strong> Am. J. Ophthal. 135: 188-193, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12566023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12566023</a>] [<a href="https://doi.org/10.1016/s0002-9394(02)01838-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12566023">Koga et al. (2003)</a> found vitreous opacities in 14 eyes of 9 patients. They found that the val30-to-met and tyr114-to-cys (<a href="#0011">176300.0011</a>) mutations induced different types of vitreous opacities. However, vitreous surgery combined with phacoemulsification and implantation of an intraocular lens was a safe and useful treatment in these patients. The authors advised long-term follow-up of these patients postoperatively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12566023" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Modification of Effect</em></strong></p><p>
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Anticipation, a phenomenon characterized by progressively earlier onset or increased severity of clinical symptoms in succeeding generations, was recognized in the V30M form of FAP in Portugal (<a href="#222" class="mim-tip-reference" title="Soares, M., Buxbaum, J., Sirugo, G., Coelho, T., Sousa, A., Kastner, D., Saraiva, M. J. <strong>Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions.</strong> Hum. Genet. 104: 480-485, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10453736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10453736</a>] [<a href="https://doi.org/10.1007/s004390050991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10453736">Soares et al., 1999</a>), Sweden (<a href="#45" class="mim-tip-reference" title="Drugge, U., Andersson, R., Chizari, F., Danielsson, M., Holmgren, G., Sandgren, O., Sousa, A. <strong>Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.</strong> J. Med. Genet. 30: 388-392, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8100581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8100581</a>] [<a href="https://doi.org/10.1136/jmg.30.5.388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8100581">Drugge et al., 1993</a>), and Japan (<a href="#231" class="mim-tip-reference" title="Tashima, K., Ando, Y., Tanaka, Y., Uchino, M., Ando, M. <strong>Change in the age of onset in patients with familial amyloidotic polyneuropathy type I.</strong> Intern. Med. 34: 748-750, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8563114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8563114</a>] [<a href="https://doi.org/10.2169/internalmedicine.34.748" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8563114">Tashima et al., 1995</a>). <a href="#261" class="mim-tip-reference" title="Yamamoto, K., Ikeda, S., Hanyu, N., Takeda, S., Yanagisawa, N. <strong>A pedigree analysis with minimized ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy.</strong> J. Med. Genet. 35: 23-30, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9475090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9475090</a>] [<a href="https://doi.org/10.1136/jmg.35.1.23" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9475090">Yamamoto et al. (1998)</a> eliminated some of the possible sources of ascertainment biases described by <a href="#167" class="mim-tip-reference" title="Penrose, L. S. <strong>The problems of anticipation in pedigrees of dystrophia myotonica.</strong> Ann. Eugen. 14: 125-132, 1948.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18863976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18863976</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1947.tb02384.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18863976">Penrose (1948)</a> in their study of the V30M form of FAP in Japanese kindreds, indicating that anticipation also occurs in this population. Anticipation has been associated with the dynamic expansion of trinucleotide repeats in several neurodegenerative disorders, such as Huntington disease, myotonic dystrophy, and fragile X syndrome. <a href="#222" class="mim-tip-reference" title="Soares, M., Buxbaum, J., Sirugo, G., Coelho, T., Sousa, A., Kastner, D., Saraiva, M. J. <strong>Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions.</strong> Hum. Genet. 104: 480-485, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10453736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10453736</a>] [<a href="https://doi.org/10.1007/s004390050991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10453736">Soares et al. (1999)</a> used the repeat expansion detection (RED) assay to screen affected members of Portuguese FAP kindreds for expansion of any of the 10 possible trinucleotide repeats. Nine generational pairs with differences in their age of onset greater than 12 years and a control pair with identical ages of onset were tested. No major differences were found in the lengths of the 10 trinucleotide repeats analyzed. The distribution of maximal repeat sizes was consistent with reported studies in unrelated individuals with no known genetic disease. Thus, no support was obtained for a role for trinucleotide repeat expansions as the molecular mechanism underlying anticipation in Portuguese FAP. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8563114+9475090+8100581+10453736+18863976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#144" class="mim-tip-reference" title="Munar-Ques, M., Pedrosa, J. L., Coelho, T., Gusmao, L., Seruca, R., Amorim, A., Sequeiros, J. <strong>Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30.</strong> J. Med. Genet. 36: 629-632, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465115</a>]" pmid="10465115">Munar-Ques et al. (1999)</a> reported 2 pairs of proven monozygotic twins with the V30M mutation and reviewed data from 2 other pairs of presumed monozygotic twins who were discordant for age of onset and clinical features of FAP. By comparison with twin pairs with other mendelian disorders, <a href="#144" class="mim-tip-reference" title="Munar-Ques, M., Pedrosa, J. L., Coelho, T., Gusmao, L., Seruca, R., Amorim, A., Sequeiros, J. <strong>Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30.</strong> J. Med. Genet. 36: 629-632, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465115</a>]" pmid="10465115">Munar-Ques et al. (1999)</a> concluded that in addition to modifier genes, there must be a significant contribution to the phenotype from nongenetic factors, either environmental or stochastic events. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10465115" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>To analyze factors contributing to the phenotypic variability of FAP, <a href="#224" class="mim-tip-reference" title="Soares, M. L., Coelho, T., Sousa, A., Holmgren, G., Saraiva, M. J., Kastner, D. L., Buxbaum, J. N. <strong>Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden.</strong> Europ. J. Hum. Genet. 12: 225-237, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14673473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14673473</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201095" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14673473">Soares et al. (2004)</a> characterized variations within the wildtype and mutant V30M TTR genes and their flanking sequences from 170 Portuguese and Swedish carriers of V30M. They identified 10 new polymorphisms in the TTR untranslated regions, 8 resulting from single-base substitutions and 2 arising from insertion/deletions in dinucleotide repeat sequences. The data suggested that the onset of symptoms of FAP V30M may be modulated by an interval downstream of TTR on the accompanying noncarrier chromosome (defined by microsatellites D18S457 and D18S456). <a href="#224" class="mim-tip-reference" title="Soares, M. L., Coelho, T., Sousa, A., Holmgren, G., Saraiva, M. J., Kastner, D. L., Buxbaum, J. N. <strong>Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden.</strong> Europ. J. Hum. Genet. 12: 225-237, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14673473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14673473</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201095" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14673473">Soares et al. (2004)</a> also identified the first instance of intragenic haplotype III associated with V30M FAP in the Portuguese population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14673473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The amyloid polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>) in a Jewish patient was said by Pras et al. (<a href="#170" class="mim-tip-reference" title="Pras, M., Franklin, E. C., Prelli, F., Frangione, B. <strong>A variant of prealbumin from amyloid fibrils in familial polyneuropathy of Jewish origin.</strong> J. Exp. Med. 154: 989-993, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6168726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6168726</a>] [<a href="https://doi.org/10.1084/jem.154.3.989" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6168726">1981</a>, <a href="#171" class="mim-tip-reference" title="Pras, M., Prelli, F., Franklin, E. C., Frangione, B. <strong>Primary structure of an amyloid prealbumin variant in familial polyneuropathy of Jewish origin.</strong> Proc. Nat. Acad. Sci. 80: 539-542, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6300852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6300852</a>] [<a href="https://doi.org/10.1073/pnas.80.2.539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6300852">1983</a>) to have substitution of glycine for threonine at position 49 and by <a href="#152" class="mim-tip-reference" title="Nakazato, M., Kangawa, K., Minamino, N., Tawara, S., Matsuo, H., Araki, S. <strong>Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin.</strong> Biochem. Biophys. Res. Commun. 123: 921-928, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6487335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6487335</a>] [<a href="https://doi.org/10.1016/s0006-291x(84)80222-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6487335">Nakazato et al. (1984)</a> to have substitution of isoleucine for phenylalanine at position 33 (F33I). According to <a href="#25" class="mim-tip-reference" title="Benson, M. D. <strong>Personal Communication.</strong> Indianapolis, Ind. 12/8/1988."None>Benson (1988)</a>, the assignment of the change at position 33 is well established. <a href="#29" class="mim-tip-reference" title="Benson, M. D. <strong>Amyloidosis. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 5345-5378."None>Benson (2001)</a> noted that the F33I mutation was verified by DNA sequence studies, which failed to show any mutation at codon 49. Severe gastrointestinal involvement was present (<a href="#26" class="mim-tip-reference" title="Benson, M. D. <strong>Inherited amyloidosis.</strong> J. Med. Genet. 28: 73-78, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1848299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1848299</a>] [<a href="https://doi.org/10.1136/jmg.28.2.73" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1848299">Benson, 1991</a>). This variant was referred to as familial amyloid polyneuropathy, Jewish type. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6168726+1848299+6487335+6300852" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918069 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918069;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014362 OR RCV000159437 OR RCV002444430" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014362, RCV000159437, RCV002444430" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014362...</a>
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<p>Substitution of histidine for leucine at position 58 (A-to-T change) of the TTR gene (L58H) results in the amyloid polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>) observed in the large Maryland kindred of German extraction studied by <a href="#136" class="mim-tip-reference" title="Mahloudji, M., Teasdall, R. D., Adamkiewicz, J. J., Hartmann, W. H., Lambird, P. A., McKusick, V. A. <strong>The genetic amyloidoses with particular reference to hereditary neuropathic amyloidosis, type II (Indiana or Rukavina type).</strong> Medicine 48: 1-37, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4884226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4884226</a>]" pmid="4884226">Mahloudji et al. (1969)</a> and thought by them on clinical grounds alone to have the same disorder as that reported by <a href="#182" class="mim-tip-reference" title="Rukavina, J. G., Block, W. D., Curtis, A. C. <strong>Familial primary systemic amyloidosis: an experimental, genetic and clinical study.</strong> J. Invest. Derm. 27: 111-131, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13367520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13367520</a>] [<a href="https://doi.org/10.1038/jid.1956.84" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13367520">Rukavina et al. (1956)</a>; see <a href="#0006">176300.0006</a>. This was the first amyloidosis-producing mutation in TTR to be identified by direct sequencing after amplification of the gene by PCR. <a href="#156" class="mim-tip-reference" title="Nichols, W. C., Liepnieks, J. J., McKusick, V. A., Benson, M. D. <strong>A prealbumin (transthyretin) mutation associated with familial amyloidotic polyneuropathy type II (Maryland/German). (Abstract)</strong> Clin. Res. 37: 542A, 1989."None>Nichols et al. (1989)</a> demonstrated a T-to-A substitution at the second base of the codon for leucine 58 causing a change to histidine. Since the mutation did not result in a change in the restriction pattern of the prealbumin gene, <a href="#157" class="mim-tip-reference" title="Nichols, W. C., Liepnieks, J. J., McKusick, V. A., Benson, M. D. <strong>Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification.</strong> Genomics 5: 535-540, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2613237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2613237</a>] [<a href="https://doi.org/10.1016/0888-7543(89)90020-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2613237">Nichols et al. (1989)</a> developed a new method for direct detection of single-base changes in genomic DNA using PCR and an allele-specific oligonucleotide primer. <a href="#138" class="mim-tip-reference" title="Mendell, J. R., Jiang, X.-S., Warmolts, J. R., Nichols, W. C., Benson, M. D. <strong>Diagnosis of Maryland/German familial amyloidotic polyneuropathy using allele-specific, enzymatically amplified, genomic DNA.</strong> Ann. Neurol. 27: 553-557, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2360796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2360796</a>] [<a href="https://doi.org/10.1002/ana.410270516" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2360796">Mendell et al. (1990)</a> diagnosed the defect in the Maryland/German type by allele-specific enzymatic amplification of genomic DNA to demonstrate the his58 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4884226+13367520+2360796+2613237" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#84" class="mim-tip-reference" title="Hund, E., Linke, R. P., Willig, M. D., Grau, A. <strong>Transthyretin-associated neuropathic amyloidosis: pathogenesis and treatment.</strong> Neurology 56: 431-435, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11261421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11261421</a>] [<a href="https://doi.org/10.1212/wnl.56.4.431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11261421">Hund et al. (2001)</a> noted that the Maryland/German type of familial amyloid polyneuropathy (described by <a href="#136" class="mim-tip-reference" title="Mahloudji, M., Teasdall, R. D., Adamkiewicz, J. J., Hartmann, W. H., Lambird, P. A., McKusick, V. A. <strong>The genetic amyloidoses with particular reference to hereditary neuropathic amyloidosis, type II (Indiana or Rukavina type).</strong> Medicine 48: 1-37, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4884226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4884226</a>]" pmid="4884226">Mahloudji et al. (1969)</a> and resulting from a L58H substitution) had been classified as familial amyloid polyneuropathy type II (FAP II). FAP II is characterized by a course of disease with polyneuropathy beginning at the hands and frequent carpal tunnel syndrome operations. <a href="#29" class="mim-tip-reference" title="Benson, M. D. <strong>Amyloidosis. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 5345-5378."None>Benson (2001)</a> noted that in FAP resulting from the L58H mutation, death is frequently caused by cardiomyopathy. The Maryland/German type is distinguished from the Indiana/Swiss type (<a href="#0006">176300.0006</a>) by a lack of vitreous opacities. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4884226+11261421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Although they also lived in the Maryland area, the family originally reported by <a href="#215" class="mim-tip-reference" title="Shulman, L. E., Bartter, F. C. <strong>Familial primary amyloidosis. (Abstract)</strong> Bull. Johns Hopkins Hosp. 98: 238-239, 1956."None>Shulman and Bartter (1956)</a>, <a href="#119" class="mim-tip-reference" title="Kaufman, H. E. <strong>Primary familial amyloidosis.</strong> AMA Arch. Ophthalmol. 60: 1036-1043, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13593935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13593935</a>] [<a href="https://doi.org/10.1001/archopht.1958.00940081056009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13593935">Kaufman (1958)</a>, <a href="#118" class="mim-tip-reference" title="Kaufman, H. E., Thomas, L. B. <strong>Vitreous opacities diagnostic of familial primary amyloidosis.</strong> New Eng. J. Med. 261: 1267-1271, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14404854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14404854</a>] [<a href="https://doi.org/10.1056/NEJM195912172612503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14404854">Kaufman and Thomas (1959)</a>, <a href="#259" class="mim-tip-reference" title="Wong, V. G., McFarlin, D. E. <strong>Primary familial amyloidosis.</strong> Arch. Ophthal. 78: 208-213, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4952599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4952599</a>] [<a href="https://doi.org/10.1001/archopht.1967.00980030210015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4952599">Wong and McFarlin (1967)</a>, and <a href="#43" class="mim-tip-reference" title="Dalakas, M. C., Engel, W. K. <strong>Amyloid in hereditary amyloid polyneuropathy is related to prealbumin.</strong> Arch. Neurol. 38: 420-422, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7018469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7018469</a>] [<a href="https://doi.org/10.1001/archneur.1981.00510070054008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7018469">Dalakas and Engel (1981)</a> was thought to have had a different mutation (<a href="#107" class="mim-tip-reference" title="Jacobson, D. R., Santiago-Schwarz, F., Rosenthal, C. J., Buxbaum, J. <strong>Identification of new restriction fragment length polymorphisms associated with familial amyloidotic polyneuropathy. (Abstract)</strong> Clin. Res. 35: 594A, 1987."None>Jacobson et al., 1987</a>; <a href="#36" class="mim-tip-reference" title="Buxbaum, J. N. <strong>Personal Communication.</strong> New York, N. Y. 4/6/1987."None>Buxbaum, 1987</a>). The disorder in this kindred was unusually severe with relatively early death and extensive involvement of the ocular vitreous. <a href="#101" class="mim-tip-reference" title="Jacobson, D. R., McFarlin, D. E., Kane, I., Buxbaum, J. N. <strong>Transthyretin pro-55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.</strong> Hum. Genet. 89: 353-356, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1351039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1351039</a>] [<a href="https://doi.org/10.1007/BF00220559" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1351039">Jacobson et al. (1992)</a> indeed demonstrated a distinct mutation: a leu55-to-pro substitution in the TTR gene (<a href="#0022">176300.0022</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7018469+13593935+4952599+14404854+1351039" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918070 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918070;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918070?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918070" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918070" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014363 OR RCV000159427 OR RCV000852477 OR RCV001173293 OR RCV002453258" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014363, RCV000159427, RCV000852477, RCV001173293, RCV002453258" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014363...</a>
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<p><a href="#251" class="mim-tip-reference" title="Wallace, M. R., Dwulet, F. E., Conneally, P. M., Benson, M. D. <strong>Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis.</strong> J. Clin. Invest. 78: 6-12, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3722385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3722385</a>] [<a href="https://doi.org/10.1172/JCI112573" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3722385">Wallace et al. (1986)</a> found substitution of alanine for threonine at position 60 of transthyretin (T60A) in an Irish kindred with familial amyloid polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>) from the Appalachian region of the United States. As in the Indiana form (<a href="#0006">176300.0006</a>), major deposits of amyloid occurred in the heart, but otherwise the disorder appeared 'to have a unique disease progression.' <a href="#21" class="mim-tip-reference" title="Benson, M. D., Wallace, M. R., Tejada, E., Baumann, H., Page, B. <strong>Hereditary amyloidosis: description of a new American kindred with late onset cardiomyopathy: Appalachian amyloid.</strong> Arthritis Rheum. 30: 195-200, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3030336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3030336</a>] [<a href="https://doi.org/10.1002/art.1780300210" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3030336">Benson et al. (1987)</a> gave the clinical description of the Appalachian kindred with hereditary amyloidosis and late-onset cardiomyopathy. The family was partially of Irish ancestry (<a href="#25" class="mim-tip-reference" title="Benson, M. D. <strong>Personal Communication.</strong> Indianapolis, Ind. 12/8/1988."None>Benson, 1988</a>). The proband of the family was 65 years old when he died of cardiomyopathy. For several years he had symptoms of peripheral neuropathy, including chronic diarrhea, bladder dysfunction, and sexual impotence. Bladder and prostatic biopsies were positive for amyloid. During the last few months of his life, he developed severe congestive heart failure and heart block that required a pacemaker. There were at least 22 affected individuals in the family. Although in general the late onset of the ailment placed it in type II amyloid polyneuropathy, the authors believed that the lack of eye involvement set the entity apart from the Indiana form of the disease. They pointed out the hazard that patients with this disorder will be misdiagnosed as having the immunoglobulin type of systemic amyloidosis, an error that might lead to chemotherapy and unjustified risk to the patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3030336+3722385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Amyloidosis resulting from this variant has been referred to as the Appalachian type (<a href="#248" class="mim-tip-reference" title="Wallace, M. R., Conneally, P. M., Benson, M. D. <strong>A DNA test for Indiana/Swiss hereditary amyloidosis (FAP II).</strong> Am. J. Hum. Genet. 43: 182-187, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2840822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2840822</a>]" pmid="2840822">Wallace et al., 1988</a>; <a href="#29" class="mim-tip-reference" title="Benson, M. D. <strong>Amyloidosis. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 5345-5378."None>Benson, 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2840822" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#125" class="mim-tip-reference" title="Koeppen, A. H., Wallace, M. R., Benson, M. D., Altland, K. <strong>Familial amyloid polyneuropathy: alanine-for-threonine substitution in the transthyretin (prealbumin) molecule.</strong> Muscle Nerve 13: 1065-1075, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2122246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2122246</a>] [<a href="https://doi.org/10.1002/mus.880131109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2122246">Koeppen et al. (1990)</a> restudied the family reported by <a href="#124" class="mim-tip-reference" title="Koeppen, A. H., Mitzen, E. J., Hans, M. B., Peng, S.-K., Bailey, R. O. <strong>Familial amyloid polyneuropathy.</strong> Muscle Nerve 8: 733-749, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4079954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4079954</a>] [<a href="https://doi.org/10.1002/mus.880080902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4079954">Koeppen et al. (1985)</a>. They updated and revised the pedigree and determined that the underlying mutation was thr60-to-ala, the Appalachian mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2122246+4079954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#227" class="mim-tip-reference" title="Staunton, H., Dervan, P., Kale, R., Linke, R. P., Kelly, P. <strong>Hereditary amyloid polyneuropathy in north west Ireland.</strong> Brain 110: 1231-1245, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3676699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3676699</a>] [<a href="https://doi.org/10.1093/brain/110.5.1231" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3676699">Staunton et al. (1987)</a> described transthyretin-derived amyloid polyneuropathy of a hereditary nature in County Donegal, Ireland. The clinical picture was most consistent with that of the Portuguese type, although the age of onset was somewhat older. In fact, however, as reported by <a href="#226" class="mim-tip-reference" title="Staunton, H., Davis, M. B., Guiloff, R. J., Nakazato, M., Miyazato, N., Harding, A. E. <strong>Irish (Donegal) amyloidosis is associated with the transthyretin-ala60 (Appalachian) variant.</strong> Brain 114: 2675-2679, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1664269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1664269</a>] [<a href="https://doi.org/10.1093/brain/114.6.2675" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1664269">Staunton et al. (1991)</a>, the mutation proved to be the thr60-to-ala Appalachian mutation which had been found in a family of Irish ancestry living in the Appalachian region of the U.S. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1664269+3676699" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 patients with cardiac amyloidosis, 3 of whom also had renal and or splenic involvement, <a href="#129" class="mim-tip-reference" title="Lachmann, H. J., Booth, D. R., Booth, S. E., Bybee, A., Gilbertson, J. A., Gillmore, J. D., Pepys, M. B., Hawkins, P. N. <strong>Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.</strong> New Eng. J. Med. 346: 1786-1791, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12050338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12050338</a>] [<a href="https://doi.org/10.1056/NEJMoa013354" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12050338">Lachmann et al. (2002)</a> identified heterozygosity for the T60A mutation in the TTR gene. The predominant clinical feature in these patients was cardiomyopathy and/or neuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12050338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918071 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918071;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014364 OR RCV000519257 OR RCV001000742 OR RCV001173289 OR RCV002433454 OR RCV002504783" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014364, RCV000519257, RCV001000742, RCV001173289, RCV002433454, RCV002504783" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014364...</a>
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<p><a href="#249" class="mim-tip-reference" title="Wallace, M. R., Conneally, P. M., Long, G. L., Benson, M. D. <strong>Molecular detection of carriers of hereditary amyloidosis in a Swedish-American family.</strong> Am. J. Med. Genet. 25: 335-341, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2877582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2877582</a>] [<a href="https://doi.org/10.1002/ajmg.1320250220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2877582">Wallace et al. (1986)</a> described a prealbumin variant associated with autosomal dominant amyloidosis (AMYLD1; <a href="/entry/105210">105210</a>) in an American patient of German ancestry living in Wisconsin. This involved substitution of tyrosine for serine at position 77 (S77Y) resulting from a C-to-A mutation in that codon. Using the restriction enzyme SspI and a specifically tailored genomic prealbumin oligonucleotide probe, Wallace et al. (<a href="#252" class="mim-tip-reference" title="Wallace, M. R., Dwulet, F. E., Williams, E. C., Conneally, P. M., Benson, M. D. <strong>Identification of a new prealbumin variant, TYR-77, associated with autosomal dominant amyloidosis. (Abstract)</strong> Am. J. Hum. Genet. 39: A22, 1986."None>1986</a>, <a href="#253" class="mim-tip-reference" title="Wallace, M. R., Dwulet, F. E., Williams, E. C., Conneally, P. M., Benson, M. D. <strong>Identification of a new hereditary amyloidosis prealbumin variant, tyr-77, and detection of the gene by DNA analysis.</strong> J. Clin. Invest. 81: 189-193, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2891727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2891727</a>] [<a href="https://doi.org/10.1172/JCI113293" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2891727">1988</a>) detected a single-nucleotide change in codon 77 of the variant prealbumin gene. <a href="#207" class="mim-tip-reference" title="Satier, F., Nichols, W. C., Benson, M. D. <strong>Diagnosis of familial amyloidotic polyneuropathy in France.</strong> Clin. Genet. 38: 469-473, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1981182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1981182</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1990.tb03615.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1981182">Satier et al. (1990)</a> found the same mutation in a family from Picardy, which is located in northern France, east of Normandy. Clinical onset was in the fifth and sixth decades with decreased sensation in the lower limbs followed by involvement of the arms. Motor changes appeared later. Cardiac involvement with congestive heart failure and arrhythmias was the cause of death. They stated that the American family of German origin was living in Illinois and that another American family with French Huguenot ancestors had been found with the tyr77 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1981182+2891727+2877582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Amyloidosis resulting from this variant has been referred to as the Illinois/German type (<a href="#248" class="mim-tip-reference" title="Wallace, M. R., Conneally, P. M., Benson, M. D. <strong>A DNA test for Indiana/Swiss hereditary amyloidosis (FAP II).</strong> Am. J. Hum. Genet. 43: 182-187, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2840822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2840822</a>]" pmid="2840822">Wallace et al., 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2840822" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>After the met30 mutation (<a href="#0001">176300.0001</a>), the tyr77 mutation is the most prevalent. <a href="#30" class="mim-tip-reference" title="Blanco-Jerez, C. R., Jimenez-Escrig, A., Gobernado, J. M., Lopez-Calvo, S., De Blas, G., Redondo, C., Garcia Villanueva, M., Orensanz, L. <strong>Transthyretin tyr77 familial amyloid polyneuropathy: a clinicopathological study of a large kindred.</strong> Muscle Nerve 21: 1478-1485, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9771673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9771673</a>] [<a href="https://doi.org/10.1002/(sici)1097-4598(199811)21:11<1478::aid-mus17>3.0.co;2-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9771673">Blanco-Jerez et al. (1998)</a> presented clinical and pathologic features of an extensive Spanish family with the tyr77 mutation of TTR. Twelve individuals over 4 generations were affected. They found that an initial and sometimes prolonged carpal tunnel syndrome, beginning between the sixth and seventh decades, characterized the tyr77 mutation. In most cases, this evolved to generalized peripheral nerve involvement, restrictive cardiomyopathy, and intestinal malabsorption. <a href="#30" class="mim-tip-reference" title="Blanco-Jerez, C. R., Jimenez-Escrig, A., Gobernado, J. M., Lopez-Calvo, S., De Blas, G., Redondo, C., Garcia Villanueva, M., Orensanz, L. <strong>Transthyretin tyr77 familial amyloid polyneuropathy: a clinicopathological study of a large kindred.</strong> Muscle Nerve 21: 1478-1485, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9771673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9771673</a>] [<a href="https://doi.org/10.1002/(sici)1097-4598(199811)21:11<1478::aid-mus17>3.0.co;2-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9771673">Blanco-Jerez et al. (1998)</a> suggested that, although survival with the tyr77 mutation is usually high, there are progressive cases that should be candidates for liver transplant, before severe impairment develops. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9771673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918072 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918072;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014365 OR RCV001810859 OR RCV002321479" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014365, RCV001810859, RCV002321479" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014365...</a>
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<p>Substitution of serine for isoleucine at position 84 of transthyretin (I84S) is found (<a href="#249" class="mim-tip-reference" title="Wallace, M. R., Conneally, P. M., Long, G. L., Benson, M. D. <strong>Molecular detection of carriers of hereditary amyloidosis in a Swedish-American family.</strong> Am. J. Med. Genet. 25: 335-341, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2877582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2877582</a>] [<a href="https://doi.org/10.1002/ajmg.1320250220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2877582">Wallace et al., 1986</a>) in the Indiana Swiss family with familial amyloid polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>) originally reported by <a href="#182" class="mim-tip-reference" title="Rukavina, J. G., Block, W. D., Curtis, A. C. <strong>Familial primary systemic amyloidosis: an experimental, genetic and clinical study.</strong> J. Invest. Derm. 27: 111-131, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13367520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13367520</a>] [<a href="https://doi.org/10.1038/jid.1956.84" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13367520">Rukavina et al. (1956)</a>. Amyloidosis resulting from this variant has been referred to as the Indiana/Swiss type (<a href="#248" class="mim-tip-reference" title="Wallace, M. R., Conneally, P. M., Benson, M. D. <strong>A DNA test for Indiana/Swiss hereditary amyloidosis (FAP II).</strong> Am. J. Hum. Genet. 43: 182-187, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2840822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2840822</a>]" pmid="2840822">Wallace et al., 1988</a>; <a href="#29" class="mim-tip-reference" title="Benson, M. D. <strong>Amyloidosis. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 5345-5378."None>Benson, 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13367520+2840822+2877582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Neuropathic manifestations begin and predominate in the upper limbs. Carpal tunnel syndrome (pain, numbness and weakness referable to the median nerve and atrophy of the abductor pollicis brevis muscle) is the characteristic feature and is relieved by decompression of the carpal tunnel. Onset is usually in the 40s and progression to generalized neuropathy is slow so that survival for 20 years or more after onset is the rule. The disease is milder in females. Amyloidosis with this course of disease has been designated FAP type II (<a href="#84" class="mim-tip-reference" title="Hund, E., Linke, R. P., Willig, M. D., Grau, A. <strong>Transthyretin-associated neuropathic amyloidosis: pathogenesis and treatment.</strong> Neurology 56: 431-435, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11261421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11261421</a>] [<a href="https://doi.org/10.1212/wnl.56.4.431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11261421">Hund et al., 2001</a>). Vitreous opacities and visceral manifestations are less conspicuous than in amyloidosis I (see <a href="#0001">176300.0001</a>). The Indiana type was observed by <a href="#182" class="mim-tip-reference" title="Rukavina, J. G., Block, W. D., Curtis, A. C. <strong>Familial primary systemic amyloidosis: an experimental, genetic and clinical study.</strong> J. Invest. Derm. 27: 111-131, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13367520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13367520</a>] [<a href="https://doi.org/10.1038/jid.1956.84" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13367520">Rukavina et al. (1956)</a> in many members of a religious sect of Swiss origin living in Indiana. <a href="#136" class="mim-tip-reference" title="Mahloudji, M., Teasdall, R. D., Adamkiewicz, J. J., Hartmann, W. H., Lambird, P. A., McKusick, V. A. <strong>The genetic amyloidoses with particular reference to hereditary neuropathic amyloidosis, type II (Indiana or Rukavina type).</strong> Medicine 48: 1-37, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4884226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4884226</a>]" pmid="4884226">Mahloudji et al. (1969)</a> observed what they thought to be the same disorder in an equally large number of persons of German extraction living in Frederick and Washington counties of Maryland. This proved to be a different mutation; see <a href="#0003">176300.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4884226+13367520+11261421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the kindred studied by <a href="#182" class="mim-tip-reference" title="Rukavina, J. G., Block, W. D., Curtis, A. C. <strong>Familial primary systemic amyloidosis: an experimental, genetic and clinical study.</strong> J. Invest. Derm. 27: 111-131, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13367520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13367520</a>] [<a href="https://doi.org/10.1038/jid.1956.84" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13367520">Rukavina et al. (1956)</a>, <a href="#16" class="mim-tip-reference" title="Benson, M. D., Dwulet, F. E. <strong>Prealbumin and retinol binding protein serum concentrations in the Indiana type hereditary amyloidosis.</strong> Arthritis Rheum. 26: 1493-1498, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6686039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6686039</a>] [<a href="https://doi.org/10.1002/art.1780261211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6686039">Benson and Dwulet (1983)</a> found that prealbumin and retinol-binding protein were low in 9 patients. Offspring of affected persons fell into 2 groups: one with prealbumin and RBP levels like those in the normal parent and the other with prealbumin and RBP levels like those in affected persons. Thus, serum abnormalities may be present long before development of clinical disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13367520+6686039" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Benson, M. D., Dwulet, F. E. <strong>Identification of a new amino acid substitution in plasma prealbumin associated with hereditary amyloidosis. (Abstract)</strong> Clin. Res. 33: 590a, 1985."None>Benson and Dwulet (1985)</a> and <a href="#49" class="mim-tip-reference" title="Dwulet, F. E., Benson, M. D. <strong>Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss).</strong> J. Clin. Invest. 78: 880-886, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3760189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3760189</a>] [<a href="https://doi.org/10.1172/JCI112675" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3760189">Dwulet and Benson (1986)</a> found a prealbumin with substitution of serine for isoleucine at position 84 in the original Indiana kindred with FAP type II. The change from isoleucine to serine results from substitution of guanine for thymine as the second nucleotide in codon 84. Substitution at 84 reduces affinity of prealbumin for RBP. The low serum levels may be explained thereby, because RBP unbound to PALB is quickly cleared by the kidney. By Southern blot analysis of a genomic prealbumin probe, <a href="#248" class="mim-tip-reference" title="Wallace, M. R., Conneally, P. M., Benson, M. D. <strong>A DNA test for Indiana/Swiss hereditary amyloidosis (FAP II).</strong> Am. J. Hum. Genet. 43: 182-187, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2840822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2840822</a>]" pmid="2840822">Wallace et al. (1988)</a> demonstrated that the T-to-G change in codon 84 creates an extra AluI site in DNA. This can be used as a direct, reliable DNA test for the ser84 prealbumin gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3760189+2840822" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Benson, M. D. <strong>Personal Communication.</strong> Indianapolis, Ind. 12/22/1986."None>Benson (1986)</a> suggested that there is a higher incidence of vitreous and heart involvement and possibly a higher incidence of carpal tunnel syndrome in the Indiana kindred than in the Maryland kindred. <a href="#70" class="mim-tip-reference" title="Harats, N., Worth, R. M., Benson, M. D. <strong>Hereditary amyloidosis: evidence against early amyloid deposition.</strong> Arthritis Rheum. 32: 1474-1476, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2510740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2510740</a>] [<a href="https://doi.org/10.1002/anr.1780321119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2510740">Harats et al. (1989)</a> found no evidence of amyloid in the skin, rectum, or carpal tunnel in patients aged 26 to 37 from the Indiana kindred with no clinical evidence of the disease, but with biochemical evidence (in serum) of being affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2510740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#270" class="mim-tip-reference" title="Zolyomi, Z., Benson, M. D., Halasz, K., Uemichi, T., Fekete, G. <strong>Transthyretin mutation (serine 84) associated with familial amyloid polyneuropathy in a Hungarian family.</strong> Amyloid 5: 30-34, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9547003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9547003</a>] [<a href="https://doi.org/10.3109/13506129809007287" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9547003">Zolyomi et al. (1998)</a> described the same ile84-to-ser TTR mutation in affected members of a Hungarian family with familial amyloid polyneuropathy. This is said to be the first demonstration of this mutation in Europe. Although no genealogic link has been established between the Indiana kindred with Swiss/German origin and the Hungarian kindred, haplotype analysis suggested that they had a common origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9547003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918073 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918073;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918073" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918073" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014366 OR RCV003162251" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014366, RCV003162251" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014366...</a>
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<p><a href="#60" class="mim-tip-reference" title="Frederiksen, T., Gotzsche, H., Harboe, N., Kiaer, W., Mellemgaard, K. <strong>Familial primary amyloidosis with severe amyloid heart disease.</strong> Am. J. Med. 33: 328-348, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13894830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13894830</a>] [<a href="https://doi.org/10.1016/0002-9343(62)90230-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13894830">Frederiksen et al. (1962)</a> in Denmark described a family in which 7 of 12 sibs had progressive heart failure due to cardiac amyloidosis (AMYLD1; <a href="/entry/105210">105210</a>). The onset of heart failure was at about age 40 years, with progression to death in 3 to 6 years. Cardiac catheterization showed constrictive-type right-ventricular pressure curves. The children and grandchildren of the affected persons were too young to show the condition. The father was living and well at age 74. The mother, who died in the influenza epidemic of 1918, was said to have been always sickly and to have swollen legs, but did bear 12 offspring. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13894830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#86" class="mim-tip-reference" title="Husby, G., Ranlov, P. J., Sletten, K., Marhaug, G. <strong>Prealbumin nature of the amyloid in familial amyloid cardiomyopathy of Danish origin. In: Glenner, G. G.; Osserman, E. F.; Bendit, E. P.; Calkins, E.; Cohen, A. S.; Zucker-Franklin, D. (eds.): Amyloidosis.</strong> New York: Plenum (pub.) 1986. Pp. 391-399."None>Husby et al. (1986)</a> found a substitution of methionine for leucine at position 111 in transthyretin (L111M) as the basis of the cardiac amyloidosis described in Danes by <a href="#60" class="mim-tip-reference" title="Frederiksen, T., Gotzsche, H., Harboe, N., Kiaer, W., Mellemgaard, K. <strong>Familial primary amyloidosis with severe amyloid heart disease.</strong> Am. J. Med. 33: 328-348, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13894830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13894830</a>] [<a href="https://doi.org/10.1016/0002-9343(62)90230-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13894830">Frederiksen et al. (1962)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13894830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#161" class="mim-tip-reference" title="Nordvag, B.-Y., Husby, G., Ranlov, I., El-Gewely, M. R. <strong>Molecular diagnosis of the transthyretin (TTR) met-111 mutation in familial amyloid cardiomyopathy of Danish origin.</strong> Hum. Genet. 89: 459-461, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1618497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1618497</a>] [<a href="https://doi.org/10.1007/BF00194324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1618497">Nordvag et al. (1992)</a> described a diagnostic test for the molecular detection of this mutation. DdeI digestion of PCR-amplified genomic DNA from patients revealed 3 bands by gel electrophoresis, whereas amplified DNA of controls showed 2 bands. <a href="#162" class="mim-tip-reference" title="Nordvag, B.-Y., Ranlov, I., Riise, H. M. F., Husby, G., El-Gewely, M. R. <strong>Retrospective molecular detection of transthyretin Met 111 mutation in a Danish kindred with familial amyloid cardiomyopathy, using DNA from formalin-fixed and paraffin-embedded tissues.</strong> Hum. Genet. 92: 265-268, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8406434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8406434</a>] [<a href="https://doi.org/10.1007/BF00244470" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8406434">Nordvag et al. (1993)</a> applied this test in a retrospective study of DNA from 65 formalin-fixed, paraffin-embedded tissues obtained at autopsy or biopsy from 29 members of the Danish family. The leu111-to-met mutation was found in 10, whereas 13 were not affected. The results were consistent with known clinical data and with corresponding serum TTR examinations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8406434+1618497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#175" class="mim-tip-reference" title="Ranlov, I., Alves, I. L., Ranlov, P. J., Husby, G., Costa, P. P., Saraiva, M. J. M. <strong>A Danish kindred with familial amyloid cardiomyopathy revisited: identification of a mutant transthyretin-methionine-111 variant in serum from patients and carriers.</strong> Am. J. Med. 93: 3-8, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1626570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1626570</a>] [<a href="https://doi.org/10.1016/0002-9343(92)90672-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1626570">Ranlov et al. (1992)</a> gave a follow-up on the original Danish kindred. They had available stored, frozen serum samples obtained in 1959 and 1960 from 36 of 40 living members of the kindred. They found that none of the 18 members of the kindred who tested negative for the leu111-to-met mutation had developed cardiomyopathy. The leu111-to-met carrier who died as a result of an accident at age 22 showed no postmortem evidence of amyloid deposits. All 7 persons who developed amyloidosis had the mutation. In an accompanying editorial, <a href="#27" class="mim-tip-reference" title="Benson, M. D. <strong>Hereditary amyloidosis and cardiomyopathy. (Editorial)</strong> Am. J. Med. 93: 1-2, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1626556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1626556</a>] [<a href="https://doi.org/10.1016/0002-9343(92)90671-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1626556">Benson (1992)</a> pointed out features of amyloid cardiomyopathy that should be considered when there are systemic features such as nephrotic syndrome, gastrointestinal motility disturbance, neuropathy, and purpura. Cardiac amyloidosis can result in angina pectoris when there is no significant coronary vessel disease, possibly because of small vessel rigidity due to amyloid deposits. The typical electrocardiogram shows changes usually interpreted as 'anteroseptal myocardial infarction, age undetermined.' The 'pseudoinfarction' pattern results presumably from dense amyloid infiltration. Left atrial enlargement results from the restrictive nature of the process. The echocardiogram may be interpreted as showing 'good systolic function'; the pathophysiologic problem is in filling, not emptying, of the ventricle. <a href="#163" class="mim-tip-reference" title="Nordvag, B.-Y. <strong>Molecular genetic studies of inherited, transthyretin-related amyloidosis causing severe cardiac disease in a Danish family. (Abstract)</strong> Scand. J. Rheum. 24: 179, 1995."None>Nordvag (1995)</a> indicated that carpal tunnel syndrome was the presenting symptom in the Danish kindred with familial amyloid cardiopathy, although the heart was the major affected organ. Patients with the leu111-to-met mutation had significantly depressed free thyroxine serum levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1626570+1626556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Benson, M. D. <strong>Amyloidosis. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 5345-5378."None>Benson (2001)</a> noted that the kindred originally described by <a href="#60" class="mim-tip-reference" title="Frederiksen, T., Gotzsche, H., Harboe, N., Kiaer, W., Mellemgaard, K. <strong>Familial primary amyloidosis with severe amyloid heart disease.</strong> Am. J. Med. 33: 328-348, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13894830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13894830</a>] [<a href="https://doi.org/10.1016/0002-9343(62)90230-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13894830">Frederiksen et al. (1962)</a> was the only one to be reported with this mutation. This form of amyloidosis had been referred to as the Danish or cardiac type. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13894830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 TRANSTHYRETIN POLYMORPHISM</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014367" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014367" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014367</a>
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<p><a href="#229" class="mim-tip-reference" title="Strahler, J. R., Rosenblum, B. B., Hanash, S. M. <strong>Identification and characterization of a human transthyretin variant.</strong> Biochem. Biophys. Res. Commun. 148: 471-477, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3675594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3675594</a>] [<a href="https://doi.org/10.1016/0006-291x(87)91135-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3675594">Strahler et al. (1987)</a> described substitution of valine for tyrosine at position 116 in TTR in a family of French-Canadian descent. The variation had no evident pathologic consequences. Because this change requires 2 nucleotide substitutions, the authors proposed that it arose through mutation in a rare variant or a hitherto undetected polymorphic allele of human TTR. Either phenylalanine or glutamic acid at residue 116 are possible 'intermediate' alleles. <a href="#229" class="mim-tip-reference" title="Strahler, J. R., Rosenblum, B. B., Hanash, S. M. <strong>Identification and characterization of a human transthyretin variant.</strong> Biochem. Biophys. Res. Commun. 148: 471-477, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3675594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3675594</a>] [<a href="https://doi.org/10.1016/0006-291x(87)91135-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3675594">Strahler et al. (1987)</a> stated that although several electrophoretic variants of TTR had been described, this was the first definition of the underlying molecular substitution in a variant other than those that accompany amyloidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3675594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs76992529 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs76992529;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs76992529?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs76992529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs76992529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014368 OR RCV000078674 OR RCV000211747 OR RCV000243161 OR RCV000735409 OR RCV000853387 OR RCV001173290 OR RCV001310260 OR RCV002476965 OR RCV003319166 OR RCV003335038 OR RCV004798727" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014368, RCV000078674, RCV000211747, RCV000243161, RCV000735409, RCV000853387, RCV001173290, RCV001310260, RCV002476965, RCV003319166, RCV003335038, RCV004798727" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014368...</a>
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<p><a href="#29" class="mim-tip-reference" title="Benson, M. D. <strong>Amyloidosis. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 5345-5378."None>Benson (2001)</a> noted that the val122-to-ile mutation in transthyretin (V122I) was discovered in an individual with cardiomyopathy but no family history of amyloidosis (AMYLD1; <a href="/entry/105210">105210</a>) (<a href="#65" class="mim-tip-reference" title="Gorevic, P. D., Prelli, F. C., Wright, J., Pras, M., Frangione, B. <strong>Systemic senile amyloidosis; identification of a new prealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy.</strong> J. Clin. Invest. 83: 836-843, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2646319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2646319</a>] [<a href="https://doi.org/10.1172/JCI113966" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2646319">Gorevic et al., 1989</a>). It was first believed to explain some cases of senile cardiac amyloidosis. Both homozygous and heterozygous patients have been described. All affected individuals have been elderly, presenting after the age of 60 with cardiomyopathy, and nearly all have been African American. The mutation has been found in nearly 4% of selected African American cohorts and may be the cause of heart failure in a significant portion of the elderly in this population (<a href="#104" class="mim-tip-reference" title="Jacobson, D. R., Pastore, R., Pool, S., Malendowicz, S., Kane, I., Shivji, A., Embury, S. H., Ballas, S. K., Buxbaum, J. N. <strong>Revised transthyretin ile122 allele frequency in African-Americans.</strong> Hum. Genet. 98: 236-238, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8698351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8698351</a>] [<a href="https://doi.org/10.1007/s004390050199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8698351">Jacobson et al., 1996</a>). Peripheral neuropathy has been reported, but is a minor clinical manifestation of this syndrome. Because transthyretin amyloidosis is an autosomal dominant trait, the high allele frequency makes this one of the most important genetic mutations in the United States. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2646319+8698351" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#110" class="mim-tip-reference" title="Jiang, X., Buxbaum, J. N., Kelly, J. W. <strong>The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis.</strong> Proc. Nat. Acad. Sci. 98: 14943-14948, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11752443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11752443</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11752443[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.261419998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11752443">Jiang et al. (2001)</a> stated that the V122I variant is the most common amyloidogenic variant worldwide, with an estimated 1.3 million heterozygotes. Although the age of onset (typically older than 60 years) is similar for senile systemic amyloidosis and familial amyloidotic cardiomyopathy V122I patients, the latter are much more likely to suffer cardiac failure, especially in the case of V122I homozygotes. V122I cardiac disease penetrance approaches 100%, whereas senile systemic amyloidosis, involving wildtype TTR amyloid deposition in the heart, affects less than 25% of the population above age 80. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11752443" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a case of senile systemic amyloidosis in a 68-year-old black male, Jacobson et al. (<a href="#99" class="mim-tip-reference" title="Jacobson, D. R., Gorevic, P. D., Buxbaum, J. N. <strong>A homozygous transthyretin variant associated with senile systemic amyloidosis. (Abstract)</strong> Clin. Res. 36: 561A, 1988."None>1988</a>, <a href="#100" class="mim-tip-reference" title="Jacobson, D. R., Gorevic, P. D., Buxbaum, J. N. <strong>A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology.</strong> Am. J. Hum. Genet. 47: 127-136, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2349941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2349941</a>]" pmid="2349941">1990</a>) found an apparently homozygous substitution of isoleucine for valine at position 122 (V122I). No family members were available for study. This change predicted a genomic G-to-A transition, destroying an MaeIII restriction site. Homozygosity was established by the demonstration that the patient's DNA was entirely resistant to MaeIII cleavage. The variant was found in none of either 24 controls or 6 other patients with senile systemic amyloidosis. The only other report of homozygosity for a transthyretin mutation causing amyloidosis is the report by <a href="#79" class="mim-tip-reference" title="Holmgren, G., Haettner, E., Nordenson, I., Sandgren, O., Steen, L., Lundgren, E. <strong>Homozygosity for the transthyretin-met(30)-gene in two Swedish sibs with familial amyloidotic polyneuropathy.</strong> Clin. Genet. 34: 333-338, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3229002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3229002</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1988.tb02887.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3229002">Holmgren et al. (1988)</a> concerning the val30-to-met mutation (<a href="#0001">176300.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3229002+2349941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#65" class="mim-tip-reference" title="Gorevic, P. D., Prelli, F. C., Wright, J., Pras, M., Frangione, B. <strong>Systemic senile amyloidosis; identification of a new prealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy.</strong> J. Clin. Invest. 83: 836-843, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2646319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2646319</a>] [<a href="https://doi.org/10.1172/JCI113966" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2646319">Gorevic et al. (1989)</a> found that isolated amyloid fibrils from 3 cases of systemic senile amyloidosis contained subunit proteins that were transthyretin. Complete sequence analysis of 1 (presumably the same case as that studied by Jacobson et al. (<a href="#99" class="mim-tip-reference" title="Jacobson, D. R., Gorevic, P. D., Buxbaum, J. N. <strong>A homozygous transthyretin variant associated with senile systemic amyloidosis. (Abstract)</strong> Clin. Res. 36: 561A, 1988."None>1988</a>, <a href="#100" class="mim-tip-reference" title="Jacobson, D. R., Gorevic, P. D., Buxbaum, J. N. <strong>A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology.</strong> Am. J. Hum. Genet. 47: 127-136, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2349941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2349941</a>]" pmid="2349941">1990</a>)) showed the presence of a new variant TTR molecule with a single amino acid substitution of isoleucine for valine at position 122. Thus, systemic senile amyloidosis may, in some cases at least, be a genetically determined disease expressed late in life. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2646319+2349941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#221" class="mim-tip-reference" title="Snyder, E. L., Nichols, W. C., Liepnieks, J. J., Benson, M. D. <strong>Direct evidence for the hereditary nature of senile cardiac (systemic) amyloidosis. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A220, 1989."None>Snyder et al. (1989)</a> provided evidence for the hereditary nature of senile cardiac amyloidosis. They identified 2 brothers, both homozygous for the isoleucine-for-valine substitution at position 122. The substitution predicts a guanine-to-adenine substitution at the nucleotide corresponding to the first base of codon 122 (i.e., GTC to ATC) which would result in the loss of a MaeIII restriction endonuclease recognition site. The same change was found in the DNA of the son of 1 of the brothers in heterozygous state and was confirmed by analysis of the plasma prealbumin.</p><p><a href="#256" class="mim-tip-reference" title="Westermark, P., Sletten, K., Johansson, B., Cornwell, G. G., III. <strong>Fibril in senile systemic amyloidosis is derived from normal transthyretin.</strong> Proc. Nat. Acad. Sci. 87: 2843-2845, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2320592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2320592</a>] [<a href="https://doi.org/10.1073/pnas.87.7.2843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2320592">Westermark et al. (1990)</a> found that the transthyretin molecule is normal in cases of the common form of senile systemic amyloidosis that affects to some degree 25% of the population over 80 years of age. For this reason they concluded that factors other than the primary structure of TTR must be important in its pathogenesis. They suggested that the cardiomyopathy that is similar to senile systemic amyloidosis and is associated with the val122-to-ile mutation represents another rare form of amyloidosis separate from the common disorder. Using PCR around codon 122 and digestion with MaeIII, <a href="#105" class="mim-tip-reference" title="Jacobson, D. R., Reveille, J. D., Buxbaum, J. N. <strong>Frequency and genetic background of the position 122 (val-to-ile) variant transthyretin gene in the black population.</strong> Am. J. Hum. Genet. 49: 192-198, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2063870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2063870</a>]" pmid="2063870">Jacobson et al. (1991)</a> investigated the frequency of the val122-to-ile mutation in 177 black persons without amyloidosis and without overt cardiac disease. The MaeIII restriction site is eliminated by the val122-to-ile mutation. They found 4 examples of the MaeIII-negative gene among 354 chromosomes, giving a frequency of 1.1% (95% confidence interval 0.32-2.7%). Thus, the variant is relatively common in blacks. HLA genotyping did not suggest that the val122-to-ile heterozygotes were of closely related genetic background. DNA testing for this variant may be useful in the clinical evaluation of black patients with unexplained cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2063870+2320592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>It is useful to distinguish TTR-related cardiac amyloidosis from that due to deposition of immunoglobulin light chains, AL amyloid (<a href="#166" class="mim-tip-reference" title="Olson, L. J., Gertz, M. A., Edwards, W. D., Li, C.-Y., Pellikka, P. A., Holmes, D. R., Jr., Tajik, A. J., Kyle, R. A. <strong>Senile cardiac amyloidosis with myocardial dysfunction: diagnosis by endomyocardial biopsy and immunohistochemistry.</strong> New Eng. J. Med. 317: 738-742, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3627183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3627183</a>] [<a href="https://doi.org/10.1056/NEJM198709173171205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3627183">Olson et al., 1987</a>). The TTR disease has a better prognosis than does AL amyloidosis involving the heart. Chemotherapy, which is thought to be beneficial in AL amyloid (<a href="#128" class="mim-tip-reference" title="Kyle, R. A., Greipp, P. R., Garton, J. P., Gertz, M. A. <strong>Primary systemic amyloidosis: comparison of melphalan/prednisone versus colchicine.</strong> Am. J. Med. 79: 708-716, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3934968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3934968</a>] [<a href="https://doi.org/10.1016/0002-9343(85)90521-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3934968">Kyle et al., 1985</a>), may be of no value in TTR-amyloidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3627183+3934968" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>With a specific test for the val122-to-ile mutation, <a href="#108" class="mim-tip-reference" title="Jacobson, D. R. <strong>A specific test for transthyretin 122 (val-to-ile), based on PCR-primer-introduced restriction analysis (PCR-PIRA): confirmation of the gene frequency in blacks.</strong> Am. J. Hum. Genet. 50: 195-198, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1729888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1729888</a>]" pmid="1729888">Jacobson (1992)</a> confirmed that the mutation was present in heterozygous state in 4 of 177 healthy black individuals and as a homozygous variant in a person with cardiac amyloidosis. He suggested that genetic testing for this mutation would be worthwhile in the evaluation of patients with unexplained cardiomyopathy. <a href="#158" class="mim-tip-reference" title="Nichols, W. C., Liepnieks, J. J., Snyder, E. L., Benson, M. D. <strong>Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122).</strong> J. Lab. Clin. Med. 117: 175-180, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2002274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2002274</a>]" pmid="2002274">Nichols et al. (1991)</a> had found the val122-to-ile mutation in homozygous state in anther black patient with cardiac TTR-amyloidosis, and <a href="#200" class="mim-tip-reference" title="Saraiva, M. J. M., Sherman, W., Marboe, C., Figueira, A., Costa, P., De Freitas, A. F., Gawinowicz, M. A. <strong>Cardiac amyloidosis: report of a patient heterozygous for the transthyretin-isoleucine-122 variant.</strong> Scand. J. Immun. 32: 341-346, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2237288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2237288</a>] [<a href="https://doi.org/10.1111/j.1365-3083.1990.tb02928.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2237288">Saraiva et al. (1990)</a> had found it in heterozygous state in a black patient with the same disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1729888+2002274+2237288" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>After the age of 60, isolated cardiac amyloidosis is 4 times more common among blacks than whites in the United States; 3.9% of blacks are heterozygous for the amyloidogenic V122I (ile122) allele. <a href="#103" class="mim-tip-reference" title="Jacobson, D. R., Pastore, R. D., Yaghoubian, R., Kane, I., Gallo, G., Buck, F. S., Buxbaum, J. N. <strong>Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in Black Americans.</strong> New Eng. J. Med. 336: 466-473, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9017939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9017939</a>] [<a href="https://doi.org/10.1056/NEJM199702133360703" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9017939">Jacobson et al. (1997)</a> presented evidence that a high prevalence of transthyretin ile122 is at least partially responsible for the increased frequency of senile cardiac amyloidosis among blacks. They studied cardiac tissue from 32 blacks and 20 whites over 60 years of age with isolated cardiac amyloidosis. Transthyretin amyloidosis was identified in 31 of the 32 cardiac tissue samples from the black patients and in 19 of the 20 samples from the white patients. In 6 of the 26 analyzable DNA samples (23%) from the black patients and none of the 19 samples from the white patients, heterozygosity for the ile122 variant was found. In a second, age-matched cohort of blacks without amyloidosis at the same institution, 4 of 125 DNA samples obtained at autopsy (3.2%) were heterozygous for the ile122 allele. On reexamination, the cardiac tissue from these 4 patients contained small amounts of amyloid not detected at the initial autopsies. All subjects with the ile122 variant had ventricular amyloid. <a href="#103" class="mim-tip-reference" title="Jacobson, D. R., Pastore, R. D., Yaghoubian, R., Kane, I., Gallo, G., Buck, F. S., Buxbaum, J. N. <strong>Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in Black Americans.</strong> New Eng. J. Med. 336: 466-473, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9017939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9017939</a>] [<a href="https://doi.org/10.1056/NEJM199702133360703" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9017939">Jacobson et al. (1997)</a> concluded that the assessment of elderly black patients with unexplained heart disease should include a consideration of transthyretin amyloidosis, particularly that related to the ile122 allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9017939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#28" class="mim-tip-reference" title="Benson, M. D. <strong>Aging, amyloid, and cardiomyopathy. (Letter)</strong> New Eng. J. Med. 336: 502-504, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9017946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9017946</a>] [<a href="https://doi.org/10.1056/NEJM199702133360710" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9017946">Benson (1997)</a> stated that the best way to detect cardiac amyloidosis is with echocardiography. By the time a patient presents with symptoms of heart failure, the intraventricular septum and left ventricular posterior wall are thickened and the left atrium is often enlarged, an indication of the presence of restrictive cardiomyopathy of the left ventricle. Endomyocardial biopsy is also a valuable means of diagnosing cardiac amyloidosis and is recommended for patients scheduled to undergo cardiac catheterization because of a restrictive hemodynamic pattern. DNA testing is useful to confirm the hereditary nature of the disease and in counseling patients and their families. In the treatment of heart failure due to amyloidosis the avoidance of negative inotropic agents (including most antiarrhythmic medications) and overdiuresis and the maintenance of normal sinus rhythm contribute to a better outcome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9017946" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Askanas, V., Engel, W. K., McFerrin, J., Vattemi, G. <strong>Transthyretin val122ile, accumulated A-beta, and inclusion-body myositis aspects in cultured muscle.</strong> Neurology 61: 257-260, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12874414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12874414</a>] [<a href="https://doi.org/10.1212/01.wnl.0000071219.85847.4e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12874414">Askanas et al. (2003)</a> reported a 70-year-old African American man with sporadic inclusion body myositis (<a href="/entry/147421">147421</a>) and cardiac amyloidosis associated with the V122I mutation. Cultured skeletal muscle fibers from the patient showed vacuolar degeneration, congophilic inclusions, and clusters of colocalizing beta-amyloid and TTR immunoreactivities, none of which were found in normal cultured muscle fibers. Overexpression of the amyloid precursor protein gene (APP; <a href="/entry/104760">104760</a>) resulted in accelerated fiber degeneration, greater congophilic inclusions, and accumulation of heavy beta-amyloid oligomers. <a href="#13" class="mim-tip-reference" title="Askanas, V., Engel, W. K., McFerrin, J., Vattemi, G. <strong>Transthyretin val122ile, accumulated A-beta, and inclusion-body myositis aspects in cultured muscle.</strong> Neurology 61: 257-260, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12874414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12874414</a>] [<a href="https://doi.org/10.1212/01.wnl.0000071219.85847.4e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12874414">Askanas et al. (2003)</a> suggested that the V122I mutation may have predisposed the patient to inclusion body myositis by increasing beta-amyloid deposition in skeletal muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12874414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#110" class="mim-tip-reference" title="Jiang, X., Buxbaum, J. N., Kelly, J. W. <strong>The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis.</strong> Proc. Nat. Acad. Sci. 98: 14943-14948, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11752443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11752443</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11752443[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.261419998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11752443">Jiang et al. (2001)</a> demonstrated that the V122I variant, producing familial amyloidotic cardiomyopathy primarily in individuals of African descent, increases the velocity of rate-limiting tetramer dissociation, thus resulting in accelerated amyloidogenesis. <a href="#37" class="mim-tip-reference" title="Chakrabartty, A. <strong>Progress in transthyretin fibrillogenesis research strengthens the amyloid hypothesis. (Commentary)</strong> Proc. Nat. Acad. Sci. 98: 14757-14759, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11752419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11752419</a>] [<a href="https://doi.org/10.1073/pnas.261596398" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11752419">Chakrabartty (2001)</a> pointed out that the in vitro studies of <a href="#110" class="mim-tip-reference" title="Jiang, X., Buxbaum, J. N., Kelly, J. W. <strong>The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis.</strong> Proc. Nat. Acad. Sci. 98: 14943-14948, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11752443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11752443</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11752443[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.261419998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11752443">Jiang et al. (2001)</a> provided a biophysical explanation of how disease-associated mutations in TTR affect the course of TTR amyloidoses, thus strengthening the amyloid hypothesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11752419+11752443" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Afro-Caribbean patients with cardiac amyloidosis, aged 63 and 74 years, respectively, <a href="#129" class="mim-tip-reference" title="Lachmann, H. J., Booth, D. R., Booth, S. E., Bybee, A., Gilbertson, J. A., Gillmore, J. D., Pepys, M. B., Hawkins, P. N. <strong>Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.</strong> New Eng. J. Med. 346: 1786-1791, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12050338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12050338</a>] [<a href="https://doi.org/10.1056/NEJMoa013354" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12050338">Lachmann et al. (2002)</a> identified heterozygosity for the V122I mutation in the TTR gene. Cardiomyopathy was the predominant clinical feature in both patients, and 1 of them also displayed neuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12050338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>To assess the effect of the V122I variant on long-term morbidity and mortality, <a href="#173" class="mim-tip-reference" title="Quarta, C. C., Buxbaum, J. N., Shah, A. M., Falk, R. H., Claggett, B., Kitzman, D. W., Mosley, T. H., Butler, K. R., Bowerwinkle, E., Solomon, S. D. <strong>The amyloidogenic V122I transthyretin variant in elderly black Americans.</strong> New Eng. J. Med. 372: 21-29, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25551524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25551524</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25551524[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1056/NEJMoa1404852" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25551524">Quarta et al. (2015)</a> genotyped 3,856 black participants in the Atherosclerosis Risk in Communities study and assessed cardiac structure and function as well as features suggestive of cardiac amyloidosis in participants older than 65 years of age. The authors identified carrier status for the V122I variant in 124 participants (3%). After 21.5 years of follow-up, <a href="#173" class="mim-tip-reference" title="Quarta, C. C., Buxbaum, J. N., Shah, A. M., Falk, R. H., Claggett, B., Kitzman, D. W., Mosley, T. H., Butler, K. R., Bowerwinkle, E., Solomon, S. D. <strong>The amyloidogenic V122I transthyretin variant in elderly black Americans.</strong> New Eng. J. Med. 372: 21-29, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25551524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25551524</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25551524[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1056/NEJMoa1404852" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25551524">Quarta et al. (2015)</a> did not detect a significant difference in mortality between carriers (41 deaths, 33%) and noncarriers (1,382 deaths, 37%; age- and sex-stratified hazard ratio among carriers, 0.99; 95% confidence interval, 0.73-1.36; p = 0.97). The TTR variant was associated with an increased risk of incident heart failure (age- and sex-stratified hazard ratio, 1.47; 95% confidence interval, 1.03-2.10; p = 0.04). On echocardiography at visit 5, carriers had worse systolic and diastolic function, as well as a higher level of N-terminal pro-brain natriuretic peptide, than noncarriers, although carriers had a low prevalence of overt manifestations of amyloid cardiomyopathy. <a href="#173" class="mim-tip-reference" title="Quarta, C. C., Buxbaum, J. N., Shah, A. M., Falk, R. H., Claggett, B., Kitzman, D. W., Mosley, T. H., Butler, K. R., Bowerwinkle, E., Solomon, S. D. <strong>The amyloidogenic V122I transthyretin variant in elderly black Americans.</strong> New Eng. J. Med. 372: 21-29, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25551524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25551524</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25551524[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1056/NEJMoa1404852" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25551524">Quarta et al. (2015)</a> did not detect a significant difference in mortality between V122I TTR allele carriers and noncarriers, a finding that contrasted with prior observations; however, the risk of heart failure was increased among carriers. The prevalence of overt cardiac abnormalities among V122I TTR carriers was low. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25551524" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#35" class="mim-tip-reference" title="Buxbaum, J. N., Ruberg, F. L. <strong>Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans.</strong> Genet. Med. 19: 733-742, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28102864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28102864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28102864[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/gim.2016.200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28102864">Buxbaum and Ruberg (2017)</a> reviewed the TTR V122I allele. The frequency of this amyloidogenic allele is 0.0173, and it is carried by 3.5% of community-dwelling African Americans. Genotyping across Africa indicated that the origin of the allele is in the West African countries that were the major source of the slave trade to North America. Genotyping of tissues from 112 consecutive autopsies of African Americans age 65 or over identified 4 samples (3.9%) positive for the V122I allele; heart tissues from all 4 carriers showed some degree of cardiac amyloid deposition. However, the clinical penetrance varied, resulting in substantial heart disease in some carriers and few symptoms in others. The allele has been found in 10% of African Americans older than age 65 with severe congestive heart failure. The authors reported potential forms of therapy in clinical trials and suggested testing for this variant in older African Americans with heart disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28102864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918074 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918074;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918074?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014369 OR RCV000152541 OR RCV000621211 OR RCV000770556 OR RCV000852746 OR RCV000857889 OR RCV001173306 OR RCV001256816" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014369, RCV000152541, RCV000621211, RCV000770556, RCV000852746, RCV000857889, RCV001173306, RCV001256816" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014369...</a>
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<p>In a family of Italian-Sicilian origin with amyloidosis polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>) described by <a href="#217" class="mim-tip-reference" title="Skare, J. C., Saraiva, M. J. M., Alves, I. L., Skare, I. B., Milunsky, A., Cohen, A. S., Skinner, M. <strong>A new mutation causing familial amyloidotic polyneuropathy.</strong> Biochem. Biophys. Res. Commun. 164: 1240-1246, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2590199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2590199</a>] [<a href="https://doi.org/10.1016/0006-291x(89)91802-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2590199">Skare et al. (1989)</a>, the proband, a 39-year-old woman, developed sensory neuropathy at age 34 and vitreous opacities that required vitrectomy in the left eye. Her mother, a maternal uncle, and a maternal aunt died of amyloidosis manifested by peripheral neuropathy, vitreous opacities, and cardiomyopathy. The vitreous amyloid had the immunohistologic characteristics of transthyretin. Previously identified mutations in transthyretin were excluded. A new 7.0-kb SphI restriction site in exon 3 was found. The mutation that could produce the restriction site would result in a substitution for glu89, his90, or ala91. <a href="#216" class="mim-tip-reference" title="Skare, J. C., Milunsky, J. M., Milunsky, A., Skare, I. B., Cohen, A. S., Skinner, M. <strong>A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90.</strong> Clin. Genet. 39: 6-12, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1997217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1997217</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1991.tb02979.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1997217">Skare et al. (1991)</a> later demonstrated that the transthyretin variant in this patient had lost an SphI cleavage site within exon 3 and acquired a BsmI cleavage site not present in normal transthyretin. This led to the conclusion that histidine-90 was replaced by asparagine, and amino acid analysis supported the conclusion. <a href="#190" class="mim-tip-reference" title="Saraiva, M. J. M., Almeida, M. R., Alves, I. L., Moreira, P., Gawinowicz, M. A., Costa, P. P., Rauh, S., Banhzoff, A., Altland, K. <strong>Molecular analyses of an acidic transthyretin Asn 90 variant.</strong> Am. J. Hum. Genet. 48: 1004-1008, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1850190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1850190</a>]" pmid="1850190">Saraiva et al. (1991)</a> found the same variant, H90N, as a seemingly nonpathogenic variant with a low pI in 2 of 4,000 German subjects and in 4 of 1,200 Portuguese subjects. In all carriers of the asn90 variant, no association with traits characteristic of FAP were found. One individual from an FAP kindred was simultaneously a carrier of the met30 substitution and the acidic variant. One individual from the randomly selected Portuguese sample had only the acidic monomer, i.e., was homozygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2590199+1997217+1850190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In studies that attempted to find the reason for the amyloidogenic effects of the mutation in some families, <a href="#4" class="mim-tip-reference" title="Alves, I. L., Almeida, M. R., Skare, J., Skinner, M., Kurose, K., Sakaki, Y., Costa, P. P., Saraiva, M. J. M. <strong>Amyloidogenic and non-amyloidogenic transthyretin Asn 90 variants.</strong> Clin. Genet. 42: 27-30, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1355416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1355416</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03131.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1355416">Alves et al. (1992)</a> demonstrated differences in the mobility pattern on isoelectric focusing between the nonpathogenic and pathogenic variants. However, DNA sequencing revealed no additional mutation distinguishing the 2. <a href="#4" class="mim-tip-reference" title="Alves, I. L., Almeida, M. R., Skare, J., Skinner, M., Kurose, K., Sakaki, Y., Costa, P. P., Saraiva, M. J. M. <strong>Amyloidogenic and non-amyloidogenic transthyretin Asn 90 variants.</strong> Clin. Genet. 42: 27-30, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1355416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1355416</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03131.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1355416">Alves et al. (1992)</a> suggested that 'an as yet unknown post-translational modification may have occurred in the FAP-associated Asn 90 variant, turning it into an amyloidogenic molecule.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1355416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918075 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918075;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014361 OR RCV001582481 OR RCV002354160" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014361, RCV001582481, RCV002354160" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014361...</a>
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<p><a href="#242" class="mim-tip-reference" title="Ueno, S., Uemichi, T., Yorifuji, S., Tarui, S. <strong>A novel variant of transthyretin (tyr-114 to cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases.</strong> Biochem. Biophys. Res. Commun. 169: 143-147, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2161654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2161654</a>] [<a href="https://doi.org/10.1016/0006-291x(90)91445-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2161654">Ueno et al. (1990)</a> studied a kindred with familial amyloid polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>) from the Osaka area of Japan. Although they stated that the patients in whom they performed molecular studies were sibs, they were in fact cousins. Symptoms of decreased libido, fecal incontinence, pitting pretibial edema and numbness in the legs began at about age 30. Vitreous opacities were described. Sudden death occurred in the late thirties in both patients. The family was traced back 4 generations to 1835 at which time the family was in the Nagasaki area of Japan. In exon 4 a single base change of A to G was found at position 6752, which resulted in substitution of cysteine (TGC) for tyrosine (TAC) at position 114 of the 127-residue TTR molecule (Y114C). Both subjects were heterozygous. <a href="#240" class="mim-tip-reference" title="Ueno, S., Fujimura, H., Yorifuji, S., Nakamura, Y., Takahashi, M., Tarui, S., Yanagihara, T. <strong>Familial amyloid polyneuropathy associated with the transthyretin cys114 gene in a Japanese kindred.</strong> Brain 115: 1275-1289, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1330202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1330202</a>] [<a href="https://doi.org/10.1093/brain/115.5.1275" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1330202">Ueno et al. (1992)</a> provided further information; by 1992, 12 of 36 known members of 6 generations were affected. Autonomic disturbances, especially postural hypotension, were the most debilitating symptoms. The duration from onset to death was under 10 years. Heart failure caused by heavy amyloid deposits was the common cause of sudden death. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1330202+2161654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#66" class="mim-tip-reference" title="Haagsma, E. B., Post, J. G., De Jager, A. E. J., Nikkels, P. G. J., Hamel, B. C. J., Hazenberg, B. P. C. <strong>A Dutch kindred with familial amyloidotic polyneuropathy associated with the transthyretin cys114 mutant.</strong> Amyloid 4: 112-117, 1997."None>Haagsma et al. (1997)</a> described a Dutch kindred with the Y114C transthyretin mutation (called cys114 by them). The variant had previously been identified only in Japan.</p>
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<strong>.0012 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs11541796 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs11541796;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs11541796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs11541796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014370" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014370" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014370</a>
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<p>In a Japanese kindred with amyloid polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>), <a href="#241" class="mim-tip-reference" title="Ueno, S., Uemichi, T., Takahashi, N., Soga, F., Yorifuji, S., Tarui, S. <strong>Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (glu42-to-gly) and transthyretin (ser50-to-arg).</strong> Biochem. Biophys. Res. Commun. 169: 1117-1121, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2363717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2363717</a>] [<a href="https://doi.org/10.1016/0006-291x(90)92011-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2363717">Ueno et al. (1990)</a> found a single base change from A to G at position 1135 in exon 2 of the TTR gene, resulting in replacement of glutamate by glycine at position 42 (E42G). <a href="#238" class="mim-tip-reference" title="Uemichi, T., Ueno, S., Fujimura, H., Umekage, T., Yorifuji, S., Matsuzawa, Y., Tarui, S. <strong>Familial amyloid polyneuropathy related to transthyretin gly42 in a Japanese family.</strong> Muscle Nerve 15: 904-911, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1353861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1353861</a>] [<a href="https://doi.org/10.1002/mus.880150807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1353861">Uemichi et al. (1992)</a> provided further details. Six persons had polyneuropathy. The mean age of onset was 38 for 4 males and 54 for 2 females. Amyloid cardiomyopathy was present in 3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2363717+1353861" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0013 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918076 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918076;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014371 OR RCV002415415 OR RCV003480030" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014371, RCV002415415, RCV003480030" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014371...</a>
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<p>In a Japanese kindred with autosomal dominant amyloid polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>), <a href="#241" class="mim-tip-reference" title="Ueno, S., Uemichi, T., Takahashi, N., Soga, F., Yorifuji, S., Tarui, S. <strong>Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (glu42-to-gly) and transthyretin (ser50-to-arg).</strong> Biochem. Biophys. Res. Commun. 169: 1117-1121, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2363717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2363717</a>] [<a href="https://doi.org/10.1016/0006-291x(90)92011-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2363717">Ueno et al. (1990)</a> found a T-to-G transversion at position 3252 in exon 3 of the TTR gene resulting in replacement of serine by arginine at position 50 (S50R). The mutant was discovered by randomly sequencing recombinant clones containing the entire length of each of the 4 exons selectively amplified by PCR. The base change produced a change in restriction site RFLPs, and allele-specific oligonucleotide hybridization confirmed the base change. <a href="#230" class="mim-tip-reference" title="Takahashi, N., Ueno, S., Uemichi, T., Fujimura, H., Yorifuji, S., Tarui, S. <strong>Amyloid polyneuropathy with transthyretin arg50 in a Japanese case from Osaka.</strong> J. Neurol. Sci. 112: 58-64, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1335038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1335038</a>] [<a href="https://doi.org/10.1016/0022-510x(92)90132-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1335038">Takahashi et al. (1992)</a> described the same mutation in a member of another family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1335038+2363717" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs79977247 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs79977247;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs79977247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs79977247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014372" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014372" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014372</a>
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<p>Jones et al. (<a href="#114" class="mim-tip-reference" title="Jones, L. A., Skare, J., Harding, J., Cohen, A. S., Skinner, M. <strong>A new substitution at position 30 in the transthyretin (TTR) protein associated with familial amyloid polyneuropathy (FAP). (Abstract)</strong> Arthritis Rheum. 33 (suppl.): S80, 1990."None>1990</a>, <a href="#112" class="mim-tip-reference" title="Jones, L. A., Skare, J. C., Cohen, A. S., Harding, J. A., Milunsky, A., Skinner, M. <strong>Familial amyloid polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent.</strong> Clin. Genet. 41: 70-73, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1544214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1544214</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03635.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1544214">1992</a>) showed that a dominantly inherited amyloid polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>) in a family of German descent was due to a cytosine for thymine substitution in the second base of codon 30, resulting in substitution of alanine for valine (V30A). This mutation created a novel CfoI restriction endonuclease site in exon 2. This represented a hydrophilic substitution at a hydrophobic core position. The change is in the same codon as the val30-to-met mutation found in the Andrade or Portuguese type (<a href="#0001">176300.0001</a>); see also the val30-to-leu mutation (<a href="#0024">176300.0024</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1544214" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267607159 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607159;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs267607159?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267607159" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267607159" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000036375 OR RCV000548533 OR RCV000619844 OR RCV000755423 OR RCV002290958 OR RCV002482974 OR RCV003149627" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000036375, RCV000548533, RCV000619844, RCV000755423, RCV002290958, RCV002482974, RCV003149627" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000036375...</a>
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<p>In a family with euthyroid hyperthyroxinemia (DTTRH; <a href="/entry/145680">145680</a>) in 8 persons spanning 3 generations (<a href="#142" class="mim-tip-reference" title="Moses, A. C., Lawlor, J., Haddow, J., Jackson, I. M. D. <strong>Familial euthyroid hyperthyroxinemia resulting from increased thyroxine binding to thyroxine-binding prealbumin.</strong> New Eng. J. Med. 306: 966-969, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6801514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6801514</a>] [<a href="https://doi.org/10.1056/NEJM198204223061605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6801514">Moses et al., 1982</a>), <a href="#143" class="mim-tip-reference" title="Moses, A. C., Rosen, H. N., Moller, D. E., Tsuzaki, S., Haddow, J. E., Lawlor, J., Liepnieks, J. J., Nichols, W. C., Benson, M. D. <strong>A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia.</strong> J. Clin. Invest. 86: 2025-2033, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1979335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1979335</a>] [<a href="https://doi.org/10.1172/JCI114938" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1979335">Moses et al. (1990)</a> found a change in 50% of TTR clones in which exon 4 had a substitution of adenine (ACC) for guanine (GCC) in codon 109, resulting in the replacement of threonine for alanine. The mutation was confirmed by amino acid sequencing of tryptic peptides derived from purified plasma TTR. The single-nucleotide substitution abolished 1 of 2 Fnu4HI restriction sites in exon 4. PCR amplification of exon 4 of TTR and restriction digestion with Fnu4HI confirmed that 5 affected family members with increased binding of radiolabeled T4 to TTR were heterozygous for the threonine-109 substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6801514+1979335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#178" class="mim-tip-reference" title="Refetoff, S., Marinov, V. S. Z., Tunca, H., Byrne, M. M., Sunthornthepvarakul, T., Weiss, R. E. <strong>A new family with hyperthyroxinemia caused by transthyretin val-109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study.</strong> J. Clin. Endocr. Metab. 81: 3335-3340, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8784093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8784093</a>] [<a href="https://doi.org/10.1210/jcem.81.9.8784093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8784093">Refetoff et al. (1996)</a> noted that of 3 TTR variants with increased affinity for T4, ala109 to thr, thr119 to met (<a href="#0018">176300.0018</a>) and gly6 to ser (<a href="#0036">176300.0036</a>), only ala109 to thr has a high enough affinity for T4 to produce consistent hyperthyroxinemia in heterozygotes. Because the GCC-to-ACC mutation causing ala109 to thr destroys a BsoFI site in exon 4 of the TTR gene, use of this enzyme was suggested as a way to screen for ala109-to-thr substitutions in subjects with euthyroid hyperthyroxinemia. Another mutation at the same codon, ala109 to val (<a href="#0038">176300.0038</a>), has an affinity for T4 which approaches that of TTR-thr109 and is sufficient to produce consistent hyperthyroxinemia in heterozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8784093" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918077 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918077;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a family of Greek descent with familial amyloid polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>), <a href="#113" class="mim-tip-reference" title="Jones, L. A., Skare, J. C., Harding, J. A., Cohen, A. S., Milunsky, A., Skinner, M. <strong>Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy.</strong> Am. J. Hum. Genet. 48: 979-982, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1850191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1850191</a>]" pmid="1850191">Jones et al. (1991)</a> found a CCT-to-GCT change in codon 36 of the TTR gene resulting in a substitution of proline for alanine (A36P). <a href="#106" class="mim-tip-reference" title="Jacobson, D. R., Rosenthal, C. J., Buxbaum, J. N. <strong>Transthyretin pro36 associated with familial amyloidotic polyneuropathy in an Ashkenazic Jewish kindred.</strong> Hum. Genet. 90: 158-160, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1358785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1358785</a>] [<a href="https://doi.org/10.1007/BF00210764" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1358785">Jacobson et al. (1992)</a> found the same mutation in an Ashkenazi Jewish kindred with FAP. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1850191+1358785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The substitution of methionine for threonine at codon 119 (T119M) influences the clinical outcome of met30 carriers with amyloidosis (<a href="#0001">176300.0001</a>), with met119 exerting a protective effect.</p><p>In a North American kindred of Swedish ancestry, <a href="#72" class="mim-tip-reference" title="Harrison, H. H., Gordon, E. D., Nichols, W. C., Benson, M. D. <strong>Biochemical and clinical characterization of prealbumin-Chicago: an apparently benign variant of serum prealbumin (transthyretin) discovered with high-resolution two-dimensional electrophoresis.</strong> Am. J. Med. Genet. 39: 442-452, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1877623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1877623</a>] [<a href="https://doi.org/10.1002/ajmg.1320390415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1877623">Harrison et al. (1991)</a> identified an apparently benign, electrophoretic variant of prealbumin, which they designated prealbumin Chicago. They identified a C-to-T mutation in exon 4 of the TTR gene which resulted in replacement of threonine by methionine at position 119 of the mature molecule (T119M). The variant was found incidentally in a girl with classic alpha-1-antitrypsin (AAT) deficiency (<a href="/entry/107400">107400</a>) and in her father during AAT phenotyping by an electrophoretic method. Five heterozygotes in 3 generations were studied. There was no evidence of amyloidosis in the family. Mean values of serum prealbumin and retinol binding protein levels were higher in the carriers than in normal relatives, but the difference was not statistically significant. The substitution at position 119 occurred in a CpG dinucleotide that may be a point mutation hotspot, as has been postulated for the methionine-30 and isoleucine-122 TTR mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1877623" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#89" class="mim-tip-reference" title="Ii, S., Sobell, J. L., Sommer, S. S. <strong>From molecular variant to disease: initial steps in evaluating the association of transthyretin M-119 with disease.</strong> Am. J. Hum. Genet. 50: 29-41, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1729893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1729893</a>]" pmid="1729893">Ii et al. (1992)</a> also found this variant. Since thr119 is invariant in 5 mammalian species, it is presumably important to normal protein function. To determine the frequency of the variant, <a href="#89" class="mim-tip-reference" title="Ii, S., Sobell, J. L., Sommer, S. S. <strong>From molecular variant to disease: initial steps in evaluating the association of transthyretin M-119 with disease.</strong> Am. J. Hum. Genet. 50: 29-41, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1729893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1729893</a>]" pmid="1729893">Ii et al. (1992)</a> screened persons of northern- and western-European descent by means of a PASA (PCR amplification of specific alleles) assay. In all, they found 5 instances of the met119 allele in 1,666 genes, to give a frequency of 1/333. Clinical records, initial clinical interviews, and family history of these patients suggested a high frequency of early-onset venous insufficiency and perhaps mild renal dysfunction. Haplotype analysis suggested that the variant derived from a common ancestor. <a href="#89" class="mim-tip-reference" title="Ii, S., Sobell, J. L., Sommer, S. S. <strong>From molecular variant to disease: initial steps in evaluating the association of transthyretin M-119 with disease.</strong> Am. J. Hum. Genet. 50: 29-41, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1729893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1729893</a>]" pmid="1729893">Ii et al. (1992)</a> commented that although traditionally clinical research has sought to determine the molecular basis of clinical signs and symptoms, increasingly the process will be reversed, as structural protein variants are discovered. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1729893" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#209" class="mim-tip-reference" title="Scrimshaw, B. J., Fellowes, A. P., Palmer, B. N., Croxson, M. S., Stockigt, J. R., George, P. M. <strong>A novel variant of transthyretin (prealbumin), thr119-to-met, associated with increased thyroxine binding.</strong> Thyroid 2: 21-26, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1356051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1356051</a>] [<a href="https://doi.org/10.1089/thy.1992.2.21" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1356051">Scrimshaw et al. (1992)</a> identified the same mutation, ACG-to-ATG at position 119, in 4 unrelated persons with euthyroid hyperthyroxinemia (<a href="/entry/145680">145680</a>). The mutation created a new NcoI restriction endonuclease cleavage site which permitted its detection by a rapid and simple assay based on PCR. <a href="#209" class="mim-tip-reference" title="Scrimshaw, B. J., Fellowes, A. P., Palmer, B. N., Croxson, M. S., Stockigt, J. R., George, P. M. <strong>A novel variant of transthyretin (prealbumin), thr119-to-met, associated with increased thyroxine binding.</strong> Thyroid 2: 21-26, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1356051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1356051</a>] [<a href="https://doi.org/10.1089/thy.1992.2.21" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1356051">Scrimshaw et al. (1992)</a> concluded that although the thr119-to-met mutation was associated with increased binding of thyroxine, the hyperthyroxinemia in the patients who brought the variant to their attention had some other explanation because many persons with the variant had normal serum thyroxine concentrations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1356051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Alves, I. L., Divino, C. M., Schussler, G. C., Altland, K., Almeida, M. R., Palha, J. A., Coelho, T., Costa, P. P., Saraiva, M. J. M. <strong>Thyroxine binding in a TTR met 119 kindred.</strong> J. Clin. Endocr. Metab. 77: 484-488, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8102146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8102146</a>] [<a href="https://doi.org/10.1210/jcem.77.2.8102146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8102146">Alves et al. (1993)</a> found another family with this mutation during a screening program for TTR mutations in the Portuguese FAP population. Cyanogen bromide peptide mapping and DNA RFLP analyses showed that the proband was a compound heterozygote for 2 TTR variants: his90-to-asn (<a href="#0010">176300.0010</a>) and thr119-to-met, inherited from the father and mother, respectively. Neither the compound heterozygote nor his parents had symptoms of FAP. <a href="#5" class="mim-tip-reference" title="Alves, I. L., Divino, C. M., Schussler, G. C., Altland, K., Almeida, M. R., Palha, J. A., Coelho, T., Costa, P. P., Saraiva, M. J. M. <strong>Thyroxine binding in a TTR met 119 kindred.</strong> J. Clin. Endocr. Metab. 77: 484-488, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8102146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8102146</a>] [<a href="https://doi.org/10.1210/jcem.77.2.8102146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8102146">Alves et al. (1993)</a> confirmed that TTR binding of T4 was increased in association with the met119 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8102146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Coelho, T., Chorao, R., Sousa, A., Alves, I. L., Torres, M. F., Saraiva, M. J. M. <strong>Compound heterozygotes of transthyretin Met 30 and transthyretin Met 119 are protected from the devastating effects of familial amyloid polyneuropathy. (Abstract)</strong> Neuromusc. Disord. 6 (suppl. 1): S20 only, 1996."None>Coelho et al. (1996)</a> found that compound heterozygotes of transthyretin met30 and met119 were protected from the devastating effects of familial amyloid polyneuropathy.</p><p>The V30M mutation (<a href="#0001">176300.0001</a>) is a prevalent cause of familial amyloid polyneuropathy in heterozygotes, whereas the thr119-to-met mutation (T119M) on the second TTR allele protects V30M carriers from disease. <a href="#68" class="mim-tip-reference" title="Hammarstrom, P., Schneider, F., Kelly, J. W. <strong>Trans-suppression of misfolding in an amyloid disease.</strong> Science 293: 2459-2462, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11577236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11577236</a>] [<a href="https://doi.org/10.1126/science.1062245" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11577236">Hammarstrom et al. (2001)</a> demonstrated that the incorporation of 1 or more T119M TTR subunits into a predominantly V30M tetramer strongly stabilized the mixed tetramer against dissociation, which is required for amyloid formation. <a href="#68" class="mim-tip-reference" title="Hammarstrom, P., Schneider, F., Kelly, J. W. <strong>Trans-suppression of misfolding in an amyloid disease.</strong> Science 293: 2459-2462, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11577236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11577236</a>] [<a href="https://doi.org/10.1126/science.1062245" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11577236">Hammarstrom et al. (2001)</a> concluded that their findings provided a molecular explanation for intragenic trans-suppression of amyloidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11577236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0019 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918069 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918069;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014377" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014377" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014377</a>
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<p>By single-strand conformation polymorphism (SSCP), <a href="#186" class="mim-tip-reference" title="Saeki, Y., Ueno, S., Yorifuji, S., Sugiyama, Y., Ide, Y., Matsuzawa, Y. <strong>New mutant gene (transthyretin arg-58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis.</strong> Biochem. Biophys. Res. Commun. 180: 380-385, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1656975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1656975</a>] [<a href="https://doi.org/10.1016/s0006-291x(05)81304-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1656975">Saeki et al. (1991)</a> detected a T-to-G base change in exon 3 resulting in substitution of arginine for leucine-58 (L58R) in a 39-year-old Japanese man with amyloid polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>). The patient had a 3-year history of weakness and dysesthesia in the hands, muscular atrophy in the distal part of all limbs, orthostatic hypotension, and impotence. The mutation was also found in his 62-year-old mother, who had had weakness and dysesthesia in the hands for 15 years and had surgical decompression of the carpal tunnels without relief. She had vitreous opacities since the age of 53 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1656975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0020 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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TTR, GLY47ARG, G-C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906523 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906523;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906523" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906523" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014378" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014378" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014378</a>
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<p>In a Japanese patient with familial amyloid polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>), <a href="#148" class="mim-tip-reference" title="Murakami, T., Maeda, S., Yi, S., Ikegawa, S., Kawashima, E., Onodera, S., Shimada, K., Araki, S. <strong>A novel transthyretin mutation associated with familial amyloidotic polyneuropathy.</strong> Biochem. Biophys. Res. Commun. 182: 520-526, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1734866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1734866</a>] [<a href="https://doi.org/10.1016/0006-291x(92)91763-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1734866">Murakami et al. (1992)</a> demonstrated a de novo mutation in the TTR gene, a G-to-C substitution resulting in replacement of glycine by arginine at position 47 (G47R). The patient had onset of weight loss and diarrhea at the age of 29 years and orthostatic hypotension at the age of 32 at which time sensory loss in the legs and hypohidrosis were also present. There were no vitreous opacities. He died from emaciation at the age of 38. Neither his parents nor 2 brothers had symptoms of FAP and neither parent showed the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1734866" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#56" class="mim-tip-reference" title="Ferlini, A., Obici, L., Manzati, E., Biadi, O., Tarantino, E., Conigli, P., Merlini, G., D'Alessandro, M., Mazzaferro, V., Tassinari, C. A., Salvi, F. <strong>Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel 'hot spot' in codon 47.</strong> Clin. Genet. 57: 284-290, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10845569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10845569</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2000.570407.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10845569">Ferlini et al. (2000)</a> described the same mutation in an Italian family. The proband presented at the age of 16 years with a typical mixed polyneuropathy, confirmed by electromyography. Muscle biopsy showed amyloid deposits by Congo Red staining. She died of heart failure at the age of 33 years during a liver transplant. A sister was similarly affected. The father presented at the age of 39 years with polyneuropathy and autonomic dysfunction, was bedridden by the age of 41 years, and died at age 42 from cardiac failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10845569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>See <a href="#0043">176300.0043</a> for the gly47-to-arg mutation of the TTR gene due not to a G-to-C substitution, but rather to a G-to-A substitution. See <a href="#0035">176300.0035</a> for the gly47-to-ala mutation, involving the same codon.</p>
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<strong>.0021 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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TTR, ALA45THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894664 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894664;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918078 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918078;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014379" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014379" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014379</a>
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<p>In a 58-year-old male of Irish and Italian descent with amyloidosis (AMYLD1; <a href="/entry/105210">105210</a>) who first presented with an enlarged heart at age 50, <a href="#191" class="mim-tip-reference" title="Saraiva, M. J. M., Almeida, M. R., Sherman, W., Gawinowicz, M., Costa, P., Costa, P. P., Goodman, D. S. <strong>A new transthyretin mutation associated with amyloid cardiomyopathy.</strong> Am. J. Hum. Genet. 50: 1027-1030, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1570831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1570831</a>]" pmid="1570831">Saraiva et al. (1992)</a> demonstrated a G-to-A transition in codon 45 of the TTR gene, predicted to result in substitution of threonine for alanine (A45T). The patient began to show persistent diarrhea and genitourinary disturbances at the age of 53 years. Heart failure had its onset at age 54 years. Although there were no ocular symptoms or peripheral neuropathy, biopsies of skin, rectal fat, and bladder all showed the presence of amyloid. His mother was reported to have died of amyloidosis, and one sister, aged 54 years, had pedal edema. A maternal aunt also died of amyloid heart disease, confirmed at autopsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1570831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0022 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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TTR, LEU55PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918079 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918079;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918079" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918079" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014380" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014380" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014380</a>
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<p>In the West Virginia kindred of Dutch and German descent with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement (AMYLD1; <a href="/entry/105210">105210</a>) reported by <a href="#215" class="mim-tip-reference" title="Shulman, L. E., Bartter, F. C. <strong>Familial primary amyloidosis. (Abstract)</strong> Bull. Johns Hopkins Hosp. 98: 238-239, 1956."None>Shulman and Bartter (1956)</a>, <a href="#119" class="mim-tip-reference" title="Kaufman, H. E. <strong>Primary familial amyloidosis.</strong> AMA Arch. Ophthalmol. 60: 1036-1043, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13593935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13593935</a>] [<a href="https://doi.org/10.1001/archopht.1958.00940081056009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13593935">Kaufman (1958)</a>, <a href="#259" class="mim-tip-reference" title="Wong, V. G., McFarlin, D. E. <strong>Primary familial amyloidosis.</strong> Arch. Ophthal. 78: 208-213, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4952599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4952599</a>] [<a href="https://doi.org/10.1001/archopht.1967.00980030210015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4952599">Wong and McFarlin (1967)</a>, and <a href="#43" class="mim-tip-reference" title="Dalakas, M. C., Engel, W. K. <strong>Amyloid in hereditary amyloid polyneuropathy is related to prealbumin.</strong> Arch. Neurol. 38: 420-422, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7018469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7018469</a>] [<a href="https://doi.org/10.1001/archneur.1981.00510070054008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7018469">Dalakas and Engel (1981)</a>, <a href="#101" class="mim-tip-reference" title="Jacobson, D. R., McFarlin, D. E., Kane, I., Buxbaum, J. N. <strong>Transthyretin pro-55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.</strong> Hum. Genet. 89: 353-356, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1351039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1351039</a>] [<a href="https://doi.org/10.1007/BF00220559" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1351039">Jacobson et al. (1992)</a> found a T-to-C transition at position 2 of codon 55 of the TTR gene, corresponding to a leu-to-pro substitution (L55P). The abnormality was initially detected by a single-strand conformation polymorphism analysis. <a href="#101" class="mim-tip-reference" title="Jacobson, D. R., McFarlin, D. E., Kane, I., Buxbaum, J. N. <strong>Transthyretin pro-55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.</strong> Hum. Genet. 89: 353-356, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1351039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1351039</a>] [<a href="https://doi.org/10.1007/BF00220559" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1351039">Jacobson et al. (1992)</a> tabulated the clinical manifestations in 7 cases, of which 4 had autopsy. Onset was as early as age 14, with death at 19; the oldest survivor was 38 at death. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7018469+1351039+4952599+13593935" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#137" class="mim-tip-reference" title="McCutchen, S. L., Colon, W., Kelly, J. W. <strong>Transthyretin mutation leu55-to-pro significantly alters tetramer stability and increases amyloidogenicity.</strong> Biochemistry 32: 12119-12127, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8218290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8218290</a>] [<a href="https://doi.org/10.1021/bi00096a024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8218290">McCutchen et al. (1993)</a> compared the amyloidogenicity of leu55-to-pro TTR to wildtype transthyretin. The overlap-extension PCR method was used to introduce the leu55-to-pro mutation into the TTR DNA sequence. The variant was expressed with a leader sequence to ensure secretion into the periplasmic space of E. coli. They found that the mutant TTR tetramer was significantly less stable than the wildtype. Characteristic amyloid fibrils were produced from leu55-to-pro TTR in vitro. Several lines of evidence had suggested that lysosomes may be the source of amyloid fibril formation in vivo. <a href="#137" class="mim-tip-reference" title="McCutchen, S. L., Colon, W., Kelly, J. W. <strong>Transthyretin mutation leu55-to-pro significantly alters tetramer stability and increases amyloidogenicity.</strong> Biochemistry 32: 12119-12127, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8218290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8218290</a>] [<a href="https://doi.org/10.1021/bi00096a024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8218290">McCutchen et al. (1993)</a> observed formation of amyloid fibrils from leu55-to-pro TTR at the normal operating pH of a lysosome. They proposed that their observations explained the unusual pathogenicity of this TTR mutant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8218290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The same mutation was found by <a href="#260" class="mim-tip-reference" title="Yamamoto, K., Hsu, S.-P., Yoshida, K., Ikeda, S-I., Nakazato, M., Shiomi, K., Cheng, S.-Y., Furihata, K., Ueno, I., Yanagisawa, N. <strong>Familial amyloid polyneuropathy in Taiwan: identification of transthyretin variant (Leu55 to Pro).</strong> Muscle Nerve 17: 637-641, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7910950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7910950</a>] [<a href="https://doi.org/10.1002/mus.880170611" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7910950">Yamamoto et al. (1994)</a> in a Taiwanese FAP family with clinical manifestations very similar to those in the West Virginian family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7910950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0023 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918080 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918080;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918080?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014381" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014381" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014381</a>
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<p>In a Japanese patient with familial cardiac amyloidosis (AMYLD1; <a href="/entry/105210">105210</a>), <a href="#159" class="mim-tip-reference" title="Nishi, H., Kimura, A., Harada, H., Hayashi, Y., Nakamura, M., Sasazuki, T. <strong>Novel variant transthyretin gene (ser50-to-ile) in familial cardiac amyloidosis.</strong> Biochem. Biophys. Res. Commun. 187: 460-466, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1520336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1520336</a>] [<a href="https://doi.org/10.1016/s0006-291x(05)81516-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1520336">Nishi et al. (1992)</a> demonstrated a ser50-to-ile mutation in the TTR gene resulting from a G-to-T transversion. The patient had 2 sibs out of 8 who had died with cardiac amyloidosis. Electrocardiogram showed first-degree atrioventricular block and complete left bundle branch block. Two-dimensional echocardiography showed symmetrical left ventricular hypertrophy with preserved systolic function. The thickened cardiac walls demonstrated a granular sparkling texture. Amyloid deposits were found in biopsy specimens from the rectum and skin. None of the 3 patients showed evident polyneuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1520336" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Japanese patient with amyloid polyneuropathy, <a href="#185" class="mim-tip-reference" title="Saeki, Y., Ueno, S., Takahashi, N., Soga, F., Yanagihara, T. <strong>A novel mutant (transthyretin ile-50) related to amyloid polyneuropathy: single-strand conformation polymorphism as a new genetic marker.</strong> FEBS Lett. 308: 35-37, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1644201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1644201</a>] [<a href="https://doi.org/10.1016/0014-5793(92)81044-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1644201">Saeki et al. (1992)</a> used SSCP analysis of PCR products to demonstrate mutation in exon 3. Direct sequencing demonstrated a G-to-T transversion resulting in substitution of isoleucine for serine-50. See <a href="#0013">176300.0013</a> for another mutation affecting serine-50 in a Japanese patient. <a href="#185" class="mim-tip-reference" title="Saeki, Y., Ueno, S., Takahashi, N., Soga, F., Yanagihara, T. <strong>A novel mutant (transthyretin ile-50) related to amyloid polyneuropathy: single-strand conformation polymorphism as a new genetic marker.</strong> FEBS Lett. 308: 35-37, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1644201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1644201</a>] [<a href="https://doi.org/10.1016/0014-5793(92)81044-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1644201">Saeki et al. (1992)</a> described their patient as a 56-year-old Japanese woman living in Oita Prefecture who had a 7-year history of sensory disturbance and muscular atrophy in the lower limbs. The autonomic dysfunction, especially orthostatic hypotension, limited her ambulation. Amyloid deposition was proven by sural nerve biopsy, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1644201" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28933979 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28933979;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs28933979?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28933979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28933979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014382 OR RCV001173291 OR RCV002390107" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014382, RCV001173291, RCV002390107" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014382...</a>
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<p>In a Japanese patient with familial amyloid polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>), <a href="#147" class="mim-tip-reference" title="Murakami, T., Atsumi, T., Maeda, S., Tanase, S., Ishikawa, K., Mita, S., Kumamoto, T., Araki, S., Ando, M. <strong>A novel transthyretin mutation at position 30 (leu for val) associated with familial amyloidotic polyneuropathy.</strong> Biochem. Biophys. Res. Commun. 187: 397-403, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1520326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1520326</a>] [<a href="https://doi.org/10.1016/s0006-291x(05)81506-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1520326">Murakami et al. (1992)</a> used single-strand conformation polymorphism analysis and sequence analysis of PCR-amplified exons of TTR to demonstrate a val30-to-leu (V30L) mutation. The mutation created a Cfr13I site. The change is in the same codon as the val30-to-met mutation found in the Andrade or Portuguese type (<a href="#0001">176300.0001</a>); see also the val30-to-ala mutation (<a href="#0014">176300.0014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1520326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The pathogenic significance of the V30L mutation was confirmed by <a href="#244" class="mim-tip-reference" title="Utsugisawa, K., Tohgi, H., Nagane, Y., Yamagata, M., Saito, K., Mihara, M. <strong>Familial amyloid polyneuropathy related to transthyretin mutation val30 to leu in a Japanese family.</strong> Muscle Nerve 21: 1783-1785, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843084</a>] [<a href="https://doi.org/10.1002/(sici)1097-4598(199812)21:12<1783::aid-mus24>3.0.co;2-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843084">Utsugisawa et al. (1998)</a>, who demonstrated the same mutation in 3 members of a Japanese family with type I FAP. The proband was a 46-year-old woman who gradually developed sensory dullness, muscle weakness, and atrophy of the legs and the arms. The pupils were dilated and did not react to light and accommodation, but were hypersensitive to both 0.1% pilocarpine and 0.125% epinephrine. Tendon reflexes were absent or diminished in the extremities. She showed severe hypesthesia in the distal parts of the extremities, but sparing joint sensation. Orthostatic hypotension was demonstrated with no change in pulse rate on assuming the standing position. Her father died at age 53 years, having had similar symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918081 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918081;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Sicilian kindred with amyloid neuropathy and cardiomyopathy (AMYLD1; <a href="/entry/105210">105210</a>), <a href="#2" class="mim-tip-reference" title="Almeida, M. R., Ferlini, A., Forabosco, A., Gawinowicz, M. A., Costa, P. P., Salvi, F., Plasmati, R., Tassinari, C. A., Altland, K., Saraiva, M. J. <strong>Two transthyretin variants (TTR ala-49 and TTR gln-89) in two Sicilian kindreds with hereditary amyloidosis.</strong> Hum. Mutat. 1: 211-215, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1301926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1301926</a>] [<a href="https://doi.org/10.1002/humu.1380010306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1301926">Almeida et al. (1992)</a> identified a mutation in the TTR gene resulting in substitution of alanine for threonine-49 (T49A). The disease started in the fifth decade with the appearance of vitreous opacities which was followed, several years later, by polyneuropathy and cardiomyopathy (<a href="#189" class="mim-tip-reference" title="Salvi, F., Plasmati, R., Michelucci, R., Zonari, P., Ferlini, A., Almeida, M. R., Costa, P. P., Saraiva, M. J. M., Rapezzi, C., Mencucci, R., Tassinari, C. A. <strong>Clinical characterization of a new TTR variant in an Italian family: TTR ala49. In: Natvig, J. B.; Forre, O.; Husby, G.; Husebekk, A.; Skogen, B.; Sletten, K.; Westermark, P. (eds.): Amyloid and Amyloidosis.</strong> Dordrecht: Kluwer Academic Publ. (pub.) 1991. Pp. 603-606."None>Salvi et al., 1991</a>). <a href="#19" class="mim-tip-reference" title="Benson, M. D., II, Julien, J., Liepnieks, J., Zeldenrust, S., Benson, M. D. <strong>A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family.</strong> J. Med. Genet. 30: 117-119, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8095301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8095301</a>] [<a href="https://doi.org/10.1136/jmg.30.2.117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8095301">Benson et al. (1993)</a> found the thr49-to-ala mutation in a French family with amyloid polyneuropathy described by <a href="#115" class="mim-tip-reference" title="Julien, J., Vital, C., Vallat, J. M., Lagueny, A., Ferrer, X. <strong>Neuropathies amyloides familiales dans trois familles d'origine francaise.</strong> Rev. Neurol. 139: 259-267, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6310716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6310716</a>]" pmid="6310716">Julien et al. (1983)</a>. Onset occurred in the third decade with carpal tunnel syndrome as the first manifestation. By direct genomic DNA sequencing, an A-to-G transition was found in the position corresponding to the first base of TTR codon 49. Since the DNA mutation did not result in the creation or abolition of a restriction endonuclease recognition site, <a href="#19" class="mim-tip-reference" title="Benson, M. D., II, Julien, J., Liepnieks, J., Zeldenrust, S., Benson, M. D. <strong>A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family.</strong> J. Med. Genet. 30: 117-119, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8095301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8095301</a>] [<a href="https://doi.org/10.1136/jmg.30.2.117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8095301">Benson et al. (1993)</a> applied a new DNA analysis technique in which site-directed mutagenesis is used to create a RFLP when the introduced mutation is in proximity to the natural mutation. Since the Italian kindred had later onset with vitreous deposits as the first feature and there was no mention of carpal tunnel syndrome, <a href="#19" class="mim-tip-reference" title="Benson, M. D., II, Julien, J., Liepnieks, J., Zeldenrust, S., Benson, M. D. <strong>A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family.</strong> J. Med. Genet. 30: 117-119, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8095301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8095301</a>] [<a href="https://doi.org/10.1136/jmg.30.2.117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8095301">Benson et al. (1993)</a> raised the question of possible error in identification of the mutation in that family. <a href="#29" class="mim-tip-reference" title="Benson, M. D. <strong>Amyloidosis. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 5345-5378."None>Benson (2001)</a> noted that both families had cardiomyopathy and a similar age of onset. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8095301+6310716+1301926" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918082 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918082;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014384 OR RCV000236028 OR RCV002321480" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014384, RCV000236028, RCV002321480" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014384...</a>
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<p>In a Sicilian family, <a href="#2" class="mim-tip-reference" title="Almeida, M. R., Ferlini, A., Forabosco, A., Gawinowicz, M. A., Costa, P. P., Salvi, F., Plasmati, R., Tassinari, C. A., Altland, K., Saraiva, M. J. <strong>Two transthyretin variants (TTR ala-49 and TTR gln-89) in two Sicilian kindreds with hereditary amyloidosis.</strong> Hum. Mutat. 1: 211-215, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1301926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1301926</a>] [<a href="https://doi.org/10.1002/humu.1380010306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1301926">Almeida et al. (1992)</a> identified a glu89-to-gln substitution in transthyretin (E89Q) as the basis of amyloidosis presenting as neuropathy and cardiomyopathy (AMYLD1; <a href="/entry/105210">105210</a>). In this and another Sicilian family (see <a href="#0025">176300.0025</a>), the TTR variants had been detected by isoelectric focusing (IEF); one was a neutral TTR variant and the other (E89Q) was basic. Three patients in the family with the E89Q mutation presented with carpal tunnel syndrome as the initial manifestation. Many years later, it was followed by polyneuropathy and cardiomyopathy responsible in 1 patient for intractable heart failure and death (<a href="#188" class="mim-tip-reference" title="Salvi, F., Ferlini, A., Plasmati, R., Rubboli, G., Michelucci, R., Forti, A., Saraiva, M. J. M., Costa, P. P., Altland, K., Tassinari, C. A. <strong>Familial amyloidotic polyneuropathy in Italy.</strong> Arquivos Med. 3: 19-24, 1990."None>Salvi et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1301926" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0027 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267607160 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607160;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267607160" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267607160" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014385" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014385" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014385</a>
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<p><a href="#97" class="mim-tip-reference" title="Izumoto, S., Younger, D., Hays, A. P., Martone, R. L., Smith, R. T., Herbert, J. <strong>Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70.</strong> Neurology 42: 2094-2102, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1436517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1436517</a>] [<a href="https://doi.org/10.1212/wnl.42.11.2094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1436517">Izumoto et al. (1992)</a> reported familial amyloid polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>) in a pedigree of German ancestry residing in New Jersey. Eight affected persons presented in the third to seventh decade with carpal tunnel syndrome and 1 member of the family presented with vitreous opacification. Affected subjects were found to be heterozygous for a lys70-to-asn (K70N) mutation in the TTR monomer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1436517" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918083 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918083;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918083?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014386 OR RCV000993524 OR RCV003298033" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014386, RCV000993524, RCV003298033" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014386...</a>
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<p>In a kindred with systemic amyloidosis (AMYLD1; <a href="/entry/105210">105210</a>) presenting as peripheral neuropathy in the sixth and seventh decades of life, <a href="#237" class="mim-tip-reference" title="Uemichi, T., Murrell, J. R., Zeldenrust, S., Benson, M. D. <strong>A new mutant transthyretin (arg10) associated with familial amyloid polyneuropathy.</strong> J. Med. Genet. 29: 888-891, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1362222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1362222</a>] [<a href="https://doi.org/10.1136/jmg.29.12.888" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1362222">Uemichi et al. (1992)</a> demonstrated a T-to-C transition at nucleotide 1038 of the TTR gene leading to substitution of arginine for cysteine at position 10 of the TTR protein molecule (C10R). The mutation created a new restriction recognition site, thus allowing easy diagnosis. The mutation was identified in 7 persons: none of 3 female mutant gene carriers, who were 87, 85, and 76 years old, had symptoms of the disease, while 4 of 5 male carriers, including 1 patient whose DNA was not available for testing, developed the disease in their fifties or sixties. It had been observed in other types of FAP that males are affected predominantly or at earlier ages than females. Affected subjects showed sensory and motor neuropathy, bowel disorder, sexual impotence, cardiomyopathy, and vitreous opacity, but no kidney dysfunction. <a href="#29" class="mim-tip-reference" title="Benson, M. D. <strong>Amyloidosis. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 5345-5378."None>Benson (2001)</a> noted that arg10 replaces the only cysteine in the transthyretin molecule. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1362222" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918084 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918084;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014387" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014387" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014387</a>
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<p>In a French woman with amyloidosis (AMYLD1; <a href="/entry/105210">105210</a>) who presented at the age of 40 with neuropathy in all 4 limbs, diarrhea, and orthostatic hypotension, <a href="#19" class="mim-tip-reference" title="Benson, M. D., II, Julien, J., Liepnieks, J., Zeldenrust, S., Benson, M. D. <strong>A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family.</strong> J. Med. Genet. 30: 117-119, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8095301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8095301</a>] [<a href="https://doi.org/10.1136/jmg.30.2.117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8095301">Benson et al. (1993)</a> found a T-to-C transition converting codon 71 from GTG (valine) to GCG (alanine). The patient was heterozygous. The father died with a similar clinical picture, which included vitreous opacities. Two of 5 children were positive for the mutation. <a href="#3" class="mim-tip-reference" title="Almeida, M. R., Lopez-Andreu, F., Munar-Ques, M., Costa, P. P., Saraiva, M. J. <strong>Transthyretin ALA71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy.</strong> Hum. Mutat. 2: 420-421, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8257997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8257997</a>] [<a href="https://doi.org/10.1002/humu.1380020516" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8257997">Almeida et al. (1993)</a> found the same mutation in a Spanish kindred. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8095301+8257997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0030 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918085 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918085;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918085?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014388 OR RCV001288934 OR RCV002426503 OR RCV002476966" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014388, RCV001288934, RCV002426503, RCV002476966" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014388...</a>
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<p>In a German family with cardiac amyloidosis (AMYLD1; <a href="/entry/105210">105210</a>) in which the index patient presented at the age of 63 years with anginal pain and arrhythmia, <a href="#76" class="mim-tip-reference" title="Hesse, A., Altland, K., Linke, R. P., Almeida, M. R., Saraiva, M. J. M., Steinmetz, A., Maisch, B. <strong>Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant.</strong> Brit. Heart J. 70: 111-115, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8038017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8038017</a>] [<a href="https://doi.org/10.1136/hrt.70.2.111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8038017">Hesse et al. (1993)</a> demonstrated an ile68-to-leu mutation in transthyretin (I68L). Electrocardiography showed a pseudoinfarction pattern. Amyloid was identified by immunohistochemistry in the endomyocardial biopsy specimen. The patient died in an accident before the investigations were completed, but an asymptomatic 22-year-old son was found to be heterozygous for the mutant TTR protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8038017" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0031 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918086 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918086;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014389 OR RCV002453259" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014389, RCV002453259" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014389...</a>
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<p>In a Japanese family, <a href="#212" class="mim-tip-reference" title="Shiomi, K., Nakazato, M., Matsukura, S., Ohnishi, A., Hatanaka, H., Tsuji, S., Murai, Y., Kojima, M., Kangawa, K., Matsuo, H. <strong>A basic transthyretin variant (glu61-to-lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis.</strong> Biochem. Biophys. Res. Commun. 194: 1090-1096, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8352764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8352764</a>] [<a href="https://doi.org/10.1006/bbrc.1993.1933" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8352764">Shiomi et al. (1993)</a> found that a glu61-to-lys (E61K) mutation in transthyretin was responsible for amyloid polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>). This was said to be the first variant TTR with replacement of an acidic amino acid by a basic amino acid to be found in an amyloid precursor protein of FAP. The proband was a 64-year-old man with watery diarrhea beginning at the age of 62 years and progressive sensory and motor changes in the distal parts of all extremities beginning thereafter. A 66-year-old brother was an asymptomatic carrier of mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8352764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0032 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918087 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918087;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014390" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014390" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014390</a>
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<p><a href="#263" class="mim-tip-reference" title="Yasuda, T., Sobue, G., Doyu, M., Nakazato, M., Shiomi, K., Yanagi, T., Mitsuma, T. <strong>Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (ala97 to gly).</strong> J. Neurol. Sci. 121: 97-102, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8133316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8133316</a>] [<a href="https://doi.org/10.1016/0022-510x(94)90162-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8133316">Yasuda et al. (1994)</a> found a novel mutation causing amyloid polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>) in 1 member of a Japanese family. The same mutation was found in 2 asymptomatic carriers. The clinical features were somatic sensory and motor neuropathy with well-preserved autonomic function, late onset, and slow, insidious progression. There were massive amyloid deposits with transthyretin in the myocardium and sural nerve. Molecular genetic studies revealed a substitution of glycine for alanine-97 (A97G) in transthyretin. The first manifestation was a tingling sensation in the proband's toes at the age of 56 years. A 39-year-old daughter and a 17-year-old grandson were the carriers. The presence of myeloid deposits was discovered when a permanent pacemaker was implanted for treatment of complete heart block. Indeed, the diagnosis of amyloidosis was first made at that time, when he was 67 years old. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8133316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0033 CARPAL TUNNEL SYNDROME, FAMILIAL</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918088 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918088;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918088" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918088" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014391" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014391" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014391</a>
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<p><a href="#149" class="mim-tip-reference" title="Murakami, T., Tachibana, S., Endo, Y., Kawai, R., Hara, M., Tanase, S., Ando, M. <strong>Familial carpal tunnel syndrome due to amyloidogenic transthyretin his-114 variant.</strong> Neurology 44: 315-318, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8309582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8309582</a>] [<a href="https://doi.org/10.1212/wnl.44.2.315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8309582">Murakami et al. (1994)</a> presented the cases of a 68-year-old Japanese woman and her 67-year-old brother with carpal tunnel syndrome (<a href="/entry/115430">115430</a>). At the time of surgical carpal tunnel release, Congo-red stained biopsy material was obtained demonstrating the presence of amyloid. There were no other neurologic abnormalities, no orthostatic hypotension, no gastrointestinal problems or sphincter disturbances, and no vitreous opacities. The father, who had had symptoms of carpal tunnel syndrome, died at the age of 76 of pneumonia. Single-strand conformation polymorphism analysis and sequence analysis of PCR-amplified exons of the TTR gene revealed a T-to-C transition converting codon 114 from TAC (tyr) to CAC (his) (Y114H). The same codon is involved in a tyr-to-cys mutation (<a href="#0011">176300.0011</a>) in which the manifestations are more characteristic of amyloid polyneuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8309582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0034 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918089 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918089;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014392 OR RCV000506089 OR RCV001090344 OR RCV002354161 OR RCV002504784 OR RCV003458163" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014392, RCV000506089, RCV001090344, RCV002354161, RCV002504784, RCV003458163" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014392...</a>
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<p>In 2 American patients of German descent with amyloid polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>), <a href="#235" class="mim-tip-reference" title="Uemichi, T., Gertz, M. A., Benson, M. D. <strong>Amyloid polyneuropathy in two German-American families: a new transthyretin variant (val 107).</strong> J. Med. Genet. 31: 416-417, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7914929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7914929</a>] [<a href="https://doi.org/10.1136/jmg.31.5.416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7914929">Uemichi et al. (1994)</a> identified heterozygosity for an ATT (isoleucine) to GTT (valine) transition in the codon corresponding to amino acid 107 of mature TTR (I107V). The mutation created a new MaeIII restriction site which could be used in diagnosis. Although clinical and family information were limited, <a href="#235" class="mim-tip-reference" title="Uemichi, T., Gertz, M. A., Benson, M. D. <strong>Amyloid polyneuropathy in two German-American families: a new transthyretin variant (val 107).</strong> J. Med. Genet. 31: 416-417, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7914929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7914929</a>] [<a href="https://doi.org/10.1136/jmg.31.5.416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7914929">Uemichi et al. (1994)</a> indicated that both patients had had a diagnosis of carpal tunnel syndrome at the age of 56 and subsequently developed polyneuropathy in the legs. The father of 1 of the patients had died at the age of 60 of a similar illness, and necropsy showed amyloidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7914929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0035 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918090 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918090;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014393 OR RCV000516227 OR RCV002415416" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014393, RCV000516227, RCV002415416" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014393...</a>
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<p>In a family originating from Abruzzi, Italy, <a href="#57" class="mim-tip-reference" title="Ferlini, A., Patrosso, M. C., Repetto, M., Frattini, A., Villa, A., Fini, S., Salvi, F., Vezzoni, P., Forabosco, A. <strong>A new mutation (TTR ala-47) in the transthyretin gene associated with hereditary amyloidosis.</strong> Hum. Mutat. 4: 61-64, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951260</a>] [<a href="https://doi.org/10.1002/humu.1380040110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7951260">Ferlini et al. (1994)</a> described amyloid polyneuropathy and cardiomyopathy (AMYLD1; <a href="/entry/105210">105210</a>) in members of 3 generations caused by a substitution of the second nucleotide of codon 47 of transthyretin, which caused a change from glycine to alanine (G47A). A substitution in the first nucleotide of codon 47 had been found as the cause of a gly47-to-arg mutation (G47R; <a href="#0020">176300.0020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7951260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#56" class="mim-tip-reference" title="Ferlini, A., Obici, L., Manzati, E., Biadi, O., Tarantino, E., Conigli, P., Merlini, G., D'Alessandro, M., Mazzaferro, V., Tassinari, C. A., Salvi, F. <strong>Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel 'hot spot' in codon 47.</strong> Clin. Genet. 57: 284-290, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10845569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10845569</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2000.570407.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10845569">Ferlini et al. (2000)</a> described another Italian family with the glycine-to-alanine substitution caused by a G-to-C transversion in the penultimate nucleotide of codon 47. The proband was a 61-year-old woman originating from Tuscany. She presented with a 4-year history of weakness, exercise dyspnea, peripheral edema, and progressive weight loss. Left carpal tunnel surgery had been performed at the age of 56 years. Abdominal fat biopsy showed amyloid deposits. Echocardiography showed restrictive cardiomyopathy with a concentrically thickened left ventricle and reduced ejection fraction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10845569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0036 TRANSTHYRETIN POLYMORPHISM</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1800458 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1800458;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1800458?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1800458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1800458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014394 OR RCV000036379 OR RCV000250966 OR RCV001127884 OR RCV001173541 OR RCV001711070 OR RCV002496358 OR RCV003125830" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014394, RCV000036379, RCV000250966, RCV001127884, RCV001173541, RCV001711070, RCV002496358, RCV003125830" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014394...</a>
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<p><a href="#98" class="mim-tip-reference" title="Jacobson, D. R., Alves, I. L., Saraiva, M. J., Thibodeau, S. N., Buxbaum, J. N. <strong>Transthyretin Ser 6 gene frequency in individuals without amyloidosis.</strong> Hum. Genet. 95: 308-312, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7868124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7868124</a>] [<a href="https://doi.org/10.1007/BF00225199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7868124">Jacobson et al. (1995)</a> found that the TTR ser-6 (gly6-to-ser) allele had a frequency of 0.06 (33 in 558) in Caucasians, a frequency of 0.01 (3 in 242) in African Americans, and a frequency of 0 in 140 Africans and 208 Asians. The authors interpreted the data as indicating that this allele is a nonamyloidogenic population polymorphism in Caucasians with a single Caucasian founder and in the estimated 25% admixture of 'Caucasian' genes in the African American population. Alternatively, as the variant arose from a G-to-A transition at a CG dinucleotide hotspot, it may have arisen on multiple occasions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7868124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0037 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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TTR, PHE64LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918091 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918091;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918091?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014395 OR RCV000236623 OR RCV000763027 OR RCV002433455" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014395, RCV000236623, RCV000763027, RCV002433455" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014395...</a>
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<p><a href="#88" class="mim-tip-reference" title="Ii, S., Minnerath, S., Ii, K., Dyck, P. J., Sommer, S. S. <strong>Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations.</strong> Neurology 41: 893-898, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2046936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2046936</a>] [<a href="https://doi.org/10.1212/wnl.41.6.893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2046936">Ii et al. (1991)</a> described a phe64-to-leu (F64L) mutation in transthyretin in an American patient of Italian origin with amyloid polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>). <a href="#58" class="mim-tip-reference" title="Ferlini, A., Salvi, F., Uncini, A., El-Chami, J., Winter, P., Altland, K., Repetto, M., Littardi, M., Campoleoni, A., Vezzoni, P., Patrosso, M. C. <strong>Homozygosity and heterozygosity for the transthyretin leu64 mutation: clinical, biochemical and molecular findings.</strong> Clin. Genet. 49: 10-14, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8721565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8721565</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1996.tb04317.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8721565">Ferlini et al. (1996)</a> described the same mutation in a family originating in Pescara in Central Italy with several members affected by amyloid polyneuropathy and in a single case in a man who had been adopted as a baby. The 6 affected members in 2 generations of the family were affected by polyneuropathy and/or cardiomyopathy with the onset of the disease in the seventh decade of life. In the sporadic case, onset was at 49 years and the disorder progressed rapidly so that the patient was tetraplegic by the age of 53 years. Whereas the familial cases were heterozygous, the sporadic case appeared to be homozygous. A son of the presumed homozygote was asymptomatic with a normal neurologic examination at the age of 36 years, but was heterozygous by molecular analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2046936+8721565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0038 DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918092 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918092;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918092?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014396 OR RCV000714133 OR RCV001056317 OR RCV001173297 OR RCV002354162" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014396, RCV000714133, RCV001056317, RCV001173297, RCV002354162" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014396...</a>
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<p><a href="#178" class="mim-tip-reference" title="Refetoff, S., Marinov, V. S. Z., Tunca, H., Byrne, M. M., Sunthornthepvarakul, T., Weiss, R. E. <strong>A new family with hyperthyroxinemia caused by transthyretin val-109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study.</strong> J. Clin. Endocr. Metab. 81: 3335-3340, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8784093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8784093</a>] [<a href="https://doi.org/10.1210/jcem.81.9.8784093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8784093">Refetoff et al. (1996)</a> investigated a family with dominantly inherited euthyroid hyperthyroxinemia (DTTRH; <a href="/entry/145680">145680</a>) in which 2 of 8 affected members had ablative thyroid treatment for presumed thyrotoxicosis, and one was misdiagnosed as having resistance to thyroid hormone. All affected individuals had above-normal serum reverse T3 levels, mean T4 levels 50% above those of their unaffected relatives, and total T3 and TSH levels within the normal range. While loss of the BsoFI site in 1 TTR allele suggested the presence of an ala109-to-thr substitution (<a href="#0015">176300.0015</a>), sequencing of the TTR gene revealed a GCC-to-GTC mutation in codon 109 that produces an ala109-to-val substitution. Association constants for T4-binding to TTR-ala109, -thr109, and -val109 were 1.3, 13.6, and 9.5 x 10 -7 M(-1), respectively. Thus, the TTR-val109 variant has an affinity for T4 which approaches that of TTR-thr109 and is sufficient to produce consistent hyperthyroxinemia in heterozygotes. Assuming that mutant and normal alleles are equally expressed and that 20% of serum T4 is bound to TTR, the calculated mean serum T4 levels of TTR-val109 heterozygotes is increased 50%, agreeing with the observed 55% increase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8784093" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0039" class="mim-anchor"></a>
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<strong>.0039 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918093 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918093;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918093?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918093" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918093" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014397 OR RCV000159420 OR RCV002336083" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014397, RCV000159420, RCV002336083" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014397...</a>
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<p>In a German 3-generation family, <a href="#109" class="mim-tip-reference" title="Jenne, D. E., Denzel, K., Blatzinger, P., Winter, P., Obermaier, B., Linke, R. P., Altland, K. <strong>A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis.</strong> Proc. Nat. Acad. Sci. 93: 6302-6307, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8692810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8692810</a>] [<a href="https://doi.org/10.1073/pnas.93.13.6302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8692810">Jenne et al. (1996)</a> identified a 'new' amyloidogenic val20-to-ile (V20I) mutation in the TTR gene. The index patient suffered from severe amyloid cardiomyopathy (AMYLD1; <a href="/entry/105210">105210</a>) at the age of 60. Conformational stability and unfolding behavior of the mutant ile20 monomer in urea gradients was found to be almost indistinguishable from that of wildtype TTR. In contrast, tetramer stability was significantly reduced in agreement with the expected change in the interactions between 2 opposing dimers via the side chain of ile20. The TTR molecule consists of 4 identical, noncovalently linked subunits of 127 amino acids each that form a pair of dimers in the plasma protein complex. The observations of <a href="#109" class="mim-tip-reference" title="Jenne, D. E., Denzel, K., Blatzinger, P., Winter, P., Obermaier, B., Linke, R. P., Altland, K. <strong>A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis.</strong> Proc. Nat. Acad. Sci. 93: 6302-6307, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8692810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8692810</a>] [<a href="https://doi.org/10.1073/pnas.93.13.6302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8692810">Jenne et al. (1996)</a> led them to conclude that amyloidogenic amino acid substitutions in TTR facilitate the conversion of tetrameric TTR complexes into conformational intermediates of the TTR folding pathway that have an intrinsic amyloidogenic potential. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8692810" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Independently, <a href="#102" class="mim-tip-reference" title="Jacobson, D. R., Pan, T., Kyle, R. A., Buxbaum, J. N. <strong>Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis.</strong> Hum. Mutat. 9: 83-85, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8990019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8990019</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<83::AID-HUMU19>3.0.CO;2-L" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8990019">Jacobson et al. (1997)</a> found the V20I mutation in a 50-year-old white man with a 2-year history of exertional epigastric distress, occasional lightheadedness without syncope, and a 1-year history of symptoms consistent with carpal tunnel syndrome. The patient had previously been diagnosed with congestive heart failure and treated with a diuretic. The patient showed mild postural hypotension. Orthotopic cardiac transplantation was performed. The patient's mother had bilateral carpal tunnel release at age 70 and symptoms and findings consistent with cardiac amyloidosis in her late seventies. Three of her brothers had died of heart failure after age 70. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8990019" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918068 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918068;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014398 OR RCV001810860 OR RCV002390108" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014398, RCV001810860, RCV002390108" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014398...</a>
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<p>Amyloid polyneuropathy has been related to a phe33-to-ile mutation in transthyretin (F33I; <a href="#0002">176300.0002</a>). Familial amyloidosis (AMYLD1; <a href="/entry/105210">105210</a>) due to a phe33-to-leu (F33L) mutation was reported in one patient by <a href="#88" class="mim-tip-reference" title="Ii, S., Minnerath, S., Ii, K., Dyck, P. J., Sommer, S. S. <strong>Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations.</strong> Neurology 41: 893-898, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2046936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2046936</a>] [<a href="https://doi.org/10.1212/wnl.41.6.893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2046936">Ii et al. (1991)</a> and <a href="#71" class="mim-tip-reference" title="Harding, J., Skare, J., Skinner, M. <strong>A second transthyretin mutation at position 33 (Leu/Phe) associated with familial amyloidotic polyneuropathy.</strong> Biochim. Biophys. Acta 1097: 183-186, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1932142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1932142</a>] [<a href="https://doi.org/10.1016/0925-4439(91)90033-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1932142">Harding et al. (1991)</a> and in another patient by <a href="#150" class="mim-tip-reference" title="Myers, T. J., Kyle, R. A., Jacobson, D. R. <strong>Familial amyloid with a transthyretin leucine 33 mutation presenting with ascites.</strong> Am. J. Hemat. 59: 249-251, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9798666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9798666</a>] [<a href="https://doi.org/10.1002/(sici)1096-8652(199811)59:3<249::aid-ajh13>3.0.co;2-b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9798666">Myers et al. (1998)</a>. In both instances the patient was of Polish-American ethnicity, had no family history of amyloidosis, and had a late onset of symptoms. In the patient who was doubly reported, onset was at age 53 with paresthesias, sensory loss, and areflexia of the lower limbs due to a sensorimotor polyneuropathy along with constipation, impotence, and orthostatic hypotension due to autonomic neuropathy. The patient progressed to upper- and lower-limb sensorimotor polyneuropathy and an infiltrative cardiomyopathy. The patient reported by <a href="#150" class="mim-tip-reference" title="Myers, T. J., Kyle, R. A., Jacobson, D. R. <strong>Familial amyloid with a transthyretin leucine 33 mutation presenting with ascites.</strong> Am. J. Hemat. 59: 249-251, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9798666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9798666</a>] [<a href="https://doi.org/10.1002/(sici)1096-8652(199811)59:3<249::aid-ajh13>3.0.co;2-b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9798666">Myers et al. (1998)</a> initially presented with symptomatic ascites and showed asymptomatic mild peripheral neuropathy, carpal tunnel syndrome, and mild cardiomyopathy at the age of 65 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2046936+9798666+1932142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918094 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918094;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918094" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918094" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014399 OR RCV001001339" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014399, RCV001001339" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014399...</a>
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<p><a href="#33" class="mim-tip-reference" title="Brett, M., Persey, M. R., Reilly, M. M., Revesz, T., Booth, D. R., Booth, S. E., Hawkins, P. N., Pepys, M. B., Morgan-Hughes, J. A. <strong>Transthyretin leu12pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.</strong> Brain 122: 183-190, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10071047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10071047</a>] [<a href="https://doi.org/10.1093/brain/122.2.183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10071047">Brett et al. (1999)</a> described the case of a middle-aged woman with a leu12-to-pro (L12P) mutation of the TTR gene product, an extensive amyloid deposition in the leptomeninges and liver as well as the involvement of the heart and peripheral nervous system, typical of familial amyloid polyneuropathy caused by variant TTR (AMYLD1; <a href="/entry/105210">105210</a>). Clinical features attributed to her leptomeningeal amyloid included radiculopathy, central hypoventilation, recurrent subarachnoid hemorrhage, depression, seizures, and periods of decreased consciousness. MRI showed a marked enhancement throughout her meninges and ependyma, and TTR amyloid deposition was confirmed by meningeal biopsy. The simultaneous presence of extensive visceral amyloid and clinically significant deposits affecting both peripheral and central nervous system extended the spectrum of amyloid-related disease associated with TTR mutations. <a href="#33" class="mim-tip-reference" title="Brett, M., Persey, M. R., Reilly, M. M., Revesz, T., Booth, D. R., Booth, S. E., Hawkins, P. N., Pepys, M. B., Morgan-Hughes, J. A. <strong>Transthyretin leu12pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.</strong> Brain 122: 183-190, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10071047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10071047</a>] [<a href="https://doi.org/10.1093/brain/122.2.183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10071047">Brett et al. (1999)</a> suggested that leptomeningeal amyloidosis should be considered part of the syndrome of TTR-related familial amyloid polyneuropathy. Their index case was 38 years old when she first began to notice easy bruising. Five years later she began to get persistent headaches, and 6 months later presented with severe headache of sudden onset. CT and lumbar puncture confirmed subarachnoid blood, but angiograms showed no definite bleeding point. Two months later she had another subarachnoid bleed. About 4 years later, she started to notice hearing loss bilaterally, increasingly severe headaches, unsteadiness, urinary frequency, incomplete bladder emptying, and poor urinary stream. A CT scan showed hydrocephalus; insertion of a right lateral ventriculoperitoneal shunt was complicated by a small subdural hematoma. After the shunt, her unsteadiness and urinary symptoms partially improved. After a complicated and distressing course the patient died at the age of 53 years. The family history showed that the mother had committed suicide at the age of 62 after 2 years of depression and physical illness that included urinary symptoms, constipation, and falls. However, histologic study of sections of heart, lung, and kidney from the mother's postmortem material showed no amyloid. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10071047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918095 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918095;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918095?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014400 OR RCV000152543 OR RCV000586735 OR RCV000621591 OR RCV001170383 OR RCV001173296" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014400, RCV000152543, RCV000586735, RCV000621591, RCV001170383, RCV001173296" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014400...</a>
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<p>In a 64-year-old Japanese male suffering from very slowly progressive amyloidosis (AMYLD1; <a href="/entry/105210">105210</a>), <a href="#233" class="mim-tip-reference" title="Terazaki, H., Ando, Y., Misumi, S., Nakamura, M., Ando, E., Matsunaga, N., Shoji, S., Okuyama, M., Ideta, H., Nakagawa, K., Ishizaki, T., Ando, M., Saraiva, M. J. M. <strong>A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels.</strong> Biochem. Biophys. Res. Commun. 264: 365-370, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10529370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10529370</a>] [<a href="https://doi.org/10.1006/bbrc.1999.1514" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10529370">Terazaki et al. (1999)</a> demonstrated compound heterozygosity for an arg104-to-his (R104H) mutation in the TTR gene, which was present in heterozygous state in his father, and the val30-to-met mutation (V30M; <a href="#0001">176300.0001</a>), which was present in heterozygous state in his mother. The total TTR and retinol-binding protein (see <a href="/entry/180260">180260</a>) concentrations in the serum samples of the proband were very high compared with those of patients with the val30-to-met mutation and control subjects. The patient showed decreased visual acuity due to glaucoma and vitreous opacity. Sensory disturbances were present below the knee with mild muscle weakness of the peripheral muscle groups in the upper and lower extremities. Autonomic dysfunction was also found with signs of gastrointestinal, bladder, and pupillary abnormalities. He had undergone a vitrectomy 10 years prior to the report because of amyloid deposits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10529370" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906523 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906523;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906523" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906523" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014401" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014401" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014401</a>
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<p><a href="#56" class="mim-tip-reference" title="Ferlini, A., Obici, L., Manzati, E., Biadi, O., Tarantino, E., Conigli, P., Merlini, G., D'Alessandro, M., Mazzaferro, V., Tassinari, C. A., Salvi, F. <strong>Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel 'hot spot' in codon 47.</strong> Clin. Genet. 57: 284-290, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10845569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10845569</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2000.570407.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10845569">Ferlini et al. (2000)</a> described an gly47-to-arg (G47R) mutation in the TTR gene resulting in amyloidotic polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>) due not to a G-to-C transversion in the first nucleotide of codon 47 (CGG; see <a href="#0020">176300.0020</a>), but to a G-to-A transition in the first nucleotide (AGG). The proband presented at the age of 19 years with progressive muscle weakness and atrophy. Skin biopsy was positive for amyloid by Congo Red staining. Echocardiography showed restrictive cardiomyopathy. By the age of 25 years, he developed peripheral polyneuropathy and had an episode of congestive heart failure. The mother and 2 maternal uncles had generalized muscle atrophy and cardiac failure and died in their forties. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10845569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918096 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918096;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918096" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918096" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014402 OR RCV004791221" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014402, RCV004791221" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014402...</a>
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<p><a href="#236" class="mim-tip-reference" title="Uemichi, T., Liepnieks, J. J., Benson, M. D. <strong>A trinucleotide deletion in the transthyretin gene (delta V 122) in a kindred with familial amyloidotic polyneuropathy.</strong> Neurology 48: 1667-1670, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9191784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9191784</a>] [<a href="https://doi.org/10.1212/wnl.48.6.1667" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9191784">Uemichi et al. (1997)</a> described a trinucleotide deletion in the transthyretin gene leading to loss of valine-122 (V122del) in a patient of Ecuadorian origin with familial amyloid polyneuropathy (AMYLD1; <a href="/entry/105210">105210</a>). The patient had onset, at 57 years of age, of numbness and paresthesia in the legs, later developing sexual impotence, alternating constipation and diarrhea, urinary frequency, difficulty in walking, and cardiac involvement. <a href="#145" class="mim-tip-reference" title="Munar-Ques, M., Saraiva, M. J., Ordeig-Calonge, J., Moreira, P., Perez-Vidal, R., Puig-Pujol, X., Monells-Abel, J., Badal-Alter, J. M. <strong>Familial amyloid polyneuropathy in a Spanish family with a transthyretin deletion (delta-val 122) presenting with carpal tunnel syndrome. (Letter)</strong> Clin. Genet. 58: 411-412, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11140845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11140845</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2000.580515.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11140845">Munar-Ques et al. (2000)</a> reported a Spanish family from Granada with the same TTR val122 deletion. The proposita, a 51-year-old female, and her 4 sibs all presented with carpal tunnel syndrome. The next manifestation was progressive cardiac failure due to restrictive cardiomyopathy consistent with the finding of amyloid deposits seen on echocardiography. In later years, all were handicapped by a progressive lower limb sensorimotor neuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9191784+11140845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894665 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894665;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014403 OR RCV002408461" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014403, RCV002408461" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014403...</a>
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<p>In an American patient of Irish descent with amyloid peripheral neuropathy (AMYLD1; <a href="/entry/105210">105210</a>), <a href="#123" class="mim-tip-reference" title="Klein, C. J., Nakumura, M., Jacobson, D. R., Lacy, M. Q., Benson, M. D., Petersen, R. C. <strong>Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy.</strong> Neurology 51: 1462-1464, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9818883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9818883</a>] [<a href="https://doi.org/10.1212/wnl.51.5.1462" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9818883">Klein et al. (1998)</a> identified a phe44-to-ser (F44S) mutation in the TTR gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9818883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#146" class="mim-tip-reference" title="Murakami, A., Fujiki, K., Hasegawa, S., Imamura, S., Kawano, H., Kanai, A., Matsumoto, T. <strong>Transthyretin ser-44 mutation in a case with vitreous amyloidosis.</strong> Am. J. Ophthal. 133: 272-273, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11812437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11812437</a>] [<a href="https://doi.org/10.1016/s0002-9394(01)01323-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11812437">Murakami et al. (2002)</a> reported vitreous amyloidosis in a Japanese patient with the ser44 mutation in transthyretin, which had not previously been shown to cause vitreous opacities. The patient's visual acuity improved from 20/200 to 20/20 after pars plana vitrectomy. The patient had few signs of systemic amyloidosis. The authors noted that the patient reported by <a href="#123" class="mim-tip-reference" title="Klein, C. J., Nakumura, M., Jacobson, D. R., Lacy, M. Q., Benson, M. D., Petersen, R. C. <strong>Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy.</strong> Neurology 51: 1462-1464, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9818883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9818883</a>] [<a href="https://doi.org/10.1212/wnl.51.5.1462" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9818883">Klein et al. (1998)</a> had no ocular symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9818883+11812437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918097 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918097;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004555832" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004555832" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004555832</a>
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<p>In 3 French sibs with leptomeningeal amyloidosis (AMYLD1; <a href="/entry/105210">105210</a>), <a href="#50" class="mim-tip-reference" title="Ellie, E., Camou, F., Vital, A., Rummens, C., Grateau, G., Delpech, M., Valleix, S. <strong>Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu).</strong> Neurology 57: 135-137, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11445644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11445644</a>] [<a href="https://doi.org/10.1212/wnl.57.1.135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11445644">Ellie et al. (2001)</a> identified a heterozygous G-to-A transition in the TTR gene, resulting in the replacement of glycine by glutamic acid at codon 53 (G53E). Two of the patients experienced recurrent subarachnoid hemorrhages and the third had headaches and episodic weakness and dysphasia. MRI of all 3 patients showed leptomeningeal enhancement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11445644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918098 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918098;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Hungarian family with meningocerebrovascular amyloidosis (AMYLD1; <a href="/entry/105210">105210</a>), <a href="#62" class="mim-tip-reference" title="Garzuly, F., Vidal, R., Wisniewski, T., Brittig, F., Budka, H. <strong>Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly).</strong> Neurology 47: 1562-1567, 1996. Note: Erratum: Neurology 48: 1143 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8960746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8960746</a>] [<a href="https://doi.org/10.1212/wnl.47.6.1562" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8960746">Garzuly et al. (1996)</a> and <a href="#245" class="mim-tip-reference" title="Vidal, R., Garzuly, F., Budka, H., Lalowski, M., Linke, R. P., Brittig, F., Frangione, B., Wisniewski, T. <strong>Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18.</strong> Am. J. Path. 148: 361-366, 1996. Note: Comment: Am. J. Path. 148: 351-354, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8579098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8579098</a>]" pmid="8579098">Vidal et al. (1996)</a> identified a mutation in the transthyretin gene, resulting in an asp18-to-gly (D18G) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8960746+8579098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0048 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894665 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894665;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918099 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918099;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918099" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918099" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014403 OR RCV002408461" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014403, RCV002408461" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014403...</a>
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<p>In affected members of the family with oculoleptomeningeal amyloidosis (AMYLD1; <a href="/entry/105210">105210</a>) reported by <a href="#243" class="mim-tip-reference" title="Uitti, R. J., Donat, J. R., Rozdilsky, B., Schneider, R. J., Koeppen, A. H. <strong>Familial oculoleptomeningeal amyloidosis: report of a new family with unusual features.</strong> Arch. Neurol. 45: 1118-1122, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3178532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3178532</a>] [<a href="https://doi.org/10.1001/archneur.1988.00520340072015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3178532">Uitti et al. (1988)</a>, <a href="#239" class="mim-tip-reference" title="Uemichi, T., Uitti, R. J., Koeppen, A. H., Donat, J. R., Benson, M. D. <strong>Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64.</strong> Arch. Neurol. 56: 1152-1155, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10488818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10488818</a>] [<a href="https://doi.org/10.1001/archneur.56.9.1152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10488818">Uemichi et al. (1999)</a> identified a heterozygous 3293T-C transition in the TTR gene, resulting in a phe64-to-ser (F64S) substitution. The authors noted that another mutation in codon 64 (<a href="#0037">176300.0037</a>) had been described in a family with amyloidosis without CNS involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3178532+10488818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0049 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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TTR, VAL30GLY
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs79977247 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs79977247;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs79977247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs79977247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001857350" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001857350" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001857350</a>
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<p>In a family with oculoleptomeningeal amyloidosis (AMYLD1; <a href="/entry/105210">105210</a>) reported by <a href="#63" class="mim-tip-reference" title="Goren, H., Steinberg, M. C., Farboody, G. H. <strong>Familial oculoleptomeningeal amyloidosis.</strong> Brain 103: 473-495, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7417777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7417777</a>] [<a href="https://doi.org/10.1093/brain/103.3.473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7417777">Goren et al. (1980)</a>, <a href="#169" class="mim-tip-reference" title="Petersen, R. B., Tresser, N. J., Richardson, S. L., Gali, M., Goren, H., Gambetti, P. <strong>A family with oculoleptomeningeal amyloidosis and dementia has a mutation in the transthyretin gene (Abstract)</strong> J. Neuropath. Exp. Neurol. 54: 413 only, 1995."None>Petersen et al. (1995)</a> identified a mutation in the TTR gene, resulting in a val30-to-gly (V30G) substitution (see also <a href="#168" class="mim-tip-reference" title="Petersen, R. B., Goren, H., Cohen, M., Richardson, S. L., Tresser, N., Lynn, A., Gali, M., Estes, M., Gambetti, P. <strong>Transthyretin amyloidosis: a new mutation associated with dementia.</strong> Ann. Neurol. 41: 307-313, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9066351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9066351</a>] [<a href="https://doi.org/10.1002/ana.410410305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9066351">Petersen et al., 1997</a>. Other mutations in this codon have been found in patients with a clinically distinct amyloid polyneuropathy (see, e.g., <a href="#0001">176300.0001</a>, <a href="#0014">176300.0014</a>), and <a href="#0024">176300.0024</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9066351+7417777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0050 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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TTR, TYR69HIS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918100 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918100;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918100" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918100" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000586493 OR RCV001811140 OR RCV002426504" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000586493, RCV001811140, RCV002426504" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000586493...</a>
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<p>In a large Swedish family with autosomal dominant oculoleptomeningeal amyloidosis (AMYLD1; <a href="/entry/105210">105210</a>) characterized by seizures, dementia, stroke-like episodes, ataxia, and vitreous amyloid in some, <a href="#31" class="mim-tip-reference" title="Blevins, G., Macaulay, R., Harder, S., Fladeland, D., Yamashita, T., Yazaki, M., Asl, H. K., Benson, M. D., Donat, J. R. <strong>Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His.</strong> Neurology 60: 1625-1630, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12771253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12771253</a>] [<a href="https://doi.org/10.1212/01.wnl.0000065901.18353.ab" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12771253">Blevins et al. (2003)</a> identified a heterozygous mutation in the TTR gene, resulting in a tyr69-to-his substitution (Y69H). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12771253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0051 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894664 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894664;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014379" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014379" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014379</a>
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<p>In a 53-year-old Japanese man with leptomeningeal amyloidosis (AMYLD1; <a href="/entry/105210">105210</a>), <a href="#67" class="mim-tip-reference" title="Hagiwara, K., Ochi, H., Suzuki, S., Shimizu, Y., Tokuda, T., Murai, H., Shigeto, H., Ohyagi, Y., Iwata, M., Iwaki, T., Kira, J. <strong>Highly selective leptomeningeal amyloidosis with transthyretin variant Ala25Thr.</strong> Neurology 72: 1358-1360, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19365058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19365058</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181a0fe74" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19365058">Hagiwara et al. (2009)</a> identified a heterozygous mutation in the TTR gene, resulting in an ala25-to-thr (A25T) substitution. The patient presented at age 48 years with chronic progressive polyradiculoneuropathy, severe sensory ataxia, bilateral sensorineural hearing loss, and cerebellar ataxia. There was no visceral organ involvement. He died at age 52 of multiple intracranial hemorrhages. Postmortem examination showed dense hyaline material in the piaarachnoid and leptomeningeal vessels of the brain that were positive for anti-TTR antibodies. Amyloid deposits involved the adventitia, media, and external elastic lamina of the vessels. The spinal cord was compressed by thickened leptomeninges, in which massive amyloid deposits and reactive connective tissue formation were observed. There was no visceral organ involvement. <a href="#67" class="mim-tip-reference" title="Hagiwara, K., Ochi, H., Suzuki, S., Shimizu, Y., Tokuda, T., Murai, H., Shigeto, H., Ohyagi, Y., Iwata, M., Iwaki, T., Kira, J. <strong>Highly selective leptomeningeal amyloidosis with transthyretin variant Ala25Thr.</strong> Neurology 72: 1358-1360, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19365058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19365058</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181a0fe74" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19365058">Hagiwara et al. (2009)</a> referred to the studies of <a href="#210" class="mim-tip-reference" title="Sekijima, Y., Wiseman, R. L., Matteson, J., Hammarstrom, P., Miller, S. R., Sawkar, A. R., Balch, W. E., Kelly, J. W. <strong>The biological and chemical basis for tissue-selective amyloid disease.</strong> Cell 121: 73-85, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15820680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15820680</a>] [<a href="https://doi.org/10.1016/j.cell.2005.01.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15820680">Sekijima et al. (2005)</a> who showed that the TTR A25T variant had faster homotetrameric dissociation rates compared to other TTR variants and could be secreted more efficiently into the CNS by the choroid plexus via a T4-chaperoning mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15820680+19365058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0052 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267607161 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607161;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs267607161?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267607161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267607161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014410 OR RCV000223869 OR RCV002453260 OR RCV002496359" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014410, RCV000223869, RCV002453260, RCV002496359" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014410...</a>
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<p>In 5 unrelated Chinese Taiwanese patients with TTR-related amyloidosis (AMYLD1; <a href="/entry/105210">105210</a>), <a href="#132" class="mim-tip-reference" title="Liu, Y. T., Lee, Y. C., Yang, C. C., Chen, M. L., Lin, K. P. <strong>Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: genetic studies and phenotype expression.</strong> J. Neurol. Sci. 267: 91-99, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18022643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18022643</a>] [<a href="https://doi.org/10.1016/j.jns.2007.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18022643">Liu et al. (2008)</a> identified a heterozygous 349G-T transversion in exon 4 of the TTR gene, resulting in an ala97-to-ser (A97S) substitution in a highly conserved residue. The phenotype consisted of late-onset polyneuropathy, carpal tunnel syndrome, and autonomic dysfunction particularly affecting the gastrointestinal tract. Heart was the most frequently involved vital organ. Haplotype analysis suggested independent origins for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18022643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#262" class="mim-tip-reference" title="Yang, N. C.-C., Lee, M.-J., Chao, C.-C., Chuang, Y.-T., Lin, W.-M., Chang, M.-F., Hsieh, P.-C., Kan, H.-W., Lin, Y.-H., Yang, C.-C., Chiu, M.-J., Liou, H.-H., Hsieh, S.-T. <strong>Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser.</strong> Neurology 75: 532-538, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20697105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20697105</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181ec7fda" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20697105">Yang et al. (2010)</a> identified the A97S mutation in 19 unrelated Taiwanese patients with a generalized disabling polyneuropathy. The age at symptom onset ranged from 48 to 68 years, and severe disease progression occurred within 5 years. All had motor, sensory, and autonomic symptoms with loss of sensation to thermal stimuli and loss of proprioception. Sural nerve biopsies showed an eosinophilic deposition of TTR-positive amyloid and a pattern of axonal degeneration with loss of large and small myelinated fibers. Skin biopsies of all patients showed a severe loss of intraepidermal nerve fiber density and sparse degenerated fragmented dermal nerve fibers compared to controls; the degree of loss of these fibers correlated with clinical severity. The mutation was not found in 365 Taiwanese controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20697105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Andrade1969" class="mim-tip-reference" title="Andrade, C., Canijo, M., Klein, D., Kaelin, A. <strong>The genetic aspects of the familial amyloidotic polyneuropathy: Portuguese type of paramyloidosis.</strong> Humangenetik 7: 163-175, 1969.">Andrade et al. (1969)</a>; <a href="#Becker1963" class="mim-tip-reference" title="Becker, P. E., Antunes, L., Rosario, M., Barros, F. <strong>Paramyloidose der peripheren Nerven in Portugal.</strong> Z. Mensch. Vererb. Konstitutionsl. 37: 329-364, 1963.">Becker et al. (1963)</a>; <a href="#Benson1985" class="mim-tip-reference" title="Benson, M. D., Dwulet, F. E. <strong>Identification of carriers of a variant plasma prealbumin (transthyretin) associated with familial amyloidotic polyneuropathy type I.</strong> J. Clin. Invest. 75: 71-75, 1985.">Benson and Dwulet
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(1985)</a>; <a href="#Benson1993" class="mim-tip-reference" title="Benson, M. D., II, Turpin, J. C., Lucotte, G., Zeldenrust, S., LeChevalier, B., Benson, M. D. <strong>A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.</strong> J. Med. Genet. 30: 120-122, 1993.">Benson et al. (1993)</a>; <a href="#Benson1981" class="mim-tip-reference" title="Benson, M. D. <strong>Partial amino acid sequence homology between an heredofamilial amyloid protein and human plasma prealbumin.</strong> J. Clin. Invest. 67: 1035-1041, 1981.">Benson (1981)</a>; <a href="#Block1956" class="mim-tip-reference" title="Block, W. D., Carey, J. G., Curtis, A. C., Falls, H. F., Jackson, C. E., Rukavina, J. G. <strong>Systemic amyloidosis: a review and an experimental, genetic and clinical study of 29 cases with particular emphasis on the familial form.</strong> Medicine (Baltimore) 35: 239-334, 1956.">Block et al. (1956)</a>; <a href="#Coelho1994" class="mim-tip-reference" title="Coelho, T., Sousa, A., Lourenco, E., Ramalheira, J. <strong>A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected.</strong> J. Med. Genet. 31: 293-299, 1994.">Coelho et al. (1994)</a>; <a href="#Cohen1978" class="mim-tip-reference" title="Cohen, A. S., Cathcart, E. S., Skinner, M. <strong>Amyloidosis: current trends in its investigation.</strong> Arthritis Rheum. 21: 153-160, 1978.">Cohen et al. (1978)</a>; <a href="#Cohen1967" class="mim-tip-reference" title="Cohen, A. S. <strong>Amyloidosis.</strong> New Eng. J. Med. 277: 522-530, and 574-583, and 628-638, 1967.">Cohen (1967)</a>; <a href="#Cohen1972">Cohen
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(1972)</a>; <a href="#Dwulet1983" class="mim-tip-reference" title="Dwulet, F. E., Benson, M. D. <strong>Polymorphism of human plasma thyroxine binding prealbumin.</strong> Biochem. Biophys. Res. Commun. 114: 657-662, 1983.">Dwulet and Benson (1983)</a>; <a href="#Franklin1979" class="mim-tip-reference" title="Franklin, E. C. <strong>Some unsolved problems in the amyloid diseases. (Editorial)</strong> Am. J. Med. 66: 365-367, 1979.">Franklin (1979)</a>; <a href="#Gorevic1982" class="mim-tip-reference" title="Gorevic, P. D., Pras, M., Wright, J. R., Frangione, B. <strong>'Senile' cardiac amyloidosis: isolation of fibrils and immunohistological identity with heredofamilial neuropathic amyloid due to tissue deposition of prealbumin. (Abstract)</strong> Clin. Res. 30: 349A, 1982.">Gorevic et al.
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(1982)</a>; <a href="#Heller1964" class="mim-tip-reference" title="Heller, H., Sohar, E., Gafni, J. <strong>Classification of amyloidosis with special regard to the genetic types.</strong> Pathol. Microbiol. (Basel) 27: 833-840, 1964.">Heller et al. (1964)</a>; <a href="#Hortajda1964" class="mim-tip-reference" title="Hortajda, S., Filipe, I., Duarte, S. <strong>Portuguese polyneuritic familial type of amyloidosis.</strong> Pathol. Microbiol. (Basel) 27: 809-825, 1964.">Hortajda et al. (1964)</a>; <a href="#Husby1985" class="mim-tip-reference" title="Husby, G., Ranlov, P. J., Sletten, K., Marhaug, G. <strong>The amyloid in familial amyloidotic cardiomyopathy of Danish origin is related to prealbumin. In: Glenner, G. G. (ed.): Proceedings of the IV International Symposium on Amyloidosis.</strong> Amsterdam: Excerpta Medica (pub.) 1985.">Husby et al.
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(1985)</a>; <a href="#Ide1986" class="mim-tip-reference" title="Ide, M., Mita, S., Ikegawa, S., Maeda, S., Shimada, K., Araki, S. <strong>Identification of carriers of mutant prealbumin gene associated with familial amyloidotic polyneuropathy type I by Southern blot procedures: study of six pedigrees in the Arao district of Japan.</strong> Hum. Genet. 73: 281-285, 1986.">Ide et al. (1986)</a>; <a href="#Ikeda1987" class="mim-tip-reference" title="Ikeda, S.-I., Hanyu, N., Hongo, M., Yoshioka, J., Oguchi, H., Yanagisawa, N., Kobayashi, T., Tsukagoshi, H., Ito, N., Yokota, T. <strong>Hereditary generalized amyloidosis with polyneuropathy: clinicopathological study of 65 Japanese patients.</strong> Brain 110: 315-337, 1987.">Ikeda et al. (1987)</a>; <a href="#Itoga1982" class="mim-tip-reference" title="Itoga, E., Kito, S. <strong>Genetic aspects of familial amyloid polyneuropathy in Ogawa Village, Japan.</strong> Jinrui Idengaku Zasshi 27: 319-334, 1982.">Itoga and Kito
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(1982)</a>; <a href="#Lalloz1987" class="mim-tip-reference" title="Lalloz, M. R. A., Byfield, P. G. H., Goel, K. M., Loudon, M. M., Thomson, J. A., Himsworth, R. L. <strong>Hyperthyroxinemia due to the coexistence of two raised affinity thyroxine-binding proteins (albumin and prealbumin) in one family.</strong> J. Clin. Endocr. Metab. 64: 346-352, 1987.">Lalloz et al. (1987)</a>; <a href="#Lessell1975" class="mim-tip-reference" title="Lessell, S., Wolf, P. A., Benson, M. D., Cohen, A. S. <strong>Scalloped pupils in familial amyloidosis.</strong> New Eng. J. Med. 293: 914-915, 1975.">Lessell et al. (1975)</a>; <a href="#Nakazato1984" class="mim-tip-reference" title="Nakazato, M., Kurihara, T., Kangawa, K., Matsuo, H. <strong>Diagnostic radioimmunoassay for familial amyloidotic polyneuropathy. (Letter)</strong> Lancet 324: 1274-1275, 1984. Note: Originally Volume II.">Nakazato et al.
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(1984)</a>; <a href="#Nordlie1988" class="mim-tip-reference" title="Nordlie, M., Sletten, K., Husby, G., Ranlov, P. J. <strong>A new prealbumin variant in familial cardiomyopathy of Danish origin.</strong> Scand. J. Immun. 27: 119-122, 1988.">Nordlie et al. (1988)</a>; <a href="#Rubinow1981" class="mim-tip-reference" title="Rubinow, A., Cohen, A. S. <strong>Skin involvement in familial amyloidotic polyneuropathy.</strong> Neurology 31: 1341-1345, 1981.">Rubinow and Cohen (1981)</a>; <a href="#Rubinow1986" class="mim-tip-reference" title="Rubinow, A., Cohen, A. S. <strong>Scalloped pupils in familial amyloid polyneuropathy.</strong> Arthritis Rheum. 29: 445-447, 1986.">Rubinow and
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Cohen (1986)</a>; <a href="#Rukavina1993" class="mim-tip-reference" title="Rukavina, J. G., Block, W. D., Jackson, C. E., Falls, H. F., Carey, J. H., Curtis, A. C. <strong>Primary systemic amyloidosis: a review and an experimental, genetic and clinical study of 29 cases with particular emphasis on the familial form. 1956</strong> Medicine (Baltimore) 72: 45-63, 1993. Note: Discussion, 63-65.">Rukavina et al. (1993)</a>; <a href="#Sack1981" class="mim-tip-reference" title="Sack, G. H., Jr., Dumars, K. W., Gummerson, K. S., Law, A., McKusick, V. A. <strong>Three forms of dominant amyloid neuropathy.</strong> Johns Hopkins Med. J. 149: 239-247, 1981.">Sack et al. (1981)</a>; <a href="#Sakoda1983" class="mim-tip-reference" title="Sakoda, S., Suzuki, T., Higa, S., Ueji, M., Kishimoto, S., Hayashi, A., Yasuda, N., Takaba, Y., Nakajima, A. <strong>Genetic studies of familial amyloid polyneuropathy in the Arao district of Japan: I. The genealogical survey.</strong> Clin. Genet. 24: 334-338, 1983.">Sakoda et
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al. (1983)</a>; <a href="#Saraiva1984" class="mim-tip-reference" title="Saraiva, M. J. M., Birken, S., Costa, P. P., Goodman, D. S. <strong>Family studies of the genetic abnormality in transthyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy.</strong> Ann. N.Y. Acad. Sci. 435: 86-100, 1984.">Saraiva et al. (1984)</a>; <a href="#Saraiva1983" class="mim-tip-reference" title="Saraiva, M. J. M., Costa, P. P., Goodman, D. S. <strong>Studies on plasma transthyretin (prealbumin) in familial amyloid polyneuropathy, Portuguese type.</strong> J. Lab. Clin. Med. 102: 590-603, 1983.">Saraiva et al. (1983)</a>; <a href="#Saraiva1986" class="mim-tip-reference" title="Saraiva, M. J. M., Sherman, W., Goodman, D. S. <strong>Presence of a plasma transthyretin (prealbumin) variant in familial amyloidotic polyneuropathy in a kindred of Greek origin.</strong> J. Lab. Clin. Med. 108: 17-22, 1986.">Saraiva et
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al. (1986)</a>; <a href="#Sasaki1985" class="mim-tip-reference" title="Sasaki, H., Yoshioka, N., Takagi, Y., Sakaki, Y. <strong>Structure of the chromosomal gene for human serum prealbumin.</strong> Gene 37: 191-197, 1985.">Sasaki et al. (1985)</a>; <a href="#Schlesinger1962" class="mim-tip-reference" title="Schlesinger, A. S., Duggins, V. A., Masucci, E. F. <strong>Peripheral neuropathy in familial primary amyloidosis.</strong> Brain 85: 357-370, 1962.">Schlesinger et al. (1962)</a>; <a href="#Sequeiros1987" class="mim-tip-reference" title="Sequeiros, J., Saraiva, M. J. M. <strong>Onset in the seventh decade and lack of symptoms in heterozygotes for the TTR (met30) mutation in hereditary amyloid neuropathy: type I (Portuguese, Andrade).</strong> Am. J. Med. Genet. 27: 345-357, 1987.">Sequeiros and Saraiva (1987)</a>; <a href="#Shoji1981" class="mim-tip-reference" title="Shoji, S., Okano, A. <strong>Amyloid fibril protein in familial amyloid polyneuropathy.</strong> Neurology 31: 186-190, 1981.">Shoji and Okano (1981)</a>; <a href="#Skinner1981" class="mim-tip-reference" title="Skinner, M., Cohen, A. S. <strong>The prealbumin nature of the amyloid protein in familial amyloid polyneuropathy (FAP)-Swedish variety.</strong> Biochem. Biophys. Res. Commun. 99: 1326-1332, 1981.">Skinner and
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Cohen (1981)</a>; <a href="#Skinner1985" class="mim-tip-reference" title="Skinner, M., Connors, L. H., Rubinow, A., Libbey, C., Sipe, J. D., Cohen, A. S. <strong>Lowered prealbumin levels in patients with familial amyloid polyneuropathy (FAP) and their non-affected but at risk relatives.</strong> Am. J. Med. Sci. 289: 17-21, 1985.">Skinner et al. (1985)</a>; <a href="#Steen1983" class="mim-tip-reference" title="Steen, L., Ek, B. <strong>Familial amyloidosis with polyneuropathy: a long-term follow-up of 121 patients with special reference to gastrointestinal symptoms.</strong> Acta Med. Scand. 214: 387-397, 1983.">Steen and Ek (1983)</a>; <a href="#Tsuzuki1985" class="mim-tip-reference" title="Tsuzuki, T., Mita, S., Maeda, S., Araki, S., Shimada, K. <strong>Structure of the human prealbumin gene.</strong> J. Biol. Chem. 260: 12224-12227, 1985.">Tsuzuki et
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al. (1985)</a>; <a href="#Wada1986" class="mim-tip-reference" title="Wada, Y., Matsuo, T., Katakuse, I., Suzuki, T., Azuma, T., Tsujino, S., Kishimoto, S., Matsuda, H., Hayashi, A. <strong>Mass spectrometric detection of the plasma prealbumin (transthyretin) variant associated with familial amyloidotic polyneuropathy.</strong> Biochim. Biophys. Acta 873: 316-319, 1986.">Wada et al. (1986)</a>; <a href="#Wallace1985" class="mim-tip-reference" title="Wallace, M. R., Naylor, S. L., Kluve-Beckerman, B., Long, G. L., McDonald, L., Shows, T. B., Benson, M. D. <strong>Localization of the human prealbumin gene to chromosome 18.</strong> Biochem. Biophys. Res. Commun. 129: 753-758, 1985.">Wallace et al. (1985)</a>; <a href="#Wallace1985" class="mim-tip-reference" title="Wallace, M. R., Naylor, S. L., Kluve-Beckerman, B., Long, G. L., McDonald, L., Shows, T. B., Benson, M. D. <strong>Localization of the human prealbumin gene to chromosome 18.</strong> Biochem. Biophys. Res. Commun. 129: 753-758, 1985.">Wallace et al.
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(1985)</a>; <a href="#Whitehouse1985" class="mim-tip-reference" title="Whitehouse, D. B., Hopkinson, D. A., Hill, A. V. S., Bowden, D. K. <strong>Analysis of genetic variation in two human thyroxine-binding plasma proteins by immunodetection after isoelectric focusing.</strong> Ann. Hum. Genet. 49: 259-262, 1985.">Whitehouse et al. (1985)</a>; <a href="#Yoshioka1986" class="mim-tip-reference" title="Yoshioka, K., Yoshioka, N., Nakabeppu, K., Sakaki, Y. <strong>Two RFLPs associated with the human prealbumin gene (PALB).</strong> Nucleic Acids Res. 14: 3147, 1986.">Yoshioka et al. (1986)</a>
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Almeida, M. R., Alves, I. L., Sakaki, Y., Costa, P. P., Saraiva, M. J. M.
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<strong>Prenatal diagnosis of familial amyloidotic polyneuropathy: evidence for an early expression of the associated transthyretin methionine 30.</strong>
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Hum. Genet. 85: 623-626, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1977686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1977686</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1977686" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00193586" target="_blank">Full Text</a>]
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Almeida, M. R., Ferlini, A., Forabosco, A., Gawinowicz, M. A., Costa, P. P., Salvi, F., Plasmati, R., Tassinari, C. A., Altland, K., Saraiva, M. J.
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<strong>Two transthyretin variants (TTR ala-49 and TTR gln-89) in two Sicilian kindreds with hereditary amyloidosis.</strong>
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Hum. Mutat. 1: 211-215, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1301926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1301926</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1301926" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.1380010306" target="_blank">Full Text</a>]
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Almeida, M. R., Lopez-Andreu, F., Munar-Ques, M., Costa, P. P., Saraiva, M. J.
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<strong>Transthyretin ALA71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy.</strong>
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Hum. Mutat. 2: 420-421, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8257997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8257997</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8257997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.1380020516" target="_blank">Full Text</a>]
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Alves, I. L., Almeida, M. R., Skare, J., Skinner, M., Kurose, K., Sakaki, Y., Costa, P. P., Saraiva, M. J. M.
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<strong>Amyloidogenic and non-amyloidogenic transthyretin Asn 90 variants.</strong>
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Clin. Genet. 42: 27-30, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1355416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1355416</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1355416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00166754" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/bjo.81.4.295" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00287080" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/75.3.408" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1968.00470360015001" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000071219.85847.4e" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/art.1780261211" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI111699" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.30.2.117" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.cell.2004.11.040" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.81.3.694" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9343(79)91050-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI113261" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.47.6.1562" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/WNL.0b013e3181a0fe74" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.1062245" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.1079589" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/anr.1780321119" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0925-4439(91)90033-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320390415" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.36.7.900" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.47.4.988" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/hrt.70.2.111" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03627.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.31.5.351" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.42.11.2094" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00225199" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00220559" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<83::AID-HUMU19>3.0.CO;2-L" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM199702133360703" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004390050199" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00210764" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.93.13.6302" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.261419998" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01870754" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM195912172612503" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archopht.1958.00940081056009" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archopht.121.3.351" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000115139" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/mus.880080902" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/mus.880131109" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0002-9394(02)01838-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.59.11.1771" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM197510302931808" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1021/bi00096a024" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.410270516" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/122.10.1951" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0006-291x(84)91590-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320390128" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM198204223061605" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI114938" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0006-291x(05)81506-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0006-291x(92)91763-g" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.44.2.315" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0006-291x(84)80093-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0006-291x(84)80222-3" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(84)92821-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(85)91984-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0006-291x(05)81516-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00194324" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI111390" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1749-6632.1984.tb13742.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00273648" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI112224" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.36.11.1413" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-3083.1990.tb02928.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.1380050302" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1990.tb03615.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/85.2.357" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1089/thy.1992.2.21" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320270213" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/bbrc.1993.1933" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.31.2.186" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1991.tb02979.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0006-291x(89)91802-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00205182" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0006-291x(81)90764-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00000441-198501000-00003" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004390050991" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddi051" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00591077" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/114.6.2675" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/110.5.1231" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0006-291x(87)91135-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0022-510x(92)90132-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.2169/internalmedicine.34.748" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0006-291x(83)80224-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/bbrc.1999.1514" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.31.5.416" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.48.6.1667" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.29.12.888" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/mus.880150807" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.56.9.1152" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/115.5.1275" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0006-291x(90)92011-n" target="_blank">Full Text</a>]
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<a id="Ueno1990" class="mim-anchor"></a>
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<strong>A novel variant of transthyretin (tyr-114 to cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases.</strong>
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[<a href="https://doi.org/10.1016/0006-291x(90)91445-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1988.00520340072015" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1097-4598(199812)21:12<1783::aid-mus24>3.0.co;2-o" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0167-4838(86)90061-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/oxfordjournals.jbchem.a135442" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320250220" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI112573" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI113293" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0006-291x(85)91956-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.87.7.2843" target="_blank">Full Text</a>]
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Yamamoto, K., Ikeda, S., Hanyu, N., Takeda, S., Yanagisawa, N.
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<strong>A pedigree analysis with minimized ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9475090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9475090</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9475090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.35.1.23" target="_blank">Full Text</a>]
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<a id="Yang2010" class="mim-anchor"></a>
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Yang, N. C.-C., Lee, M.-J., Chao, C.-C., Chuang, Y.-T., Lin, W.-M., Chang, M.-F., Hsieh, P.-C., Kan, H.-W., Lin, Y.-H., Yang, C.-C., Chiu, M.-J., Liou, H.-H., Hsieh, S.-T.
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<strong>Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser.</strong>
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Neurology 75: 532-538, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20697105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20697105</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20697105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/WNL.0b013e3181ec7fda" target="_blank">Full Text</a>]
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<a id="Yasuda1994" class="mim-anchor"></a>
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Yasuda, T., Sobue, G., Doyu, M., Nakazato, M., Shiomi, K., Yanagi, T., Mitsuma, T.
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<strong>Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (ala97 to gly).</strong>
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J. Neurol. Sci. 121: 97-102, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8133316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8133316</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8133316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0022-510x(94)90162-7" target="_blank">Full Text</a>]
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Yoshinaga, T., Nakazato, M., Ikeda, S., Ohnishi, A.
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<strong>Three siblings homozygous for the transthyretin-met(30) gene in familial amyloidotic polyneuropathy: evaluation of their clinical pictures with reference to those of 10 other cases reported.</strong>
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Clin. Neurol. 34: 99-105, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8194279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8194279</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8194279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Yoshioka, A., Yamaya, Y., Saiki, S., Hirose, G., Shimazaki, K., Nakamura, M., Ando, Y.
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<strong>A case of familial amyloid polyneuropathy homozygous for the transthyretin val30met gene with motor-dominant sensorimotor polyneuropathy and unusual sural nerve pathological findings.</strong>
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Arch. Neurol. 58: 1914-1918, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709003</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.58.11.1914" target="_blank">Full Text</a>]
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Yoshioka, K., Furuya, H., Sasaki, H., Saraiva, M. J. M., Costa, P. P., Sakaki, Y.
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<strong>Haplotype analysis of familial amyloidotic polyneuropathy: evidence for multiple origins of the val-to-met mutation most common to the disease.</strong>
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Hum. Genet. 82: 9-13, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2714785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2714785</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2714785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00288262" target="_blank">Full Text</a>]
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Yoshioka, K., Sasaki, H., Yoshioka, N., Furuya, H., Harada, T., Kito, S., Sakaki, Y.
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<strong>Structure of the mutant prealbumin gene responsible for familial amyloidotic polyneuropathy.</strong>
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Molec. Biol. Med. 3: 319-328, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3022107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3022107</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3022107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Yoshioka, K., Yoshioka, N., Nakabeppu, K., Sakaki, Y.
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<strong>Two RFLPs associated with the human prealbumin gene (PALB).</strong>
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Nucleic Acids Res. 14: 3147, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3960742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3960742</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3960742" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/14.7.3147" target="_blank">Full Text</a>]
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Zaros, C., Genin, E., Hellman, U., Saporta, M. A., Languille, L., Wadington-Cruz, M., Suhr, O., Misrahi, M., Plante-Bordeneuve, V.
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<strong>On the origin of the transthyretin val30met familial amyloid polyneuropathy.</strong>
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Ann. Hum. Genet. 72: 478-484, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18460047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18460047</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18460047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.2008.00439.x" target="_blank">Full Text</a>]
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Zolyomi, Z., Benson, M. D., Halasz, K., Uemichi, T., Fekete, G.
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<strong>Transthyretin mutation (serine 84) associated with familial amyloid polyneuropathy in a Hungarian family.</strong>
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Amyloid 5: 30-34, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9547003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9547003</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9547003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/13506129809007287" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 06/14/2018
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Ada Hamosh - updated : 1/20/2015<br>Cassandra L. Kniffin - updated : 10/22/2010<br>Cassandra L. Kniffin - updated : 8/16/2010<br>Anne M. Stumpf - reorganized : 2/18/2010<br>Cassandra L. Kniffin - updated : 3/9/2009<br>Marla J. F. O'Neill - updated : 1/8/2009<br>George E. Tiller - updated : 2/5/2008<br>Victor A. McKusick - updated : 2/5/2008<br>Cassandra L. Kniffin - updated : 12/21/2005<br>Stylianos E. Antonarakis - updated : 1/10/2005<br>Marla J. F. O'Neill - edited : 7/20/2004<br>Victor A. McKusick - updated : 5/12/2004<br>Marla J. F. O'Neill - updated : 5/3/2004<br>Jane Kelly - updated : 3/18/2003<br>Ada Hamosh - updated : 2/13/2003<br>Victor A. McKusick - updated : 1/30/2003<br>Victor A. McKusick - updated : 1/22/2003<br>Cassandra L. Kniffin - updated : 11/13/2002<br>Jane Kelly - updated : 11/5/2002<br>Cassandra L. Kniffin - updated : 6/11/2002<br>Victor A. McKusick - updated : 6/10/2002<br>Victor A. McKusick - updated : 1/9/2002<br>Victor A. McKusick - updated : 12/21/2001<br>Victor A. McKusick - updated : 11/9/2001<br>Ada Hamosh - updated : 10/9/2001<br>Victor A. McKusick - updated : 6/22/2001<br>Victor A. McKusick - updated : 12/18/2000<br>Stylianos E. Antonarakis - updated : 12/14/2000<br>Victor A. McKusick - updated : 9/1/2000<br>Victor A. McKusick - updated : 6/5/2000<br>Victor A. McKusick - updated : 1/19/2000<br>Victor A. McKusick - updated : 12/16/1999<br>Victor A. McKusick - updated : 11/18/1999<br>Michael J. Wright - updated : 10/28/1999<br>Victor A. McKusick - updated : 8/31/1999<br>Victor A. McKusick - updated : 4/28/1999<br>Victor A. McKusick - updated : 2/14/1999<br>Victor A. McKusick - updated : 2/3/1999<br>Victor A. McKusick - updated : 6/10/1998<br>Victor A. McKusick - updated : 10/10/1997<br>Victor A. McKusick - updated : 6/21/1997<br>Victor A. McKusick - updated : 3/16/1997<br>John A. Phillips, III - updated : 10/30/1996<br>Orest Hurko - updated : 2/5/1996
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Victor A. McKusick : 6/2/1986
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alopez : 05/20/2024
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carol : 04/05/2024<br>alopez : 04/03/2024<br>alopez : 11/18/2022<br>carol : 06/29/2022<br>carol : 06/27/2022<br>carol : 06/21/2022<br>carol : 06/20/2022<br>carol : 06/09/2022<br>carol : 04/19/2022<br>carol : 01/20/2022<br>carol : 08/16/2019<br>carol : 06/21/2019<br>carol : 06/18/2018<br>carol : 06/15/2018<br>alopez : 06/14/2018<br>carol : 08/23/2016<br>joanna : 08/23/2016<br>carol : 07/09/2016<br>carol : 7/9/2016<br>alopez : 1/20/2015<br>carol : 9/10/2014<br>alopez : 12/3/2012<br>alopez : 12/3/2012<br>alopez : 7/6/2012<br>terry : 4/10/2012<br>alopez : 2/29/2012<br>wwang : 11/2/2010<br>ckniffin : 10/22/2010<br>wwang : 8/25/2010<br>ckniffin : 8/16/2010<br>terry : 4/1/2010<br>alopez : 2/19/2010<br>alopez : 2/19/2010<br>alopez : 2/18/2010<br>alopez : 2/18/2010<br>alopez : 11/5/2009<br>joanna : 10/29/2009<br>alopez : 10/29/2009<br>wwang : 3/18/2009<br>ckniffin : 3/9/2009<br>terry : 2/9/2009<br>terry : 2/9/2009<br>terry : 2/9/2009<br>terry : 2/6/2009<br>carol : 1/14/2009<br>carol : 1/8/2009<br>carol : 7/3/2008<br>wwang : 2/6/2008<br>terry : 2/5/2008<br>terry : 2/5/2008<br>carol : 2/5/2008<br>joanna : 2/5/2008<br>alopez : 7/5/2007<br>carol : 1/4/2006<br>ckniffin : 12/21/2005<br>mgross : 1/10/2005<br>carol : 7/21/2004<br>terry : 7/20/2004<br>tkritzer : 5/18/2004<br>terry : 5/12/2004<br>carol : 5/5/2004<br>terry : 5/3/2004<br>carol : 4/30/2004<br>carol : 4/16/2004<br>carol : 3/17/2004<br>tkritzer : 9/8/2003<br>ckniffin : 9/3/2003<br>carol : 8/8/2003<br>ckniffin : 8/6/2003<br>cwells : 5/9/2003<br>cwells : 3/18/2003<br>alopez : 2/25/2003<br>terry : 2/13/2003<br>carol : 1/31/2003<br>terry : 1/30/2003<br>cwells : 1/27/2003<br>tkritzer : 1/22/2003<br>carol : 1/7/2003<br>cwells : 11/26/2002<br>ckniffin : 11/13/2002<br>carol : 11/5/2002<br>cwells : 7/2/2002<br>carol : 6/17/2002<br>ckniffin : 6/11/2002<br>ckniffin : 6/11/2002<br>ckniffin : 6/11/2002<br>terry : 6/10/2002<br>carol : 1/19/2002<br>mcapotos : 1/15/2002<br>terry : 1/9/2002<br>cwells : 1/9/2002<br>cwells : 1/3/2002<br>terry : 12/21/2001<br>joanna : 12/21/2001<br>terry : 11/9/2001<br>alopez : 10/10/2001<br>terry : 10/9/2001<br>mcapotos : 7/5/2001<br>mcapotos : 6/26/2001<br>terry : 6/22/2001<br>terry : 3/21/2001<br>mcapotos : 1/4/2001<br>mcapotos : 1/2/2001<br>terry : 12/18/2000<br>mgross : 12/14/2000<br>mcapotos : 9/1/2000<br>mcapotos : 6/14/2000<br>mcapotos : 6/12/2000<br>terry : 6/5/2000<br>mcapotos : 1/27/2000<br>mcapotos : 1/21/2000<br>terry : 1/19/2000<br>alopez : 1/14/2000<br>mgross : 1/10/2000<br>terry : 12/16/1999<br>mgross : 12/7/1999<br>terry : 11/18/1999<br>alopez : 10/28/1999<br>jlewis : 8/31/1999<br>terry : 5/20/1999<br>carol : 5/12/1999<br>terry : 5/11/1999<br>alopez : 5/10/1999<br>terry : 4/28/1999<br>mgross : 3/16/1999<br>carol : 2/14/1999<br>carol : 2/12/1999<br>terry : 2/3/1999<br>terry : 6/18/1998<br>carol : 6/10/1998<br>dholmes : 6/10/1998<br>alopez : 5/14/1998<br>alopez : 12/16/1997<br>mark : 10/16/1997<br>terry : 10/10/1997<br>alopez : 7/30/1997<br>alopez : 7/16/1997<br>alopez : 7/10/1997<br>jenny : 7/9/1997<br>terry : 6/24/1997<br>alopez : 6/23/1997<br>terry : 6/21/1997<br>mark : 3/16/1997<br>terry : 3/10/1997<br>terry : 1/24/1997<br>terry : 1/22/1997<br>terry : 11/21/1996<br>jamie : 11/15/1996<br>jamie : 11/6/1996<br>jamie : 10/30/1996<br>mark : 7/9/1996<br>carol : 4/22/1996<br>carol : 4/19/1996<br>terry : 4/19/1996<br>mark : 4/18/1996<br>terry : 4/11/1996<br>mark : 2/19/1996<br>terry : 2/15/1996<br>terry : 2/6/1996<br>mark : 2/5/1996<br>terry : 1/30/1996<br>mark : 1/24/1996<br>mark : 1/22/1996<br>mark : 9/17/1995<br>terry : 4/19/1995<br>mimadm : 2/25/1995<br>carol : 1/31/1995<br>davew : 8/1/1994<br>warfield : 4/21/1994
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 176300
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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TRANSTHYRETIN; TTR
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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PREALBUMIN, THYROXINE-BINDING; TBPA<br />
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PALB
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</h4>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: TTR</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 18q12.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 18:31,591,877-31,598,821 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="3">
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<span class="mim-font">
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18q12.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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[Dystransthyretinemic hyperthyroxinemia]
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</span>
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</td>
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<td>
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<span class="mim-font">
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145680
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Amyloidosis, hereditary, transthyretin-related
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</span>
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</td>
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<td>
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<span class="mim-font">
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105210
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Carpal tunnel syndrome, familial
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</span>
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</td>
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<td>
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<span class="mim-font">
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115430
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Transthyretin (TTR) is an evolutionarily conserved serum and cerebrospinal fluid (CSF) protein that transports holo-retinol-binding protein (RBP; 180250) and thyroxine (T4). It is a homotetrameric protein synthesized mainly in liver, choroid plexus, retinal pigment epithelium, and pancreas. Mutant and wildtype TTR give rise to various forms of amyloid deposition (amyloidosis), originally defined pathologically by the formation and aggregation of misfolded proteins which result in extracellular deposits that impair organ function. The clinical syndromes associated with TTR aggregation are familial amyloid polyneuropathy (FAP) and cardiomyopathy (FAC), in which mutant TTR protein aggregates in peripheral and autonomic nerves and heart, respectively; and senile systemic amyloidosis (SSA), a late-onset disorder in which wildtype protein deposits primarily in heart, but also in gut and carpal tunnel (summary by Buxbaum and Reixach, 2009). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>This normal plasma protein was originally called 'prealbumin' or 'thyroxine-binding prealbumin' because it migrates ahead of albumin on standard protein electrophoresis. However, it has no structural relationship to albumin. Use of the term 'transthyretin' is recommended to avoid possible confusion with proalbumin (103600) and with other 'prealbumins.' The name transthyretin refers to the transport properties of the protein, which binds both thyroxine and retinol-binding protein (summary by Benson, 2001).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using direct amino acid sequence analysis, Kanda et al. (1974) determined the complete sequence of plasma thyroxine-binding prealbumin (transthyretin). </p><p>Mita et al. (1984) isolated transthyretin-specific cDNA clones from an adult human liver cDNA library. The mature protein consists of 127 residues after cleavage of a 20-amino acid signal peptide. Results were in agreement with those of Kanda et al. (1974). </p><p>Whitehead et al. (1984) isolated transthyretin-specific cDNA clones from an adult human liver library and found that the nucleotide sequence was identical to that reported by Mita et al. (1984). Wallace et al. (1985) likewise isolated a cDNA clone. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transthyretin molecule consists of a tetramer of identical 127-amino acid subunits. Transthyretin is a plasma transport protein for thyroxine (T4) and for retinol (vitamin A), through the association with retinol-binding protein (see RBP4, 180250) (summary by Saraiva, 2001). </p><p>Episkopou et al. (1993) demonstrated that the TTR protein maintains normal levels of retinol, retinol-binding protein, and thyroid hormone in the circulating plasma. Using gene targeting techniques, they generated a null mutation at the mouse Ttr locus. Although the resultant mutant animals were phenotypically normal, viable and fertile, they had significantly depressed levels of these serum metabolites. </p><p>Shirahama et al. (1982) reported that prealbumin is a constituent common to the neuritic plaques, neurofibrillary tangles, and microangiopathic lesions of senile cerebral amyloid. TTR represents a disproportionate fraction (25%) of CSF protein, prompting the suggestion that it is either selectively transported across the blood-CSF barrier or synthesized de novo within the central nervous system (CNS). Herbert et al. (1986) demonstrated that the latter is the case and that the epithelial cells of the choroid plexus are the site of synthesis in both rats and humans. It is curious that in amyloid polyneuropathy, amyloid deposits do not occur in the CNS, with the exception of the blood vessels. Within the CNS, TTR is the only known protein synthesized solely by the choroid plexus. </p><p>As reviewed by Ray and Lansbury (2004), TTR encodes a tetrameric protein that is responsible for carrying thyroxine (T4) in plasma and CSF. Two equivalents of T4 bind in symmetry-related sites in the central cavity of TTR. T4 binding stabilizes the TTR tetramer and slows the rate of tetramer dissociation, which is the rate-determining step of in vitro TTR fibril formation. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Whitehead et al. (1984) and Wallace et al. (1985) independently assigned the PALB gene to chromosome 18 by analysis of somatic cell hybrid panels. </p><p>Using a human genomic probe in the study of mouse-human somatic cell hybrids and by in situ hybridization, Sparkes et al. (1987) assigned the human PALB gene to chromosome region 18q11.2-q12.1. Jinno et al. (1986) performed Southern analyses in various chromosome 18 abnormalities and, by gene dosage effect, assigned the TTR gene to 18p11.1-q12.3, most likely to 18cen-q12.3. </p><p>Using molecular probes in the analysis of an interspecific backcross between C57BL/6J and Mus spretus, Justice et al. (1992) demonstrated that the prealbumin gene is located on mouse chromosome 18. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Crystal Structure</em></strong></p><p>
|
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Eneqvist et al. (2000) found that the structure of the highly amyloidogenic TTR triple mutant gly53 to ser/glu54 to asp/leu55 to ser determined at 2.3-angstrom resolution revealed a novel conformation, the beta slip. A 3-residue shift in beta strand D placed leu58 at the position normally occupied by leu55, now mutated to ser. The beta slip was best defined in 2 of the 4 monomers, where it made new protein-protein interactions to an area normally involved in complex formation with retinol-binding protein. This interaction created unique packing arrangements, where 2 protein helices combined to form a double helix in agreement with fiber diffraction and electron microscopy data. Based on these findings, a novel model for transthyretin amyloid formation was presented. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Dystransthyretinemic Hyperthyroxinemia</em></strong></p><p>
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Substitutions at codon 109 of transthyretin (A109T, 176300.0015; A109V, 176300.0038) have been identified in individuals with dystransthyretinemic hyperthyroxinemia (DTTRH; 145680), and lead to an increase in the affinity for thyroxine (Saraiva, 2001). </p><p><strong><em>Hereditary Systemic Amyloidosis 1</em></strong></p><p>
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Many distinct forms of amyloidosis (AMYLD1; 105210) have been related to different point mutations in the 127-amino acid TTR. In most of these, inheritance is autosomal dominant; homozygosity has been reported in the val30-to-met (V30M; 176300.0001) and val122-to-ile (V122I; 176300.0009) mutations.</p><p>Refetoff et al. (1986) studied T4 binding by 4 prealbumin variants associated with amyloid polyneuropathy. They found that the TBPAs from subjects with types 1 and 2 familial amyloid polyneuropathy (shown to have substitutions at amino acids 30 and 84, respectively) have a relatively low affinity for T4. The authors felt, however, that hypothyroidism in these patients is probably due to the fortuitous occurrence of Hashimoto thyroiditis and/or the partial destruction of the thyroid gland by amyloid deposits. </p><p>Benson (1991) reviewed the hereditary amyloidoses and listed 10 TTR mutations associated with amyloidosis together with restriction enzymes which are useful for DNA diagnosis in 8 of the cases. In the other 2 cases, allele-specific PCR must be used. </p><p>Ii and Sommer (1993) suggested that founder effect can be rejected as the cause of the high frequency of the val30-to-met mutation (V30M; 176300.0001) in familial amyloid polyneuropathy (FAP). In a sample of 11 unrelated North American patients, they found this mutation in 6. Since relatives were not available, they used the PCR-based method called double-PASA (Sarkar and Sommer, 1991) to determine the haplotypes. In the 6 patients with the V30M mutation, 4 different haplotypes were observed. Ii and Sommer (1993) speculated on why a late-onset disorder such as this, which should interfere little with reproduction, should lack evidence of founder effect. They suggested that the mutation rate for V30M is probably the highest among the FAP TTR mutations because it is the only one that occurs in a CpG dinucleotide. Reilly et al. (1995) also found haplotype evidence for multiple founders in a sampling of European patients with familial amyloid polyneuropathy. </p><p>Saraiva (1995) tabulated more than 40 different mutations in the TTR gene associated with amyloid deposition. She pointed to the problem of correlating the clinical heterogeneity with the genetic heterogeneity. Saraiva (1995) observed that most of the mutations are neuropathic, but only some give rise to cardiomyopathy or to vitreous opacities. Saraiva (2001) stated that over 80 different disease-causing mutations in the TTR gene had been reported. Only a small proportion of TTR mutations are apparently nonamyloidogenic. Among these are mutations responsible for hyperthyroxinemia. Compound heterozygous individuals have been described; noteworthy is the clinically protected effect exerted by a nonpathogenic mutation over a pathogenic mutation, which in the usual heterozygous state would result in amyloid deposition. </p><p>In 13 patients with systemic amyloidosis in whom a diagnosis of the acquired monoclonal immunoglobulin light-chain type (AL; see 254500) had been made on the basis of clinical and laboratory findings and by the absence of a family history, Lachmann et al. (2002) found heterozygosity for point mutations in the TTR gene (see, e.g., 176300.0001, 176300.0004, and 176300.0009); 3 of the mutations represented previously undescribed variants. All 13 of the patients presented with cardiac amyloidosis and variable degrees of autonomic and peripheral neuropathy. Scintigraphy with radioiodine-labeled serum amyloid P component (104770), a technique for quantitatively imaging amyloid deposits in vivo in cases of AL amyloidosis, revealed no amyloid deposits in the liver or bone in these cases; such deposits had not been noted in transthyretin-associated amyloidosis. </p><p>Ikeda et al. (2002) reviewed the diagnosis, epidemiology, clinical and genetic variability, and treatment options of familial amyloid polyneuropathy in Japan. The authors detailed the clinical findings associated with the common V30M mutation as well as the findings associated with other known mutations and concluded that there is wide variability in phenotype, even among those with the same genotype. </p><p>Hammarstrom et al. (2003) described a series of transthyretin amyloidosis inhibitors that functioned by increasing the kinetic barrier associated with misfolding, preventing amyloidogenesis by stabilizing the native state. The trans-suppressor mutation thr119 to met (176300.0018), which ameliorates familial amyloid disease, also functioned through kinetic stabilization, implying that this small-molecule strategy should be effective in treating amyloid diseases. </p><p>Soares et al. (2005) analyzed alleles of genes involved in either TTR function or amyloid deposits, including APCS (104770) and RBP4 (180250), for possible association with age of disease onset and/or susceptibility in Portuguese FAP patients with the V30M mutation (176300.0001) and unrelated controls. Estimates of genetic distance indicated that controls and the classic-onset group were furthest apart, whereas the late-onset group appeared to differ from both. The data also indicated that genetic interactions among the multiple loci evaluated, rather than single-locus effects, were more likely to determine differences in the age of disease onset. Multifactor dimensionality reduction indicated that the best genetic model for the classic-onset group versus controls involved the APCS gene, whereas for late-onset cases, 1 APCS variant (APCSv1) and 2 RBP variants (RBPv1 and RBPv2) were involved. Soares et al. (2005) concluded that although the V30M mutation was required for the disease in Portuguese patients, different genetic factors may govern the age of onset, as well as the occurrence of anticipation. </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>The D18G (176300.0047) and A25T (176300.0051) variants of TTR are associated with the leptomeningeal form of amyloidosis (see 105210), specifically targeting the central nervous system with minimal or absent visceral involvement. Sekijima et al. (2005) demonstrated that a choroid plexus cell line was more permissive in its ability to secrete the highly destabilized A25T TTR variant compared to BHK or MMH cells and that in BHK cells secretion of A25T and D18G was sensitive to T4 (metabolite) chaperoning. Secretion by choroid plexus cells may increase the extracellular concentration and rate of A25T TTR amyloidogenesis in the CNS. In contrast, murine hepatic cells secreted A25T TTR at significantly lower levels, perhaps due to lower levels of T4, resulting in lack of visceral involvement. The most highly destabilized TTR variants, such as D18G, were retained in the endoplasmic reticulum (ER) and likely targeted for ER-associated degradation (ERAD), leading to low secretion levels. More stable variants like L55P (105210.0022) were not targeted for ERAD, and can be secreted at near-wildtype levels. Sekijima et al. (2005) suggested that tissue-specific differences determine which pathogenic variants are targeted for ERAD and which are secreted. </p>
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<strong>Evolution</strong>
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<p>Human evolution is characterized by a dramatic increase in brain size and complexity. To probe its genetic basis, Dorus et al. (2004) examined the evolution of genes involved in diverse aspects of nervous system biology. These genes, including TTR, displayed significantly higher rates of protein evolution in primates than in rodents. This trend was most pronounced for the subset of genes implicated in nervous system development. Moreover, within primates, the acceleration of protein evolution was most prominent in the lineage leading from ancestral primates to humans. Dorus et al. (2004) concluded that the phenotypic evolution of the human nervous system has a salient molecular correlate, i.e., accelerated evolution of the underlying genes, particularly those linked to nervous system development. </p>
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<strong>History</strong>
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<p>The prealbumins, serum proteins which migrate faster than albumin in acidic starch gels, include alpha-1-antitrypsin (107400), thyroxine-binding prealbumin, and orosomucoid, an alpha-1-acid glycoprotein (138600). Polymorphism of prealbumin is known in the mouse and pig (reviewed by Lush, 1966) and in monkeys (Rall, 1977). Fagerhol and Braend (1965, 1966) demonstrated polymorphism of serum prealbumin by starch gel electrophoresis and presented family data supporting genetic control by 3 codominant alleles. This polymorphism was later shown by Fagerhol and Laurell (1967) to be identical to alpha-1-antitrypsin. </p><p>Using isotopic in situ hybridization, Qiu et al. (1992) mapped the Ttr gene to mouse chromosome 4. The mouse cDNA probe used was that of Wakasugi et al. (1985). </p>
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<strong>ALLELIC VARIANTS</strong>
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<strong>52 Selected Examples):</strong>
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<strong>.0001 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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TTR, VAL30MET
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SNP: rs28933979,
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gnomAD: rs28933979,
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ClinVar: RCV000014359, RCV000159423, RCV000770555, RCV001173292, RCV002390106, RCV002476964, RCV004549361
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<p>Amyloid neuropathy resulting from a val30-to-met (V30M) mutation in transthyretin has been classified as familial amyloid polyneuropathy type I (FAP I; see AMYLD1, 105210). This mutation has been identified in many kindreds in Portugal and Japan, and also in American kindreds of Swedish, English, and Greek origin. It has also been identified in Turkey, Majorca, Brazil, France, and England (Benson, 2001). Both FAP I as a general clinical entity and FAP resulting from the V30M mutation have been referred to as hereditary amyloidosis Portuguese type, Portuguese-Swedish-Japanese type, or Andrade type.</p><p><strong><em>Portuguese Patients</em></strong></p><p>
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Andrade (1952) described kindreds with familial amyloidotic polyneuropathy (AMYLD1; 105210) from northern Portugal. Saraiva et al. (1984) demonstrated that the molecular basis of the disorder in these kindreds is a valine-to-methionine substitution at residue 30 of transthyretin (V30M). Saraiva (2001) reported that over 500 kindreds had been identified in Portugal, constituting the largest focus of FAP worldwide. </p><p>In the Andrade type of hereditary amyloid neuropathy, observed predominantly in persons from the northern coastal provinces of Portugal and in their Brazilian relatives, neuropathic manifestations begin and predominate in the legs, leading to the popular designation of 'foot disease,' or 'doenca dos pezinhos' in Portugal (Lourenco, 1980). Onset is between age 20 and 30 years and death occurs 7 to 10 years later.</p><p>Saraiva et al. (1983) found that plasma levels of TTR are reduced in patients with Portuguese amyloidosis, that levels of retinol-binding protein and vitamin A transport appear to be normal, that the abnormal TTR in the tissues of patients has a substitution of methionine for valine at position 30, and that the abnormal TTR is present in small amounts in the plasma of patients. A GUG-to-AUG change would account for the amino acid change. Tawara et al. (1983) found the methionine-for-valine substitution at position 30 in Japanese cases and Dwulet and Benson (1984) found it in a Swedish case (Benson and Cohen, 1977). </p><p>Saraiva et al. (1986) found that the same val-to-met substitution at position 30 of transthyretin was present in plasma in asymptomatic persons from a Portuguese family with unusually late onset of clinical manifestations. The factors responsible for the delay in onset were not known. </p><p><strong><em>Swedish Patients</em></strong></p><p>
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A considerable number of cases of amyloid neuropathy were reported from northern Sweden (Andersson, 1970; Andersson and Hofer, 1974). In a Swedish form, later proven by molecular methods to be identical to the Portuguese type, Benson (1980) found evidence of relationship of the amyloid to serum prealbumin. </p><p>Dwulet and Benson (1984) found substitution of methionine for valine at position 30 in the plasma prealbumin and associated amyloid fibril subunit protein from a Swedish patient with familial amyloid polyneuropathy. The abnormal protein accounted for one-third of plasma prealbumin and two-thirds of the amyloid fibrils. </p><p>It seems well established that the clinical picture differs in persons from different genetic backgrounds. For example, the methionine-30 mutation in a U.S. family of English descent invariably produces cardiomyopathy, whereas among the Swedes the same mutation is rarely accompanied by cardiomyopathy and instead shows the kidneys as the main target, with patients dying of renal failure. Holmgren et al. (1988) found the same V30M mutation in TTR in 17 Swedish patients with FAP as seen in patients with FAP from Japan and Portugal and in FAP patients of Swedish extraction in the U.S. Curiously, however, the mean age of onset of FAP symptoms for the 17 Swedish patients was significantly later than for the patients from Japan, Portugal, and the U.S. </p><p>The relatively high frequency of this form of amyloid polyneuropathy in Sweden is indicated by the study of Drugge et al. (1993). Since the first Swedish patients were reported in 1968, more than 230 cases had been diagnosed. The study of Drugge et al. (1993) included 239 patients: 109 patients were linked to 5 large pedigrees and 80 patients belonged to 30 smaller pedigrees or nuclear families. In the remaining 50 cases, no genealogic links were found. Differences in mean age of onset were found both between pedigrees and within pedigrees. They found a tendency for earlier age of onset among patients with a carrier mother than among those with a carrier father. </p><p>Holmgren et al. (1994) stated that more than 350 patients with clinical manifestations of FAP had been diagnosed in northern Sweden, most of them originating from the areas around Skelleftea and Pitea. The mean age of onset was 56 years, much later than in patients from Japan and Portugal. To estimate the frequency of the met30 mutation in the counties of Vasterbotten and Norrbotten, sera from 1,276 persons aged 24 to 65 years, randomly sampled from a health program, were screened with a monoclonal antibody. In an ELISA test using this antibody, a positive reaction was seen in 19 persons. DNA analysis confirmed the presence of the met30 mutation and showed that 18 were heterozygous and 1 homozygous for the mutation. The mean TTR met30 carrier frequency in the area was 1.5%, ranging from 0.0 to 8.3% in 23 subpopulations. Holmgren et al. (1994) referred to 6 previously reported Swedish homozygotes for this mutation as well as to Turkish, Japanese, and Portuguese homozygotes. The clinical picture in homozygotes appeared to be the same as in heterozygotes. In the Swedish study, the penetrance of the met30 mutation showed considerable variation between families, and the overall diagnostic (predicted) value was as low as approximately 2%. </p><p><strong><em>Japanese Patients</em></strong></p><p>
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Araki et al. (1968) reported a kindred from southern Japan with many members affected. Kito et al. (1973) described the second largest concentration of this disorder at Ogawa Village in central Japan, a region notorious as a center of so-called leprosy for several hundred years. The location in Japan makes it unlikely that this was the Portuguese gene; some of the families of amyloid neuropathy seen elsewhere may, however, have a gene introduced by Portuguese. Although the cases of Kito et al. (1980) resembled the Andrade type clinically, immunoglobulin peculiarities suggested a difference. Kito et al. (1980) reported improvement with dimethyl sulfoxide (DMSO) treatment. </p><p>Yoshioka et al. (1986) studied 25 FAP patients from 2 areas of Japan; 20 were from Ogawa village and 5 from Arao City. All of them were found to have the valine-to-methionine change at position 30. In addition, in 1 patient, Yoshioka et al. (1986) determined the complete nucleotide sequence of the prealbumin gene. In comparison with the normal, the patient's gene was found to be carrying 7 basepair substitutions. The substitution responsible for the val-to-met change was found in exon 2, as expected, and the others were polymorphic changes in introns. </p><p>Ochiai et al. (1986) described a sporadic case of amyloid polyneuropathy in which the abnormal serum prealbumin typical of the Japanese form of FAP was not found in the serum and the characteristic DNA change was not found. Although it was suggested by the authors that this was a systemic form of senile amyloidosis, it seems more likely that this was a new mutation for a different type of prealbumin change. </p><p>Furuya et al. (1987) studied a Japanese family in which patients with amyloid polyneuropathy also showed cerebellar ataxia and pyramidal tract signs. The authors found a substitution of methionine for valine at position 30 of TTR, the same mutation as that in the Andrade variety. A submicroscopic deletion with creation of a 'contiguous gene syndrome' was suggested as a possibility to explain the central nervous system (CNS) dysfunction, but close linkage of another mutation giving rise to spinocerebellar ataxia was considered a more likely explanation. Ikeda et al. (1996) detected expansion of a CAG repeat in the spinocerebellar ataxia-1 gene (ATXN1; 601556) in members with CNS dysfunction, some of whom also had a TTR mutation, demonstrating coexistence of FAP and SCA1 in this family. Oide et al. (2004) confirmed at the pathologic level that the disorder in this Japanese family, also known as Iiyama-type FAP, was caused by the incidental coexistence of 2 autosomal dominantly inherited neurologic disorders, amyloid polyneuropathy and spinocerebellar ataxia-1. </p><p>Imaizumi (1989) pointed out that survival in this disorder in Japan appeared to have increased appreciably, with death occurring at a later age. He granted the possibility that improved recognition of cases may have been responsible. </p><p>In 6 Japanese families with the val-to-met mutation, Yoshioka et al. (1989) identified 3 distinct haplotypes. Furthermore, they found that the val-to-met mutation can be explained by a C-to-T transition at a CpG dinucleotide mutation hotspot. This approach permitted them to examine the question of whether the mutation in Japan was introduced by Portuguese. They concluded that it was more likely that the familial amyloid polyneuropathy in Japanese families arose as an independent mutation. </p><p>Misu et al. (1999) analyzed the clinicopathologic and genetic features of late-onset FAP TTR met30 patients in 35 families in Japan, particularly those unrelated to the endemic areas of Japan, and compared them with the cases of early-onset FAP TTR met30 patients in endemic areas. Onset was after 50 years of age in most with paresthesias in the legs. Autonomic symptoms were generally mild and did not seriously affect daily activities. The male-to-female ratio was very high (10.7:1). Asymptomatic carriers, predominantly female, were detected relatively late in life. A family history was evident in only 11 of 35 families, and other patients were apparently sporadic. The rate of penetrance was very low. Symptomatic sibs of familial cases showed a late age of onset, male preponderance, and clinical features similar to those of the probands. The geographic distribution of these late-onset, FAP TTR met30 cases was scattered throughout Japan. In 3 autopsy cases and 20 sural nerve biopsy specimens, neurons in sympathetic and sensory ganglia were relatively preserved. Amyloid deposition was seen in the peripheral nervous system, particularly in the sympathetic ganglia, dorsal root ganglia, and proximal nerve trunks such as sciatic nerve. These abnormalities were milder than those seen in typical early-onset FAP TTR met30, as observed in 2 endemic foci of this disease in Japan: Arao City in Kumamoto Prefecture and Ogawa Village in Nagano Prefecture. While axonal degeneration was prominent in myelinated fibers, resulting in severe fiber loss, unmyelinated fibers were relatively preserved. Possible explanations for the differences were explored. </p><p>Yoshioka et al. (2001) found homozygosity for the val30-to-met mutation in a 56-year-old Japanese man who had a motor-dominant sensorimotor polyneuropathy and unusual sural nerve pathologic findings. He lived in Nakajima, Ishikawa Prefecture, which is believed to be a nonendemic area for type I familial amyloidotic polyneuropathy. In addition to motor-dominant sensorimotor polyneuropathy, he had vitreous amyloidosis, erectile dysfunction, and urinary incontinence; however, he had neither orthostatic hypotension nor indolent diarrhea. Five members of his family were found to be heterozygous for the val30-to-met mutation but there was no family history of a similar neurologic disorder. The sural nerve biopsy showed focal edema and an amyloid deposit in the subperineural tissue, associated with moderate loss of myelinated and unmyelinated fibers. In the patient reported by Yoshioka et al. (2001), the first clinical symptom was vitreous amyloidosis, observed when he was 45 years old. This age of onset was younger than the average reported by Yoshinaga et al. (1994) in 3 sibs homozygous for this mutation in whom the mean age at onset was 57.3 years. The patient had distally predominant muscle atrophy and marked fasciculation. In general, patients homozygous for the val30-to-met mutation do not appear to suffer from more severe disease (Holmgren et al., 1992), and asymptomatic homozygous val30-to-met gene carriers have been described (Ikeda et al., 1992). Variability with this and other TTR mutations may be due to the fact that they merely set the stage for amyloid fibril formation. The factors interplay to determine the final consequence of the mutation. </p><p>Koike et al. (2002) presented 82 Japanese families with early-onset FAP TTR met30 and 59 families with late onset. In families with late onset, neuropathy showed male predominance, low penetrance, little relationship to endemic foci, sensorimotor symptoms beginning distally in the lower extremities with disturbance of both superficial and deep sensation, and relatively mild autonomic symptoms. Families with early onset showed higher penetrance, concentration in 2 endemic foci, predominant loss of superficial sensation, severe autonomic dysfunction, and atrioventricular nodal block requiring pacemaker implantation. </p><p><strong><em>Other Ethnic Groups</em></strong></p><p>
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Saraiva et al. (1986) found the met30 mutation in a Greek family with FAP; thus, it has been identified in Portuguese, Japanese, Swedish and Greek persons. </p><p>Saraiva et al. (1988) showed that the change in TTR in 2 Italian kindreds with amyloid polyneuropathy was not a substitution of methionine at position 30. </p><p>In a study of 13 European families, Holt et al. (1989) found that all 8 Cypriot families with familial amyloid polyneuropathy had the val30-to-met mutation as did 1 Greek family and 1 French family. Another French family and 1 British and 1 Italian family did not show the met30 mutation. Patients from 7 of the 10 kindreds with the met30 mutation were not known to have genetic disease before the study, which demonstrated the mutation in 16 of 43 clinically unaffected relatives; 2 of these were over 50 years of age. </p><p><strong><em>Diagnosis</em></strong></p><p>
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Studying Japanese cases of the val30-to-met mutation that had been found in Portuguese cases, Sasaki et al. (1984) demonstrated that direct gene diagnosis is possible. The nucleotide substitution results in new restriction sites when the restriction enzymes BalI and NsiI are used. Sasaki et al. (1985) described presymptomatic diagnosis of heterozygosity for familial amyloidotic polyneuropathy by recombinant DNA techniques. </p><p>Nakazato et al. (1984) developed a radioimmunoassay based on a nonapeptide (positions 22-30) of the prealbumin variant. Five-microliter serum was treated with cyanogen bromide followed by trypsin before RIA. They found the variant and normal prealbumins to be present in a ratio of 1:1 in 8 biopsy-proven cases. High levels of variant were present regardless of duration of disease. Affected persons could be distinguished from unaffected relatives in the preclinical period. In Japanese cases of 30 valine-to-methionine amyloidosis, Nakazato et al. (1985) could diagnose the disorder in asymptomatic children by an immunologic method specific for the variant prealbumin. With a radioimmunoassay for the variant TTR (with methionine substituted for valine-30), Nakazato et al. (1986) demonstrated the presence of the gene in 9 symptom-free children of affected persons and its absence in 15 other children. </p><p>Benson and Dwulet (1985) described a method for identifying affected persons with the methionine-30 defect in the preclinical stages.</p><p>Whitehead et al. (1984) found that the val30-to-met mutation creates a unique NsiI restriction site in the prealbumin gene of these patients. Saraiva et al. (1985) documented the predictive value of finding the met30 mutation in the plasma. </p><p>In 2 cases of familial amyloid polyneuropathy from different families and apparently of non-Portuguese ancestry, living in upstate New York, Koeppen et al. (1985) found immunologic indications that the amyloid fibrils were of transthyretin origin. Peptide fragments of fibronectin were also detected in the fibrils but no amyloid P protein. </p><p>Maeda et al. (1986) found that the 2 types of mRNA, mutant and wildtype, are approximately equal in the liver of a heterozygote. </p><p>Using PCR-amplified DNA, Almeida et al. (1990) performed prenatal diagnosis on 2 at-risk fetuses. The met30 mutation was detected in the amniotic fluid of a DNA-positive fetus whose father was a carrier. Morris et al. (1991) reported diagnosis of the val30-to-met mutation in a fetus on the basis of DNA studies of chorion villus samples; the parents chose to continue the pregnancy. </p><p><strong><em>Homozygosity</em></strong></p><p>
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Holmgren et al. (1988) presented molecular evidence for homozygosity for the met30 mutation of TTR in 2 Swedish sibs. The proband, a 56-year-old man, had typical manifestations; his older sister likewise appeared to be homozygous but had no evidence of FAP and no demonstrable amyloid deposits on skin biopsy. In 2 members of a Turkish family with FAP, Skare et al. (1990) found homozygosity for the val30-to-met mutation. The parents of these 2 were not consanguineous and there was no history of abnormality in the ancestors. Both sons of 1 of the men had 1 normal TTR gene and 1 met30 TTR gene. The 2 affected brothers had onset in their early fifties. Skare et al. (1990) cited observations in Sweden where about 3% of the population in 1 region are met30 heterozygotes and some of these heterozygotes have been demonstrated to live to age 80 without developing symptoms; 15 of 35 Swedish FAP patients had no family history of FAP. Holmgren et al. (1992) presented clinical data on 7 homozygotes, including 3 new cases. They were 59 to 74 years of age, and onset of symptoms had been at 52 to 65 years of age. Two of them were sibs, one of whom was still healthy at the age of 64 years. Three of the patients had no relatives with FAP. The progress of symptoms was the same as that seen among patients heterozygous for the val30-to-met mutation. Thus, like Huntington disease (143100), this disorder may be a complete dominant. </p><p>In a 15-year follow-up of 9 Swedish FAP patients who were homozygous for the V30M mutation, Holmgren et al. (2005) found that all developed vitreous amyloidosis, which was the presenting feature in 4 patients. In 2 patients, vitreous amyloidosis was the only FAP manifestation. Although the mean age at onset was similar to that of 35 heterozygous V30M patients (approximately 55 years), the homozygous patients had a longer survival (17 and 12 years, respectively). Holmgren et al. (2005) concluded that homozygosity for the V30M mutation does not implicate a more severe phenotype for Swedish FAP patients. </p><p><strong><em>Origin of Mutation</em></strong></p><p>
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By analyzing the decay of haplotype sharing among 60 patients with the V30M mutation from Portugal, Sweden, and Brazil, Zaros et al. (2008) estimated the most recent common ancestor in Portuguese and Brazilian patients to have lived 750 and 650 years ago, respectively. The most recent common ancestor estimated for Swedish patients was 375 years ago. The findings supported the Portuguese origin of the mutation among Brazilians and confirmed the hypothesis that the mutation arose independently in Sweden. </p><p><strong><em>Clinical Manifestations</em></strong></p><p>
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Ducla-Soares et al. (1994) studied 47 individuals with amyloid polyneuropathy of the Portuguese type carrying the val30-to-met mutation in TTR and found that autonomic dysfunction was the first manifestation in a significant proportion of patients, frequently preceding standard clinical neurologic or electroneurodiagnostic abnormalities. </p><p>In a patient with leptomeningeal amyloidosis characterized by fluctuating mental status, myelopathy, and enhanced, thickened meninges on MRI, Herrick et al. (1996) identified the V30M mutation. The authors noted the variable clinical manifestations of patients with this mutation. </p><p>Ando et al. (1997) performed ocular examinations in 37 FAP type I patients (with the met30 mutation) from once to 12 times over a period of 1 to almost 13 years. On initial examination, abnormal conjunctival vessels were observed in 75.5%, pupillary abnormalities in 43.2%, keratoconjunctivitis sicca in 40.5%, glaucoma in 5.4%, and vitreous opacity in 5.4%. All ocular manifestations increased with the progression of FAP, and the incidence of abnormal conjunctival vessels reached 100% during follow-up. The abnormal conjunctival vessels were detected by slit-lamp biomicroscopic examination and could be helpful in the diagnosis of FAP (Ando et al., 1992). </p><p>In a 62-year-old patient with cardiac and renal amyloidosis, whose predominant clinical feature was neuropathy, Lachmann et al. (2002) identified heterozygosity for the V30M mutation in the TTR gene. </p><p>Kimura et al. (2003) reviewed the clinical features and surgical outcomes of the treatment of secondary glaucoma associated with TTR-related familial amyloidotic polyneuropathy. Secondary glaucoma was detected in 24% of 49 patients in the series, although the incidence of secondary glaucoma in patients with the val30-to-met mutation (17%) was lower than for the other FAP genotypes. Of 20 glaucomatous eyes, amyloid deposition on the pupil and anterior surface of the lens was found in 18 eyes. Amyloid deposition was detected prior to the onset of glaucoma in 11 of 20 eyes. Surgical treatment of glaucoma was required in 15 out of 20 eyes. In 9 out of 11 eyes treated with trabeculectomy, intraocular pressure was well controlled during the follow-up period. Kimura et al. (2003) concluded that glaucoma is not a rare condition in patients with FAP, especially since liver transplantation enables patients with FAP to live longer. Careful observation of amyloid deposition along the pupil allowed the prediction of glaucoma onset. </p><p>In 37 patients with FAP, Koga et al. (2003) found vitreous opacities in 14 eyes of 9 patients. They found that the val30-to-met and tyr114-to-cys (176300.0011) mutations induced different types of vitreous opacities. However, vitreous surgery combined with phacoemulsification and implantation of an intraocular lens was a safe and useful treatment in these patients. The authors advised long-term follow-up of these patients postoperatively. </p><p><strong><em>Modification of Effect</em></strong></p><p>
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Anticipation, a phenomenon characterized by progressively earlier onset or increased severity of clinical symptoms in succeeding generations, was recognized in the V30M form of FAP in Portugal (Soares et al., 1999), Sweden (Drugge et al., 1993), and Japan (Tashima et al., 1995). Yamamoto et al. (1998) eliminated some of the possible sources of ascertainment biases described by Penrose (1948) in their study of the V30M form of FAP in Japanese kindreds, indicating that anticipation also occurs in this population. Anticipation has been associated with the dynamic expansion of trinucleotide repeats in several neurodegenerative disorders, such as Huntington disease, myotonic dystrophy, and fragile X syndrome. Soares et al. (1999) used the repeat expansion detection (RED) assay to screen affected members of Portuguese FAP kindreds for expansion of any of the 10 possible trinucleotide repeats. Nine generational pairs with differences in their age of onset greater than 12 years and a control pair with identical ages of onset were tested. No major differences were found in the lengths of the 10 trinucleotide repeats analyzed. The distribution of maximal repeat sizes was consistent with reported studies in unrelated individuals with no known genetic disease. Thus, no support was obtained for a role for trinucleotide repeat expansions as the molecular mechanism underlying anticipation in Portuguese FAP. </p><p>Munar-Ques et al. (1999) reported 2 pairs of proven monozygotic twins with the V30M mutation and reviewed data from 2 other pairs of presumed monozygotic twins who were discordant for age of onset and clinical features of FAP. By comparison with twin pairs with other mendelian disorders, Munar-Ques et al. (1999) concluded that in addition to modifier genes, there must be a significant contribution to the phenotype from nongenetic factors, either environmental or stochastic events. </p><p>To analyze factors contributing to the phenotypic variability of FAP, Soares et al. (2004) characterized variations within the wildtype and mutant V30M TTR genes and their flanking sequences from 170 Portuguese and Swedish carriers of V30M. They identified 10 new polymorphisms in the TTR untranslated regions, 8 resulting from single-base substitutions and 2 arising from insertion/deletions in dinucleotide repeat sequences. The data suggested that the onset of symptoms of FAP V30M may be modulated by an interval downstream of TTR on the accompanying noncarrier chromosome (defined by microsatellites D18S457 and D18S456). Soares et al. (2004) also identified the first instance of intragenic haplotype III associated with V30M FAP in the Portuguese population. </p>
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<h4>
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<span class="mim-font">
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<strong>.0002 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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TTR, PHE33ILE
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<br />
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SNP: rs121918068,
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ClinVar: RCV000014360
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</span>
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<span class="mim-text-font">
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<p>The amyloid polyneuropathy (AMYLD1; 105210) in a Jewish patient was said by Pras et al. (1981, 1983) to have substitution of glycine for threonine at position 49 and by Nakazato et al. (1984) to have substitution of isoleucine for phenylalanine at position 33 (F33I). According to Benson (1988), the assignment of the change at position 33 is well established. Benson (2001) noted that the F33I mutation was verified by DNA sequence studies, which failed to show any mutation at codon 49. Severe gastrointestinal involvement was present (Benson, 1991). This variant was referred to as familial amyloid polyneuropathy, Jewish type. </p>
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<h4>
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<span class="mim-font">
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<strong>.0003 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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TTR, LEU58HIS
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<br />
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SNP: rs121918069,
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ClinVar: RCV000014362, RCV000159437, RCV002444430
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</span>
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<span class="mim-text-font">
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<p>Substitution of histidine for leucine at position 58 (A-to-T change) of the TTR gene (L58H) results in the amyloid polyneuropathy (AMYLD1; 105210) observed in the large Maryland kindred of German extraction studied by Mahloudji et al. (1969) and thought by them on clinical grounds alone to have the same disorder as that reported by Rukavina et al. (1956); see 176300.0006. This was the first amyloidosis-producing mutation in TTR to be identified by direct sequencing after amplification of the gene by PCR. Nichols et al. (1989) demonstrated a T-to-A substitution at the second base of the codon for leucine 58 causing a change to histidine. Since the mutation did not result in a change in the restriction pattern of the prealbumin gene, Nichols et al. (1989) developed a new method for direct detection of single-base changes in genomic DNA using PCR and an allele-specific oligonucleotide primer. Mendell et al. (1990) diagnosed the defect in the Maryland/German type by allele-specific enzymatic amplification of genomic DNA to demonstrate the his58 mutation. </p><p>Hund et al. (2001) noted that the Maryland/German type of familial amyloid polyneuropathy (described by Mahloudji et al. (1969) and resulting from a L58H substitution) had been classified as familial amyloid polyneuropathy type II (FAP II). FAP II is characterized by a course of disease with polyneuropathy beginning at the hands and frequent carpal tunnel syndrome operations. Benson (2001) noted that in FAP resulting from the L58H mutation, death is frequently caused by cardiomyopathy. The Maryland/German type is distinguished from the Indiana/Swiss type (176300.0006) by a lack of vitreous opacities. </p><p>Although they also lived in the Maryland area, the family originally reported by Shulman and Bartter (1956), Kaufman (1958), Kaufman and Thomas (1959), Wong and McFarlin (1967), and Dalakas and Engel (1981) was thought to have had a different mutation (Jacobson et al., 1987; Buxbaum, 1987). The disorder in this kindred was unusually severe with relatively early death and extensive involvement of the ocular vitreous. Jacobson et al. (1992) indeed demonstrated a distinct mutation: a leu55-to-pro substitution in the TTR gene (176300.0022). </p>
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<h4>
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<span class="mim-font">
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<strong>.0004 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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TTR, THR60ALA
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<br />
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SNP: rs121918070,
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gnomAD: rs121918070,
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ClinVar: RCV000014363, RCV000159427, RCV000852477, RCV001173293, RCV002453258
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<span class="mim-text-font">
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<p>Wallace et al. (1986) found substitution of alanine for threonine at position 60 of transthyretin (T60A) in an Irish kindred with familial amyloid polyneuropathy (AMYLD1; 105210) from the Appalachian region of the United States. As in the Indiana form (176300.0006), major deposits of amyloid occurred in the heart, but otherwise the disorder appeared 'to have a unique disease progression.' Benson et al. (1987) gave the clinical description of the Appalachian kindred with hereditary amyloidosis and late-onset cardiomyopathy. The family was partially of Irish ancestry (Benson, 1988). The proband of the family was 65 years old when he died of cardiomyopathy. For several years he had symptoms of peripheral neuropathy, including chronic diarrhea, bladder dysfunction, and sexual impotence. Bladder and prostatic biopsies were positive for amyloid. During the last few months of his life, he developed severe congestive heart failure and heart block that required a pacemaker. There were at least 22 affected individuals in the family. Although in general the late onset of the ailment placed it in type II amyloid polyneuropathy, the authors believed that the lack of eye involvement set the entity apart from the Indiana form of the disease. They pointed out the hazard that patients with this disorder will be misdiagnosed as having the immunoglobulin type of systemic amyloidosis, an error that might lead to chemotherapy and unjustified risk to the patient. </p><p>Amyloidosis resulting from this variant has been referred to as the Appalachian type (Wallace et al., 1988; Benson, 2001). </p><p>Koeppen et al. (1990) restudied the family reported by Koeppen et al. (1985). They updated and revised the pedigree and determined that the underlying mutation was thr60-to-ala, the Appalachian mutation. </p><p>Staunton et al. (1987) described transthyretin-derived amyloid polyneuropathy of a hereditary nature in County Donegal, Ireland. The clinical picture was most consistent with that of the Portuguese type, although the age of onset was somewhat older. In fact, however, as reported by Staunton et al. (1991), the mutation proved to be the thr60-to-ala Appalachian mutation which had been found in a family of Irish ancestry living in the Appalachian region of the U.S. </p><p>In 5 patients with cardiac amyloidosis, 3 of whom also had renal and or splenic involvement, Lachmann et al. (2002) identified heterozygosity for the T60A mutation in the TTR gene. The predominant clinical feature in these patients was cardiomyopathy and/or neuropathy. </p>
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</span>
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</div>
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<h4>
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<span class="mim-font">
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<strong>.0005 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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TTR, SER77TYR
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<br />
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SNP: rs121918071,
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ClinVar: RCV000014364, RCV000519257, RCV001000742, RCV001173289, RCV002433454, RCV002504783
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</span>
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</div>
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<span class="mim-text-font">
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<p>Wallace et al. (1986) described a prealbumin variant associated with autosomal dominant amyloidosis (AMYLD1; 105210) in an American patient of German ancestry living in Wisconsin. This involved substitution of tyrosine for serine at position 77 (S77Y) resulting from a C-to-A mutation in that codon. Using the restriction enzyme SspI and a specifically tailored genomic prealbumin oligonucleotide probe, Wallace et al. (1986, 1988) detected a single-nucleotide change in codon 77 of the variant prealbumin gene. Satier et al. (1990) found the same mutation in a family from Picardy, which is located in northern France, east of Normandy. Clinical onset was in the fifth and sixth decades with decreased sensation in the lower limbs followed by involvement of the arms. Motor changes appeared later. Cardiac involvement with congestive heart failure and arrhythmias was the cause of death. They stated that the American family of German origin was living in Illinois and that another American family with French Huguenot ancestors had been found with the tyr77 mutation. </p><p>Amyloidosis resulting from this variant has been referred to as the Illinois/German type (Wallace et al., 1988). </p><p>After the met30 mutation (176300.0001), the tyr77 mutation is the most prevalent. Blanco-Jerez et al. (1998) presented clinical and pathologic features of an extensive Spanish family with the tyr77 mutation of TTR. Twelve individuals over 4 generations were affected. They found that an initial and sometimes prolonged carpal tunnel syndrome, beginning between the sixth and seventh decades, characterized the tyr77 mutation. In most cases, this evolved to generalized peripheral nerve involvement, restrictive cardiomyopathy, and intestinal malabsorption. Blanco-Jerez et al. (1998) suggested that, although survival with the tyr77 mutation is usually high, there are progressive cases that should be candidates for liver transplant, before severe impairment develops. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>.0006 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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TTR, ILE84SER
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<br />
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SNP: rs121918072,
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ClinVar: RCV000014365, RCV001810859, RCV002321479
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Substitution of serine for isoleucine at position 84 of transthyretin (I84S) is found (Wallace et al., 1986) in the Indiana Swiss family with familial amyloid polyneuropathy (AMYLD1; 105210) originally reported by Rukavina et al. (1956). Amyloidosis resulting from this variant has been referred to as the Indiana/Swiss type (Wallace et al., 1988; Benson, 2001). </p><p>Neuropathic manifestations begin and predominate in the upper limbs. Carpal tunnel syndrome (pain, numbness and weakness referable to the median nerve and atrophy of the abductor pollicis brevis muscle) is the characteristic feature and is relieved by decompression of the carpal tunnel. Onset is usually in the 40s and progression to generalized neuropathy is slow so that survival for 20 years or more after onset is the rule. The disease is milder in females. Amyloidosis with this course of disease has been designated FAP type II (Hund et al., 2001). Vitreous opacities and visceral manifestations are less conspicuous than in amyloidosis I (see 176300.0001). The Indiana type was observed by Rukavina et al. (1956) in many members of a religious sect of Swiss origin living in Indiana. Mahloudji et al. (1969) observed what they thought to be the same disorder in an equally large number of persons of German extraction living in Frederick and Washington counties of Maryland. This proved to be a different mutation; see 176300.0003. </p><p>In the kindred studied by Rukavina et al. (1956), Benson and Dwulet (1983) found that prealbumin and retinol-binding protein were low in 9 patients. Offspring of affected persons fell into 2 groups: one with prealbumin and RBP levels like those in the normal parent and the other with prealbumin and RBP levels like those in affected persons. Thus, serum abnormalities may be present long before development of clinical disease. </p><p>Benson and Dwulet (1985) and Dwulet and Benson (1986) found a prealbumin with substitution of serine for isoleucine at position 84 in the original Indiana kindred with FAP type II. The change from isoleucine to serine results from substitution of guanine for thymine as the second nucleotide in codon 84. Substitution at 84 reduces affinity of prealbumin for RBP. The low serum levels may be explained thereby, because RBP unbound to PALB is quickly cleared by the kidney. By Southern blot analysis of a genomic prealbumin probe, Wallace et al. (1988) demonstrated that the T-to-G change in codon 84 creates an extra AluI site in DNA. This can be used as a direct, reliable DNA test for the ser84 prealbumin gene. </p><p>Benson (1986) suggested that there is a higher incidence of vitreous and heart involvement and possibly a higher incidence of carpal tunnel syndrome in the Indiana kindred than in the Maryland kindred. Harats et al. (1989) found no evidence of amyloid in the skin, rectum, or carpal tunnel in patients aged 26 to 37 from the Indiana kindred with no clinical evidence of the disease, but with biochemical evidence (in serum) of being affected. </p><p>Zolyomi et al. (1998) described the same ile84-to-ser TTR mutation in affected members of a Hungarian family with familial amyloid polyneuropathy. This is said to be the first demonstration of this mutation in Europe. Although no genealogic link has been established between the Indiana kindred with Swiss/German origin and the Hungarian kindred, haplotype analysis suggested that they had a common origin. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, LEU111MET
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<br />
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SNP: rs121918073,
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ClinVar: RCV000014366, RCV003162251
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Frederiksen et al. (1962) in Denmark described a family in which 7 of 12 sibs had progressive heart failure due to cardiac amyloidosis (AMYLD1; 105210). The onset of heart failure was at about age 40 years, with progression to death in 3 to 6 years. Cardiac catheterization showed constrictive-type right-ventricular pressure curves. The children and grandchildren of the affected persons were too young to show the condition. The father was living and well at age 74. The mother, who died in the influenza epidemic of 1918, was said to have been always sickly and to have swollen legs, but did bear 12 offspring. </p><p>Husby et al. (1986) found a substitution of methionine for leucine at position 111 in transthyretin (L111M) as the basis of the cardiac amyloidosis described in Danes by Frederiksen et al. (1962). </p><p>Nordvag et al. (1992) described a diagnostic test for the molecular detection of this mutation. DdeI digestion of PCR-amplified genomic DNA from patients revealed 3 bands by gel electrophoresis, whereas amplified DNA of controls showed 2 bands. Nordvag et al. (1993) applied this test in a retrospective study of DNA from 65 formalin-fixed, paraffin-embedded tissues obtained at autopsy or biopsy from 29 members of the Danish family. The leu111-to-met mutation was found in 10, whereas 13 were not affected. The results were consistent with known clinical data and with corresponding serum TTR examinations. </p><p>Ranlov et al. (1992) gave a follow-up on the original Danish kindred. They had available stored, frozen serum samples obtained in 1959 and 1960 from 36 of 40 living members of the kindred. They found that none of the 18 members of the kindred who tested negative for the leu111-to-met mutation had developed cardiomyopathy. The leu111-to-met carrier who died as a result of an accident at age 22 showed no postmortem evidence of amyloid deposits. All 7 persons who developed amyloidosis had the mutation. In an accompanying editorial, Benson (1992) pointed out features of amyloid cardiomyopathy that should be considered when there are systemic features such as nephrotic syndrome, gastrointestinal motility disturbance, neuropathy, and purpura. Cardiac amyloidosis can result in angina pectoris when there is no significant coronary vessel disease, possibly because of small vessel rigidity due to amyloid deposits. The typical electrocardiogram shows changes usually interpreted as 'anteroseptal myocardial infarction, age undetermined.' The 'pseudoinfarction' pattern results presumably from dense amyloid infiltration. Left atrial enlargement results from the restrictive nature of the process. The echocardiogram may be interpreted as showing 'good systolic function'; the pathophysiologic problem is in filling, not emptying, of the ventricle. Nordvag (1995) indicated that carpal tunnel syndrome was the presenting symptom in the Danish kindred with familial amyloid cardiopathy, although the heart was the major affected organ. Patients with the leu111-to-met mutation had significantly depressed free thyroxine serum levels. </p><p>Benson (2001) noted that the kindred originally described by Frederiksen et al. (1962) was the only one to be reported with this mutation. This form of amyloidosis had been referred to as the Danish or cardiac type. </p>
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</span>
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</div>
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<br />
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0008 TRANSTHYRETIN POLYMORPHISM</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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TTR, TYR116VAL
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<br />
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ClinVar: RCV000014367
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Strahler et al. (1987) described substitution of valine for tyrosine at position 116 in TTR in a family of French-Canadian descent. The variation had no evident pathologic consequences. Because this change requires 2 nucleotide substitutions, the authors proposed that it arose through mutation in a rare variant or a hitherto undetected polymorphic allele of human TTR. Either phenylalanine or glutamic acid at residue 116 are possible 'intermediate' alleles. Strahler et al. (1987) stated that although several electrophoretic variants of TTR had been described, this was the first definition of the underlying molecular substitution in a variant other than those that accompany amyloidosis. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0009 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, VAL122ILE
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<br />
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SNP: rs76992529,
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gnomAD: rs76992529,
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ClinVar: RCV000014368, RCV000078674, RCV000211747, RCV000243161, RCV000735409, RCV000853387, RCV001173290, RCV001310260, RCV002476965, RCV003319166, RCV003335038, RCV004798727
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Benson (2001) noted that the val122-to-ile mutation in transthyretin (V122I) was discovered in an individual with cardiomyopathy but no family history of amyloidosis (AMYLD1; 105210) (Gorevic et al., 1989). It was first believed to explain some cases of senile cardiac amyloidosis. Both homozygous and heterozygous patients have been described. All affected individuals have been elderly, presenting after the age of 60 with cardiomyopathy, and nearly all have been African American. The mutation has been found in nearly 4% of selected African American cohorts and may be the cause of heart failure in a significant portion of the elderly in this population (Jacobson et al., 1996). Peripheral neuropathy has been reported, but is a minor clinical manifestation of this syndrome. Because transthyretin amyloidosis is an autosomal dominant trait, the high allele frequency makes this one of the most important genetic mutations in the United States. </p><p>Jiang et al. (2001) stated that the V122I variant is the most common amyloidogenic variant worldwide, with an estimated 1.3 million heterozygotes. Although the age of onset (typically older than 60 years) is similar for senile systemic amyloidosis and familial amyloidotic cardiomyopathy V122I patients, the latter are much more likely to suffer cardiac failure, especially in the case of V122I homozygotes. V122I cardiac disease penetrance approaches 100%, whereas senile systemic amyloidosis, involving wildtype TTR amyloid deposition in the heart, affects less than 25% of the population above age 80. </p><p>In a case of senile systemic amyloidosis in a 68-year-old black male, Jacobson et al. (1988, 1990) found an apparently homozygous substitution of isoleucine for valine at position 122 (V122I). No family members were available for study. This change predicted a genomic G-to-A transition, destroying an MaeIII restriction site. Homozygosity was established by the demonstration that the patient's DNA was entirely resistant to MaeIII cleavage. The variant was found in none of either 24 controls or 6 other patients with senile systemic amyloidosis. The only other report of homozygosity for a transthyretin mutation causing amyloidosis is the report by Holmgren et al. (1988) concerning the val30-to-met mutation (176300.0001). </p><p>Gorevic et al. (1989) found that isolated amyloid fibrils from 3 cases of systemic senile amyloidosis contained subunit proteins that were transthyretin. Complete sequence analysis of 1 (presumably the same case as that studied by Jacobson et al. (1988, 1990)) showed the presence of a new variant TTR molecule with a single amino acid substitution of isoleucine for valine at position 122. Thus, systemic senile amyloidosis may, in some cases at least, be a genetically determined disease expressed late in life. </p><p>Snyder et al. (1989) provided evidence for the hereditary nature of senile cardiac amyloidosis. They identified 2 brothers, both homozygous for the isoleucine-for-valine substitution at position 122. The substitution predicts a guanine-to-adenine substitution at the nucleotide corresponding to the first base of codon 122 (i.e., GTC to ATC) which would result in the loss of a MaeIII restriction endonuclease recognition site. The same change was found in the DNA of the son of 1 of the brothers in heterozygous state and was confirmed by analysis of the plasma prealbumin.</p><p>Westermark et al. (1990) found that the transthyretin molecule is normal in cases of the common form of senile systemic amyloidosis that affects to some degree 25% of the population over 80 years of age. For this reason they concluded that factors other than the primary structure of TTR must be important in its pathogenesis. They suggested that the cardiomyopathy that is similar to senile systemic amyloidosis and is associated with the val122-to-ile mutation represents another rare form of amyloidosis separate from the common disorder. Using PCR around codon 122 and digestion with MaeIII, Jacobson et al. (1991) investigated the frequency of the val122-to-ile mutation in 177 black persons without amyloidosis and without overt cardiac disease. The MaeIII restriction site is eliminated by the val122-to-ile mutation. They found 4 examples of the MaeIII-negative gene among 354 chromosomes, giving a frequency of 1.1% (95% confidence interval 0.32-2.7%). Thus, the variant is relatively common in blacks. HLA genotyping did not suggest that the val122-to-ile heterozygotes were of closely related genetic background. DNA testing for this variant may be useful in the clinical evaluation of black patients with unexplained cardiomyopathy. </p><p>It is useful to distinguish TTR-related cardiac amyloidosis from that due to deposition of immunoglobulin light chains, AL amyloid (Olson et al., 1987). The TTR disease has a better prognosis than does AL amyloidosis involving the heart. Chemotherapy, which is thought to be beneficial in AL amyloid (Kyle et al., 1985), may be of no value in TTR-amyloidosis. </p><p>With a specific test for the val122-to-ile mutation, Jacobson (1992) confirmed that the mutation was present in heterozygous state in 4 of 177 healthy black individuals and as a homozygous variant in a person with cardiac amyloidosis. He suggested that genetic testing for this mutation would be worthwhile in the evaluation of patients with unexplained cardiomyopathy. Nichols et al. (1991) had found the val122-to-ile mutation in homozygous state in anther black patient with cardiac TTR-amyloidosis, and Saraiva et al. (1990) had found it in heterozygous state in a black patient with the same disorder. </p><p>After the age of 60, isolated cardiac amyloidosis is 4 times more common among blacks than whites in the United States; 3.9% of blacks are heterozygous for the amyloidogenic V122I (ile122) allele. Jacobson et al. (1997) presented evidence that a high prevalence of transthyretin ile122 is at least partially responsible for the increased frequency of senile cardiac amyloidosis among blacks. They studied cardiac tissue from 32 blacks and 20 whites over 60 years of age with isolated cardiac amyloidosis. Transthyretin amyloidosis was identified in 31 of the 32 cardiac tissue samples from the black patients and in 19 of the 20 samples from the white patients. In 6 of the 26 analyzable DNA samples (23%) from the black patients and none of the 19 samples from the white patients, heterozygosity for the ile122 variant was found. In a second, age-matched cohort of blacks without amyloidosis at the same institution, 4 of 125 DNA samples obtained at autopsy (3.2%) were heterozygous for the ile122 allele. On reexamination, the cardiac tissue from these 4 patients contained small amounts of amyloid not detected at the initial autopsies. All subjects with the ile122 variant had ventricular amyloid. Jacobson et al. (1997) concluded that the assessment of elderly black patients with unexplained heart disease should include a consideration of transthyretin amyloidosis, particularly that related to the ile122 allele. </p><p>Benson (1997) stated that the best way to detect cardiac amyloidosis is with echocardiography. By the time a patient presents with symptoms of heart failure, the intraventricular septum and left ventricular posterior wall are thickened and the left atrium is often enlarged, an indication of the presence of restrictive cardiomyopathy of the left ventricle. Endomyocardial biopsy is also a valuable means of diagnosing cardiac amyloidosis and is recommended for patients scheduled to undergo cardiac catheterization because of a restrictive hemodynamic pattern. DNA testing is useful to confirm the hereditary nature of the disease and in counseling patients and their families. In the treatment of heart failure due to amyloidosis the avoidance of negative inotropic agents (including most antiarrhythmic medications) and overdiuresis and the maintenance of normal sinus rhythm contribute to a better outcome. </p><p>Askanas et al. (2003) reported a 70-year-old African American man with sporadic inclusion body myositis (147421) and cardiac amyloidosis associated with the V122I mutation. Cultured skeletal muscle fibers from the patient showed vacuolar degeneration, congophilic inclusions, and clusters of colocalizing beta-amyloid and TTR immunoreactivities, none of which were found in normal cultured muscle fibers. Overexpression of the amyloid precursor protein gene (APP; 104760) resulted in accelerated fiber degeneration, greater congophilic inclusions, and accumulation of heavy beta-amyloid oligomers. Askanas et al. (2003) suggested that the V122I mutation may have predisposed the patient to inclusion body myositis by increasing beta-amyloid deposition in skeletal muscle. </p><p>Jiang et al. (2001) demonstrated that the V122I variant, producing familial amyloidotic cardiomyopathy primarily in individuals of African descent, increases the velocity of rate-limiting tetramer dissociation, thus resulting in accelerated amyloidogenesis. Chakrabartty (2001) pointed out that the in vitro studies of Jiang et al. (2001) provided a biophysical explanation of how disease-associated mutations in TTR affect the course of TTR amyloidoses, thus strengthening the amyloid hypothesis. </p><p>In 2 Afro-Caribbean patients with cardiac amyloidosis, aged 63 and 74 years, respectively, Lachmann et al. (2002) identified heterozygosity for the V122I mutation in the TTR gene. Cardiomyopathy was the predominant clinical feature in both patients, and 1 of them also displayed neuropathy. </p><p>To assess the effect of the V122I variant on long-term morbidity and mortality, Quarta et al. (2015) genotyped 3,856 black participants in the Atherosclerosis Risk in Communities study and assessed cardiac structure and function as well as features suggestive of cardiac amyloidosis in participants older than 65 years of age. The authors identified carrier status for the V122I variant in 124 participants (3%). After 21.5 years of follow-up, Quarta et al. (2015) did not detect a significant difference in mortality between carriers (41 deaths, 33%) and noncarriers (1,382 deaths, 37%; age- and sex-stratified hazard ratio among carriers, 0.99; 95% confidence interval, 0.73-1.36; p = 0.97). The TTR variant was associated with an increased risk of incident heart failure (age- and sex-stratified hazard ratio, 1.47; 95% confidence interval, 1.03-2.10; p = 0.04). On echocardiography at visit 5, carriers had worse systolic and diastolic function, as well as a higher level of N-terminal pro-brain natriuretic peptide, than noncarriers, although carriers had a low prevalence of overt manifestations of amyloid cardiomyopathy. Quarta et al. (2015) did not detect a significant difference in mortality between V122I TTR allele carriers and noncarriers, a finding that contrasted with prior observations; however, the risk of heart failure was increased among carriers. The prevalence of overt cardiac abnormalities among V122I TTR carriers was low. </p><p>Buxbaum and Ruberg (2017) reviewed the TTR V122I allele. The frequency of this amyloidogenic allele is 0.0173, and it is carried by 3.5% of community-dwelling African Americans. Genotyping across Africa indicated that the origin of the allele is in the West African countries that were the major source of the slave trade to North America. Genotyping of tissues from 112 consecutive autopsies of African Americans age 65 or over identified 4 samples (3.9%) positive for the V122I allele; heart tissues from all 4 carriers showed some degree of cardiac amyloid deposition. However, the clinical penetrance varied, resulting in substantial heart disease in some carriers and few symptoms in others. The allele has been found in 10% of African Americans older than age 65 with severe congestive heart failure. The authors reported potential forms of therapy in clinical trials and suggested testing for this variant in older African Americans with heart disease. </p>
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</span>
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</div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0010 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, HIS90ASN
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<br />
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SNP: rs121918074,
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gnomAD: rs121918074,
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ClinVar: RCV000014369, RCV000152541, RCV000621211, RCV000770556, RCV000852746, RCV000857889, RCV001173306, RCV001256816
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family of Italian-Sicilian origin with amyloidosis polyneuropathy (AMYLD1; 105210) described by Skare et al. (1989), the proband, a 39-year-old woman, developed sensory neuropathy at age 34 and vitreous opacities that required vitrectomy in the left eye. Her mother, a maternal uncle, and a maternal aunt died of amyloidosis manifested by peripheral neuropathy, vitreous opacities, and cardiomyopathy. The vitreous amyloid had the immunohistologic characteristics of transthyretin. Previously identified mutations in transthyretin were excluded. A new 7.0-kb SphI restriction site in exon 3 was found. The mutation that could produce the restriction site would result in a substitution for glu89, his90, or ala91. Skare et al. (1991) later demonstrated that the transthyretin variant in this patient had lost an SphI cleavage site within exon 3 and acquired a BsmI cleavage site not present in normal transthyretin. This led to the conclusion that histidine-90 was replaced by asparagine, and amino acid analysis supported the conclusion. Saraiva et al. (1991) found the same variant, H90N, as a seemingly nonpathogenic variant with a low pI in 2 of 4,000 German subjects and in 4 of 1,200 Portuguese subjects. In all carriers of the asn90 variant, no association with traits characteristic of FAP were found. One individual from an FAP kindred was simultaneously a carrier of the met30 substitution and the acidic variant. One individual from the randomly selected Portuguese sample had only the acidic monomer, i.e., was homozygous. </p><p>In studies that attempted to find the reason for the amyloidogenic effects of the mutation in some families, Alves et al. (1992) demonstrated differences in the mobility pattern on isoelectric focusing between the nonpathogenic and pathogenic variants. However, DNA sequencing revealed no additional mutation distinguishing the 2. Alves et al. (1992) suggested that 'an as yet unknown post-translational modification may have occurred in the FAP-associated Asn 90 variant, turning it into an amyloidogenic molecule.' </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0011 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, TYR114CYS
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<br />
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SNP: rs121918075,
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ClinVar: RCV000014361, RCV001582481, RCV002354160
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Ueno et al. (1990) studied a kindred with familial amyloid polyneuropathy (AMYLD1; 105210) from the Osaka area of Japan. Although they stated that the patients in whom they performed molecular studies were sibs, they were in fact cousins. Symptoms of decreased libido, fecal incontinence, pitting pretibial edema and numbness in the legs began at about age 30. Vitreous opacities were described. Sudden death occurred in the late thirties in both patients. The family was traced back 4 generations to 1835 at which time the family was in the Nagasaki area of Japan. In exon 4 a single base change of A to G was found at position 6752, which resulted in substitution of cysteine (TGC) for tyrosine (TAC) at position 114 of the 127-residue TTR molecule (Y114C). Both subjects were heterozygous. Ueno et al. (1992) provided further information; by 1992, 12 of 36 known members of 6 generations were affected. Autonomic disturbances, especially postural hypotension, were the most debilitating symptoms. The duration from onset to death was under 10 years. Heart failure caused by heavy amyloid deposits was the common cause of sudden death. </p><p>Haagsma et al. (1997) described a Dutch kindred with the Y114C transthyretin mutation (called cys114 by them). The variant had previously been identified only in Japan.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0012 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, GLU42GLY
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<br />
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SNP: rs11541796,
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ClinVar: RCV000014370
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Japanese kindred with amyloid polyneuropathy (AMYLD1; 105210), Ueno et al. (1990) found a single base change from A to G at position 1135 in exon 2 of the TTR gene, resulting in replacement of glutamate by glycine at position 42 (E42G). Uemichi et al. (1992) provided further details. Six persons had polyneuropathy. The mean age of onset was 38 for 4 males and 54 for 2 females. Amyloid cardiomyopathy was present in 3. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0013 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, SER50ARG
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<br />
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SNP: rs121918076,
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ClinVar: RCV000014371, RCV002415415, RCV003480030
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Japanese kindred with autosomal dominant amyloid polyneuropathy (AMYLD1; 105210), Ueno et al. (1990) found a T-to-G transversion at position 3252 in exon 3 of the TTR gene resulting in replacement of serine by arginine at position 50 (S50R). The mutant was discovered by randomly sequencing recombinant clones containing the entire length of each of the 4 exons selectively amplified by PCR. The base change produced a change in restriction site RFLPs, and allele-specific oligonucleotide hybridization confirmed the base change. Takahashi et al. (1992) described the same mutation in a member of another family. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0014 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, VAL30ALA
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<br />
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SNP: rs79977247,
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ClinVar: RCV000014372
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Jones et al. (1990, 1992) showed that a dominantly inherited amyloid polyneuropathy (AMYLD1; 105210) in a family of German descent was due to a cytosine for thymine substitution in the second base of codon 30, resulting in substitution of alanine for valine (V30A). This mutation created a novel CfoI restriction endonuclease site in exon 2. This represented a hydrophilic substitution at a hydrophobic core position. The change is in the same codon as the val30-to-met mutation found in the Andrade or Portuguese type (176300.0001); see also the val30-to-leu mutation (176300.0024). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0015 DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, ALA109THR
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<br />
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SNP: rs267607159,
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gnomAD: rs267607159,
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ClinVar: RCV000036375, RCV000548533, RCV000619844, RCV000755423, RCV002290958, RCV002482974, RCV003149627
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family with euthyroid hyperthyroxinemia (DTTRH; 145680) in 8 persons spanning 3 generations (Moses et al., 1982), Moses et al. (1990) found a change in 50% of TTR clones in which exon 4 had a substitution of adenine (ACC) for guanine (GCC) in codon 109, resulting in the replacement of threonine for alanine. The mutation was confirmed by amino acid sequencing of tryptic peptides derived from purified plasma TTR. The single-nucleotide substitution abolished 1 of 2 Fnu4HI restriction sites in exon 4. PCR amplification of exon 4 of TTR and restriction digestion with Fnu4HI confirmed that 5 affected family members with increased binding of radiolabeled T4 to TTR were heterozygous for the threonine-109 substitution. </p><p>Refetoff et al. (1996) noted that of 3 TTR variants with increased affinity for T4, ala109 to thr, thr119 to met (176300.0018) and gly6 to ser (176300.0036), only ala109 to thr has a high enough affinity for T4 to produce consistent hyperthyroxinemia in heterozygotes. Because the GCC-to-ACC mutation causing ala109 to thr destroys a BsoFI site in exon 4 of the TTR gene, use of this enzyme was suggested as a way to screen for ala109-to-thr substitutions in subjects with euthyroid hyperthyroxinemia. Another mutation at the same codon, ala109 to val (176300.0038), has an affinity for T4 which approaches that of TTR-thr109 and is sufficient to produce consistent hyperthyroxinemia in heterozygotes. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0016 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, ALA36PRO
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<br />
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SNP: rs121918077,
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ClinVar: RCV000014374
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family of Greek descent with familial amyloid polyneuropathy (AMYLD1; 105210), Jones et al. (1991) found a CCT-to-GCT change in codon 36 of the TTR gene resulting in a substitution of proline for alanine (A36P). Jacobson et al. (1992) found the same mutation in an Ashkenazi Jewish kindred with FAP. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-text-font">
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<strong>.0017 MOVED TO 176300.0010</strong>
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</span>
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</h4>
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<br />
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0018 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1, MODIFIER OF</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, THR119MET
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<br />
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SNP: rs28933981,
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gnomAD: rs28933981,
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ClinVar: RCV000014376, RCV000036376, RCV000618448, RCV000714134, RCV000990084, RCV001170385, RCV001173303, RCV003993656
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>The substitution of methionine for threonine at codon 119 (T119M) influences the clinical outcome of met30 carriers with amyloidosis (176300.0001), with met119 exerting a protective effect.</p><p>In a North American kindred of Swedish ancestry, Harrison et al. (1991) identified an apparently benign, electrophoretic variant of prealbumin, which they designated prealbumin Chicago. They identified a C-to-T mutation in exon 4 of the TTR gene which resulted in replacement of threonine by methionine at position 119 of the mature molecule (T119M). The variant was found incidentally in a girl with classic alpha-1-antitrypsin (AAT) deficiency (107400) and in her father during AAT phenotyping by an electrophoretic method. Five heterozygotes in 3 generations were studied. There was no evidence of amyloidosis in the family. Mean values of serum prealbumin and retinol binding protein levels were higher in the carriers than in normal relatives, but the difference was not statistically significant. The substitution at position 119 occurred in a CpG dinucleotide that may be a point mutation hotspot, as has been postulated for the methionine-30 and isoleucine-122 TTR mutations. </p><p>Ii et al. (1992) also found this variant. Since thr119 is invariant in 5 mammalian species, it is presumably important to normal protein function. To determine the frequency of the variant, Ii et al. (1992) screened persons of northern- and western-European descent by means of a PASA (PCR amplification of specific alleles) assay. In all, they found 5 instances of the met119 allele in 1,666 genes, to give a frequency of 1/333. Clinical records, initial clinical interviews, and family history of these patients suggested a high frequency of early-onset venous insufficiency and perhaps mild renal dysfunction. Haplotype analysis suggested that the variant derived from a common ancestor. Ii et al. (1992) commented that although traditionally clinical research has sought to determine the molecular basis of clinical signs and symptoms, increasingly the process will be reversed, as structural protein variants are discovered. </p><p>Scrimshaw et al. (1992) identified the same mutation, ACG-to-ATG at position 119, in 4 unrelated persons with euthyroid hyperthyroxinemia (145680). The mutation created a new NcoI restriction endonuclease cleavage site which permitted its detection by a rapid and simple assay based on PCR. Scrimshaw et al. (1992) concluded that although the thr119-to-met mutation was associated with increased binding of thyroxine, the hyperthyroxinemia in the patients who brought the variant to their attention had some other explanation because many persons with the variant had normal serum thyroxine concentrations. </p><p>Alves et al. (1993) found another family with this mutation during a screening program for TTR mutations in the Portuguese FAP population. Cyanogen bromide peptide mapping and DNA RFLP analyses showed that the proband was a compound heterozygote for 2 TTR variants: his90-to-asn (176300.0010) and thr119-to-met, inherited from the father and mother, respectively. Neither the compound heterozygote nor his parents had symptoms of FAP. Alves et al. (1993) confirmed that TTR binding of T4 was increased in association with the met119 mutation. </p><p>Coelho et al. (1996) found that compound heterozygotes of transthyretin met30 and met119 were protected from the devastating effects of familial amyloid polyneuropathy.</p><p>The V30M mutation (176300.0001) is a prevalent cause of familial amyloid polyneuropathy in heterozygotes, whereas the thr119-to-met mutation (T119M) on the second TTR allele protects V30M carriers from disease. Hammarstrom et al. (2001) demonstrated that the incorporation of 1 or more T119M TTR subunits into a predominantly V30M tetramer strongly stabilized the mixed tetramer against dissociation, which is required for amyloid formation. Hammarstrom et al. (2001) concluded that their findings provided a molecular explanation for intragenic trans-suppression of amyloidosis. </p>
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</span>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0019 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, LEU58ARG
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<br />
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SNP: rs121918069,
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ClinVar: RCV000014377
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>By single-strand conformation polymorphism (SSCP), Saeki et al. (1991) detected a T-to-G base change in exon 3 resulting in substitution of arginine for leucine-58 (L58R) in a 39-year-old Japanese man with amyloid polyneuropathy (AMYLD1; 105210). The patient had a 3-year history of weakness and dysesthesia in the hands, muscular atrophy in the distal part of all limbs, orthostatic hypotension, and impotence. The mutation was also found in his 62-year-old mother, who had had weakness and dysesthesia in the hands for 15 years and had surgical decompression of the carpal tunnels without relief. She had vitreous opacities since the age of 53 years. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0020 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, GLY47ARG, G-C
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<br />
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SNP: rs387906523,
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ClinVar: RCV000014378
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Japanese patient with familial amyloid polyneuropathy (AMYLD1; 105210), Murakami et al. (1992) demonstrated a de novo mutation in the TTR gene, a G-to-C substitution resulting in replacement of glycine by arginine at position 47 (G47R). The patient had onset of weight loss and diarrhea at the age of 29 years and orthostatic hypotension at the age of 32 at which time sensory loss in the legs and hypohidrosis were also present. There were no vitreous opacities. He died from emaciation at the age of 38. Neither his parents nor 2 brothers had symptoms of FAP and neither parent showed the mutation. </p><p>Ferlini et al. (2000) described the same mutation in an Italian family. The proband presented at the age of 16 years with a typical mixed polyneuropathy, confirmed by electromyography. Muscle biopsy showed amyloid deposits by Congo Red staining. She died of heart failure at the age of 33 years during a liver transplant. A sister was similarly affected. The father presented at the age of 39 years with polyneuropathy and autonomic dysfunction, was bedridden by the age of 41 years, and died at age 42 from cardiac failure. </p><p>See 176300.0043 for the gly47-to-arg mutation of the TTR gene due not to a G-to-C substitution, but rather to a G-to-A substitution. See 176300.0035 for the gly47-to-ala mutation, involving the same codon.</p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0021 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, ALA45THR
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<br />
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SNP: rs104894664, rs121918078,
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ClinVar: RCV000014379
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 58-year-old male of Irish and Italian descent with amyloidosis (AMYLD1; 105210) who first presented with an enlarged heart at age 50, Saraiva et al. (1992) demonstrated a G-to-A transition in codon 45 of the TTR gene, predicted to result in substitution of threonine for alanine (A45T). The patient began to show persistent diarrhea and genitourinary disturbances at the age of 53 years. Heart failure had its onset at age 54 years. Although there were no ocular symptoms or peripheral neuropathy, biopsies of skin, rectal fat, and bladder all showed the presence of amyloid. His mother was reported to have died of amyloidosis, and one sister, aged 54 years, had pedal edema. A maternal aunt also died of amyloid heart disease, confirmed at autopsy. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0022 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, LEU55PRO
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<br />
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SNP: rs121918079,
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ClinVar: RCV000014380
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In the West Virginia kindred of Dutch and German descent with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement (AMYLD1; 105210) reported by Shulman and Bartter (1956), Kaufman (1958), Wong and McFarlin (1967), and Dalakas and Engel (1981), Jacobson et al. (1992) found a T-to-C transition at position 2 of codon 55 of the TTR gene, corresponding to a leu-to-pro substitution (L55P). The abnormality was initially detected by a single-strand conformation polymorphism analysis. Jacobson et al. (1992) tabulated the clinical manifestations in 7 cases, of which 4 had autopsy. Onset was as early as age 14, with death at 19; the oldest survivor was 38 at death. </p><p>McCutchen et al. (1993) compared the amyloidogenicity of leu55-to-pro TTR to wildtype transthyretin. The overlap-extension PCR method was used to introduce the leu55-to-pro mutation into the TTR DNA sequence. The variant was expressed with a leader sequence to ensure secretion into the periplasmic space of E. coli. They found that the mutant TTR tetramer was significantly less stable than the wildtype. Characteristic amyloid fibrils were produced from leu55-to-pro TTR in vitro. Several lines of evidence had suggested that lysosomes may be the source of amyloid fibril formation in vivo. McCutchen et al. (1993) observed formation of amyloid fibrils from leu55-to-pro TTR at the normal operating pH of a lysosome. They proposed that their observations explained the unusual pathogenicity of this TTR mutant. </p><p>The same mutation was found by Yamamoto et al. (1994) in a Taiwanese FAP family with clinical manifestations very similar to those in the West Virginian family. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0023 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, SER50ILE
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<br />
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SNP: rs121918080,
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gnomAD: rs121918080,
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ClinVar: RCV000014381
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Japanese patient with familial cardiac amyloidosis (AMYLD1; 105210), Nishi et al. (1992) demonstrated a ser50-to-ile mutation in the TTR gene resulting from a G-to-T transversion. The patient had 2 sibs out of 8 who had died with cardiac amyloidosis. Electrocardiogram showed first-degree atrioventricular block and complete left bundle branch block. Two-dimensional echocardiography showed symmetrical left ventricular hypertrophy with preserved systolic function. The thickened cardiac walls demonstrated a granular sparkling texture. Amyloid deposits were found in biopsy specimens from the rectum and skin. None of the 3 patients showed evident polyneuropathy. </p><p>In a Japanese patient with amyloid polyneuropathy, Saeki et al. (1992) used SSCP analysis of PCR products to demonstrate mutation in exon 3. Direct sequencing demonstrated a G-to-T transversion resulting in substitution of isoleucine for serine-50. See 176300.0013 for another mutation affecting serine-50 in a Japanese patient. Saeki et al. (1992) described their patient as a 56-year-old Japanese woman living in Oita Prefecture who had a 7-year history of sensory disturbance and muscular atrophy in the lower limbs. The autonomic dysfunction, especially orthostatic hypotension, limited her ambulation. Amyloid deposition was proven by sural nerve biopsy, </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0024 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, VAL30LEU
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<br />
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SNP: rs28933979,
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gnomAD: rs28933979,
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ClinVar: RCV000014382, RCV001173291, RCV002390107
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Japanese patient with familial amyloid polyneuropathy (AMYLD1; 105210), Murakami et al. (1992) used single-strand conformation polymorphism analysis and sequence analysis of PCR-amplified exons of TTR to demonstrate a val30-to-leu (V30L) mutation. The mutation created a Cfr13I site. The change is in the same codon as the val30-to-met mutation found in the Andrade or Portuguese type (176300.0001); see also the val30-to-ala mutation (176300.0014). </p><p>The pathogenic significance of the V30L mutation was confirmed by Utsugisawa et al. (1998), who demonstrated the same mutation in 3 members of a Japanese family with type I FAP. The proband was a 46-year-old woman who gradually developed sensory dullness, muscle weakness, and atrophy of the legs and the arms. The pupils were dilated and did not react to light and accommodation, but were hypersensitive to both 0.1% pilocarpine and 0.125% epinephrine. Tendon reflexes were absent or diminished in the extremities. She showed severe hypesthesia in the distal parts of the extremities, but sparing joint sensation. Orthostatic hypotension was demonstrated with no change in pulse rate on assuming the standing position. Her father died at age 53 years, having had similar symptoms. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0025 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, THR49ALA
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<br />
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SNP: rs121918081,
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ClinVar: RCV000014383
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Sicilian kindred with amyloid neuropathy and cardiomyopathy (AMYLD1; 105210), Almeida et al. (1992) identified a mutation in the TTR gene resulting in substitution of alanine for threonine-49 (T49A). The disease started in the fifth decade with the appearance of vitreous opacities which was followed, several years later, by polyneuropathy and cardiomyopathy (Salvi et al., 1991). Benson et al. (1993) found the thr49-to-ala mutation in a French family with amyloid polyneuropathy described by Julien et al. (1983). Onset occurred in the third decade with carpal tunnel syndrome as the first manifestation. By direct genomic DNA sequencing, an A-to-G transition was found in the position corresponding to the first base of TTR codon 49. Since the DNA mutation did not result in the creation or abolition of a restriction endonuclease recognition site, Benson et al. (1993) applied a new DNA analysis technique in which site-directed mutagenesis is used to create a RFLP when the introduced mutation is in proximity to the natural mutation. Since the Italian kindred had later onset with vitreous deposits as the first feature and there was no mention of carpal tunnel syndrome, Benson et al. (1993) raised the question of possible error in identification of the mutation in that family. Benson (2001) noted that both families had cardiomyopathy and a similar age of onset. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0026 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, GLU89GLN
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<br />
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SNP: rs121918082,
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ClinVar: RCV000014384, RCV000236028, RCV002321480
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Sicilian family, Almeida et al. (1992) identified a glu89-to-gln substitution in transthyretin (E89Q) as the basis of amyloidosis presenting as neuropathy and cardiomyopathy (AMYLD1; 105210). In this and another Sicilian family (see 176300.0025), the TTR variants had been detected by isoelectric focusing (IEF); one was a neutral TTR variant and the other (E89Q) was basic. Three patients in the family with the E89Q mutation presented with carpal tunnel syndrome as the initial manifestation. Many years later, it was followed by polyneuropathy and cardiomyopathy responsible in 1 patient for intractable heart failure and death (Salvi et al., 1990). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0027 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, LYS70ASN
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<br />
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SNP: rs267607160,
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ClinVar: RCV000014385
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Izumoto et al. (1992) reported familial amyloid polyneuropathy (AMYLD1; 105210) in a pedigree of German ancestry residing in New Jersey. Eight affected persons presented in the third to seventh decade with carpal tunnel syndrome and 1 member of the family presented with vitreous opacification. Affected subjects were found to be heterozygous for a lys70-to-asn (K70N) mutation in the TTR monomer. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0028 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, CYS10ARG
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<br />
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SNP: rs121918083,
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gnomAD: rs121918083,
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ClinVar: RCV000014386, RCV000993524, RCV003298033
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a kindred with systemic amyloidosis (AMYLD1; 105210) presenting as peripheral neuropathy in the sixth and seventh decades of life, Uemichi et al. (1992) demonstrated a T-to-C transition at nucleotide 1038 of the TTR gene leading to substitution of arginine for cysteine at position 10 of the TTR protein molecule (C10R). The mutation created a new restriction recognition site, thus allowing easy diagnosis. The mutation was identified in 7 persons: none of 3 female mutant gene carriers, who were 87, 85, and 76 years old, had symptoms of the disease, while 4 of 5 male carriers, including 1 patient whose DNA was not available for testing, developed the disease in their fifties or sixties. It had been observed in other types of FAP that males are affected predominantly or at earlier ages than females. Affected subjects showed sensory and motor neuropathy, bowel disorder, sexual impotence, cardiomyopathy, and vitreous opacity, but no kidney dysfunction. Benson (2001) noted that arg10 replaces the only cysteine in the transthyretin molecule. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0029 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, VAL71ALA
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<br />
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SNP: rs121918084,
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ClinVar: RCV000014387
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a French woman with amyloidosis (AMYLD1; 105210) who presented at the age of 40 with neuropathy in all 4 limbs, diarrhea, and orthostatic hypotension, Benson et al. (1993) found a T-to-C transition converting codon 71 from GTG (valine) to GCG (alanine). The patient was heterozygous. The father died with a similar clinical picture, which included vitreous opacities. Two of 5 children were positive for the mutation. Almeida et al. (1993) found the same mutation in a Spanish kindred. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0030 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, ILE68LEU
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<br />
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SNP: rs121918085,
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gnomAD: rs121918085,
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ClinVar: RCV000014388, RCV001288934, RCV002426503, RCV002476966
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In a German family with cardiac amyloidosis (AMYLD1; 105210) in which the index patient presented at the age of 63 years with anginal pain and arrhythmia, Hesse et al. (1993) demonstrated an ile68-to-leu mutation in transthyretin (I68L). Electrocardiography showed a pseudoinfarction pattern. Amyloid was identified by immunohistochemistry in the endomyocardial biopsy specimen. The patient died in an accident before the investigations were completed, but an asymptomatic 22-year-old son was found to be heterozygous for the mutant TTR protein. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0031 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, GLU61LYS
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<br />
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SNP: rs121918086,
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ClinVar: RCV000014389, RCV002453259
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In a Japanese family, Shiomi et al. (1993) found that a glu61-to-lys (E61K) mutation in transthyretin was responsible for amyloid polyneuropathy (AMYLD1; 105210). This was said to be the first variant TTR with replacement of an acidic amino acid by a basic amino acid to be found in an amyloid precursor protein of FAP. The proband was a 64-year-old man with watery diarrhea beginning at the age of 62 years and progressive sensory and motor changes in the distal parts of all extremities beginning thereafter. A 66-year-old brother was an asymptomatic carrier of mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0032 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, ALA97GLY
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<br />
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SNP: rs121918087,
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ClinVar: RCV000014390
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>Yasuda et al. (1994) found a novel mutation causing amyloid polyneuropathy (AMYLD1; 105210) in 1 member of a Japanese family. The same mutation was found in 2 asymptomatic carriers. The clinical features were somatic sensory and motor neuropathy with well-preserved autonomic function, late onset, and slow, insidious progression. There were massive amyloid deposits with transthyretin in the myocardium and sural nerve. Molecular genetic studies revealed a substitution of glycine for alanine-97 (A97G) in transthyretin. The first manifestation was a tingling sensation in the proband's toes at the age of 56 years. A 39-year-old daughter and a 17-year-old grandson were the carriers. The presence of myeloid deposits was discovered when a permanent pacemaker was implanted for treatment of complete heart block. Indeed, the diagnosis of amyloidosis was first made at that time, when he was 67 years old. </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0033 CARPAL TUNNEL SYNDROME, FAMILIAL</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, TYR114HIS
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<br />
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SNP: rs121918088,
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ClinVar: RCV000014391
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|
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|
|
</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Murakami et al. (1994) presented the cases of a 68-year-old Japanese woman and her 67-year-old brother with carpal tunnel syndrome (115430). At the time of surgical carpal tunnel release, Congo-red stained biopsy material was obtained demonstrating the presence of amyloid. There were no other neurologic abnormalities, no orthostatic hypotension, no gastrointestinal problems or sphincter disturbances, and no vitreous opacities. The father, who had had symptoms of carpal tunnel syndrome, died at the age of 76 of pneumonia. Single-strand conformation polymorphism analysis and sequence analysis of PCR-amplified exons of the TTR gene revealed a T-to-C transition converting codon 114 from TAC (tyr) to CAC (his) (Y114H). The same codon is involved in a tyr-to-cys mutation (176300.0011) in which the manifestations are more characteristic of amyloid polyneuropathy. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0034 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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TTR, ILE107VAL
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<br />
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SNP: rs121918089,
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|
|
ClinVar: RCV000014392, RCV000506089, RCV001090344, RCV002354161, RCV002504784, RCV003458163
|
|
|
|
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 American patients of German descent with amyloid polyneuropathy (AMYLD1; 105210), Uemichi et al. (1994) identified heterozygosity for an ATT (isoleucine) to GTT (valine) transition in the codon corresponding to amino acid 107 of mature TTR (I107V). The mutation created a new MaeIII restriction site which could be used in diagnosis. Although clinical and family information were limited, Uemichi et al. (1994) indicated that both patients had had a diagnosis of carpal tunnel syndrome at the age of 56 and subsequently developed polyneuropathy in the legs. The father of 1 of the patients had died at the age of 60 of a similar illness, and necropsy showed amyloidosis. </p>
|
|
</span>
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</div>
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0035 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
TTR, GLY47ALA
|
|
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|
|
|
<br />
|
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|
|
SNP: rs121918090,
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|
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|
|
ClinVar: RCV000014393, RCV000516227, RCV002415416
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family originating from Abruzzi, Italy, Ferlini et al. (1994) described amyloid polyneuropathy and cardiomyopathy (AMYLD1; 105210) in members of 3 generations caused by a substitution of the second nucleotide of codon 47 of transthyretin, which caused a change from glycine to alanine (G47A). A substitution in the first nucleotide of codon 47 had been found as the cause of a gly47-to-arg mutation (G47R; 176300.0020). </p><p>Ferlini et al. (2000) described another Italian family with the glycine-to-alanine substitution caused by a G-to-C transversion in the penultimate nucleotide of codon 47. The proband was a 61-year-old woman originating from Tuscany. She presented with a 4-year history of weakness, exercise dyspnea, peripheral edema, and progressive weight loss. Left carpal tunnel surgery had been performed at the age of 56 years. Abdominal fat biopsy showed amyloid deposits. Echocardiography showed restrictive cardiomyopathy with a concentrically thickened left ventricle and reduced ejection fraction. </p>
|
|
</span>
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0036 TRANSTHYRETIN POLYMORPHISM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
TTR, GLY6SER
|
|
|
|
|
|
<br />
|
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|
|
SNP: rs1800458,
|
|
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|
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gnomAD: rs1800458,
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|
|
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ClinVar: RCV000014394, RCV000036379, RCV000250966, RCV001127884, RCV001173541, RCV001711070, RCV002496358, RCV003125830
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Jacobson et al. (1995) found that the TTR ser-6 (gly6-to-ser) allele had a frequency of 0.06 (33 in 558) in Caucasians, a frequency of 0.01 (3 in 242) in African Americans, and a frequency of 0 in 140 Africans and 208 Asians. The authors interpreted the data as indicating that this allele is a nonamyloidogenic population polymorphism in Caucasians with a single Caucasian founder and in the estimated 25% admixture of 'Caucasian' genes in the African American population. Alternatively, as the variant arose from a G-to-A transition at a CG dinucleotide hotspot, it may have arisen on multiple occasions. </p>
|
|
</span>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0037 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
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|
TTR, PHE64LEU
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<br />
|
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SNP: rs121918091,
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|
gnomAD: rs121918091,
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|
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ClinVar: RCV000014395, RCV000236623, RCV000763027, RCV002433455
|
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|
|
</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Ii et al. (1991) described a phe64-to-leu (F64L) mutation in transthyretin in an American patient of Italian origin with amyloid polyneuropathy (AMYLD1; 105210). Ferlini et al. (1996) described the same mutation in a family originating in Pescara in Central Italy with several members affected by amyloid polyneuropathy and in a single case in a man who had been adopted as a baby. The 6 affected members in 2 generations of the family were affected by polyneuropathy and/or cardiomyopathy with the onset of the disease in the seventh decade of life. In the sporadic case, onset was at 49 years and the disorder progressed rapidly so that the patient was tetraplegic by the age of 53 years. Whereas the familial cases were heterozygous, the sporadic case appeared to be homozygous. A son of the presumed homozygote was asymptomatic with a normal neurologic examination at the age of 36 years, but was heterozygous by molecular analysis. </p>
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</span>
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0038 DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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TTR, ALA109VAL
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<br />
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SNP: rs121918092,
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gnomAD: rs121918092,
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ClinVar: RCV000014396, RCV000714133, RCV001056317, RCV001173297, RCV002354162
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>Refetoff et al. (1996) investigated a family with dominantly inherited euthyroid hyperthyroxinemia (DTTRH; 145680) in which 2 of 8 affected members had ablative thyroid treatment for presumed thyrotoxicosis, and one was misdiagnosed as having resistance to thyroid hormone. All affected individuals had above-normal serum reverse T3 levels, mean T4 levels 50% above those of their unaffected relatives, and total T3 and TSH levels within the normal range. While loss of the BsoFI site in 1 TTR allele suggested the presence of an ala109-to-thr substitution (176300.0015), sequencing of the TTR gene revealed a GCC-to-GTC mutation in codon 109 that produces an ala109-to-val substitution. Association constants for T4-binding to TTR-ala109, -thr109, and -val109 were 1.3, 13.6, and 9.5 x 10 -7 M(-1), respectively. Thus, the TTR-val109 variant has an affinity for T4 which approaches that of TTR-thr109 and is sufficient to produce consistent hyperthyroxinemia in heterozygotes. Assuming that mutant and normal alleles are equally expressed and that 20% of serum T4 is bound to TTR, the calculated mean serum T4 levels of TTR-val109 heterozygotes is increased 50%, agreeing with the observed 55% increase. </p>
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|
</span>
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</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0039 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
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|
TTR, VAL20ILE
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<br />
|
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SNP: rs121918093,
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|
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gnomAD: rs121918093,
|
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ClinVar: RCV000014397, RCV000159420, RCV002336083
|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a German 3-generation family, Jenne et al. (1996) identified a 'new' amyloidogenic val20-to-ile (V20I) mutation in the TTR gene. The index patient suffered from severe amyloid cardiomyopathy (AMYLD1; 105210) at the age of 60. Conformational stability and unfolding behavior of the mutant ile20 monomer in urea gradients was found to be almost indistinguishable from that of wildtype TTR. In contrast, tetramer stability was significantly reduced in agreement with the expected change in the interactions between 2 opposing dimers via the side chain of ile20. The TTR molecule consists of 4 identical, noncovalently linked subunits of 127 amino acids each that form a pair of dimers in the plasma protein complex. The observations of Jenne et al. (1996) led them to conclude that amyloidogenic amino acid substitutions in TTR facilitate the conversion of tetrameric TTR complexes into conformational intermediates of the TTR folding pathway that have an intrinsic amyloidogenic potential. </p><p>Independently, Jacobson et al. (1997) found the V20I mutation in a 50-year-old white man with a 2-year history of exertional epigastric distress, occasional lightheadedness without syncope, and a 1-year history of symptoms consistent with carpal tunnel syndrome. The patient had previously been diagnosed with congestive heart failure and treated with a diuretic. The patient showed mild postural hypotension. Orthotopic cardiac transplantation was performed. The patient's mother had bilateral carpal tunnel release at age 70 and symptoms and findings consistent with cardiac amyloidosis in her late seventies. Three of her brothers had died of heart failure after age 70. </p>
|
|
</span>
|
|
</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0040 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, PHE33LEU
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<br />
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SNP: rs121918068,
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ClinVar: RCV000014398, RCV001810860, RCV002390108
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Amyloid polyneuropathy has been related to a phe33-to-ile mutation in transthyretin (F33I; 176300.0002). Familial amyloidosis (AMYLD1; 105210) due to a phe33-to-leu (F33L) mutation was reported in one patient by Ii et al. (1991) and Harding et al. (1991) and in another patient by Myers et al. (1998). In both instances the patient was of Polish-American ethnicity, had no family history of amyloidosis, and had a late onset of symptoms. In the patient who was doubly reported, onset was at age 53 with paresthesias, sensory loss, and areflexia of the lower limbs due to a sensorimotor polyneuropathy along with constipation, impotence, and orthostatic hypotension due to autonomic neuropathy. The patient progressed to upper- and lower-limb sensorimotor polyneuropathy and an infiltrative cardiomyopathy. The patient reported by Myers et al. (1998) initially presented with symptomatic ascites and showed asymptomatic mild peripheral neuropathy, carpal tunnel syndrome, and mild cardiomyopathy at the age of 65 years. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0041 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, LEU12PRO
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<br />
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SNP: rs121918094,
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ClinVar: RCV000014399, RCV001001339
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Brett et al. (1999) described the case of a middle-aged woman with a leu12-to-pro (L12P) mutation of the TTR gene product, an extensive amyloid deposition in the leptomeninges and liver as well as the involvement of the heart and peripheral nervous system, typical of familial amyloid polyneuropathy caused by variant TTR (AMYLD1; 105210). Clinical features attributed to her leptomeningeal amyloid included radiculopathy, central hypoventilation, recurrent subarachnoid hemorrhage, depression, seizures, and periods of decreased consciousness. MRI showed a marked enhancement throughout her meninges and ependyma, and TTR amyloid deposition was confirmed by meningeal biopsy. The simultaneous presence of extensive visceral amyloid and clinically significant deposits affecting both peripheral and central nervous system extended the spectrum of amyloid-related disease associated with TTR mutations. Brett et al. (1999) suggested that leptomeningeal amyloidosis should be considered part of the syndrome of TTR-related familial amyloid polyneuropathy. Their index case was 38 years old when she first began to notice easy bruising. Five years later she began to get persistent headaches, and 6 months later presented with severe headache of sudden onset. CT and lumbar puncture confirmed subarachnoid blood, but angiograms showed no definite bleeding point. Two months later she had another subarachnoid bleed. About 4 years later, she started to notice hearing loss bilaterally, increasingly severe headaches, unsteadiness, urinary frequency, incomplete bladder emptying, and poor urinary stream. A CT scan showed hydrocephalus; insertion of a right lateral ventriculoperitoneal shunt was complicated by a small subdural hematoma. After the shunt, her unsteadiness and urinary symptoms partially improved. After a complicated and distressing course the patient died at the age of 53 years. The family history showed that the mother had committed suicide at the age of 62 after 2 years of depression and physical illness that included urinary symptoms, constipation, and falls. However, histologic study of sections of heart, lung, and kidney from the mother's postmortem material showed no amyloid. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0042 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, ARG104HIS
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<br />
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SNP: rs121918095,
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gnomAD: rs121918095,
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ClinVar: RCV000014400, RCV000152543, RCV000586735, RCV000621591, RCV001170383, RCV001173296
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 64-year-old Japanese male suffering from very slowly progressive amyloidosis (AMYLD1; 105210), Terazaki et al. (1999) demonstrated compound heterozygosity for an arg104-to-his (R104H) mutation in the TTR gene, which was present in heterozygous state in his father, and the val30-to-met mutation (V30M; 176300.0001), which was present in heterozygous state in his mother. The total TTR and retinol-binding protein (see 180260) concentrations in the serum samples of the proband were very high compared with those of patients with the val30-to-met mutation and control subjects. The patient showed decreased visual acuity due to glaucoma and vitreous opacity. Sensory disturbances were present below the knee with mild muscle weakness of the peripheral muscle groups in the upper and lower extremities. Autonomic dysfunction was also found with signs of gastrointestinal, bladder, and pupillary abnormalities. He had undergone a vitrectomy 10 years prior to the report because of amyloid deposits. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0043 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, GLY47ARG, G-A
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<br />
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SNP: rs387906523,
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ClinVar: RCV000014401
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Ferlini et al. (2000) described an gly47-to-arg (G47R) mutation in the TTR gene resulting in amyloidotic polyneuropathy (AMYLD1; 105210) due not to a G-to-C transversion in the first nucleotide of codon 47 (CGG; see 176300.0020), but to a G-to-A transition in the first nucleotide (AGG). The proband presented at the age of 19 years with progressive muscle weakness and atrophy. Skin biopsy was positive for amyloid by Congo Red staining. Echocardiography showed restrictive cardiomyopathy. By the age of 25 years, he developed peripheral polyneuropathy and had an episode of congestive heart failure. The mother and 2 maternal uncles had generalized muscle atrophy and cardiac failure and died in their forties. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0044 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, VAL122DEL
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<br />
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SNP: rs121918096,
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ClinVar: RCV000014402, RCV004791221
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>Uemichi et al. (1997) described a trinucleotide deletion in the transthyretin gene leading to loss of valine-122 (V122del) in a patient of Ecuadorian origin with familial amyloid polyneuropathy (AMYLD1; 105210). The patient had onset, at 57 years of age, of numbness and paresthesia in the legs, later developing sexual impotence, alternating constipation and diarrhea, urinary frequency, difficulty in walking, and cardiac involvement. Munar-Ques et al. (2000) reported a Spanish family from Granada with the same TTR val122 deletion. The proposita, a 51-year-old female, and her 4 sibs all presented with carpal tunnel syndrome. The next manifestation was progressive cardiac failure due to restrictive cardiomyopathy consistent with the finding of amyloid deposits seen on echocardiography. In later years, all were handicapped by a progressive lower limb sensorimotor neuropathy. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0045 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, PHE44SER
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<br />
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SNP: rs104894665,
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ClinVar: RCV000014403, RCV002408461
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In an American patient of Irish descent with amyloid peripheral neuropathy (AMYLD1; 105210), Klein et al. (1998) identified a phe44-to-ser (F44S) mutation in the TTR gene. </p><p>Murakami et al. (2002) reported vitreous amyloidosis in a Japanese patient with the ser44 mutation in transthyretin, which had not previously been shown to cause vitreous opacities. The patient's visual acuity improved from 20/200 to 20/20 after pars plana vitrectomy. The patient had few signs of systemic amyloidosis. The authors noted that the patient reported by Klein et al. (1998) had no ocular symptoms. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0046 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, GLY53GLU
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<br />
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|
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SNP: rs121918097,
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|
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ClinVar: RCV004555832
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 French sibs with leptomeningeal amyloidosis (AMYLD1; 105210), Ellie et al. (2001) identified a heterozygous G-to-A transition in the TTR gene, resulting in the replacement of glycine by glutamic acid at codon 53 (G53E). Two of the patients experienced recurrent subarachnoid hemorrhages and the third had headaches and episodic weakness and dysphasia. MRI of all 3 patients showed leptomeningeal enhancement. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0047 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
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TTR, ASP18GLY
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<br />
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|
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SNP: rs121918098,
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ClinVar: RCV000036373
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|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Hungarian family with meningocerebrovascular amyloidosis (AMYLD1; 105210), Garzuly et al. (1996) and Vidal et al. (1996) identified a mutation in the transthyretin gene, resulting in an asp18-to-gly (D18G) substitution. </p>
|
|
</span>
|
|
</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0048 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
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TTR, PHE64SER
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|
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<br />
|
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|
|
SNP: rs104894665, rs121918099,
|
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ClinVar: RCV000014403, RCV002408461
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of the family with oculoleptomeningeal amyloidosis (AMYLD1; 105210) reported by Uitti et al. (1988), Uemichi et al. (1999) identified a heterozygous 3293T-C transition in the TTR gene, resulting in a phe64-to-ser (F64S) substitution. The authors noted that another mutation in codon 64 (176300.0037) had been described in a family with amyloidosis without CNS involvement. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0049 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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TTR, VAL30GLY
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<br />
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SNP: rs79977247,
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ClinVar: RCV001857350
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a family with oculoleptomeningeal amyloidosis (AMYLD1; 105210) reported by Goren et al. (1980), Petersen et al. (1995) identified a mutation in the TTR gene, resulting in a val30-to-gly (V30G) substitution (see also Petersen et al., 1997. Other mutations in this codon have been found in patients with a clinically distinct amyloid polyneuropathy (see, e.g., 176300.0001, 176300.0014), and 176300.0024). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0050 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TTR, TYR69HIS
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<br />
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SNP: rs121918100,
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ClinVar: RCV000586493, RCV001811140, RCV002426504
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a large Swedish family with autosomal dominant oculoleptomeningeal amyloidosis (AMYLD1; 105210) characterized by seizures, dementia, stroke-like episodes, ataxia, and vitreous amyloid in some, Blevins et al. (2003) identified a heterozygous mutation in the TTR gene, resulting in a tyr69-to-his substitution (Y69H). </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0051 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
|
|
</span>
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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TTR, ALA25THR
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<br />
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SNP: rs104894664,
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ClinVar: RCV000014379
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 53-year-old Japanese man with leptomeningeal amyloidosis (AMYLD1; 105210), Hagiwara et al. (2009) identified a heterozygous mutation in the TTR gene, resulting in an ala25-to-thr (A25T) substitution. The patient presented at age 48 years with chronic progressive polyradiculoneuropathy, severe sensory ataxia, bilateral sensorineural hearing loss, and cerebellar ataxia. There was no visceral organ involvement. He died at age 52 of multiple intracranial hemorrhages. Postmortem examination showed dense hyaline material in the piaarachnoid and leptomeningeal vessels of the brain that were positive for anti-TTR antibodies. Amyloid deposits involved the adventitia, media, and external elastic lamina of the vessels. The spinal cord was compressed by thickened leptomeninges, in which massive amyloid deposits and reactive connective tissue formation were observed. There was no visceral organ involvement. Hagiwara et al. (2009) referred to the studies of Sekijima et al. (2005) who showed that the TTR A25T variant had faster homotetrameric dissociation rates compared to other TTR variants and could be secreted more efficiently into the CNS by the choroid plexus via a T4-chaperoning mechanism. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0052 AMYLOIDOSIS, HEREDITARY SYSTEMIC 1</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
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TTR, ALA97SER
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<br />
|
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SNP: rs267607161,
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gnomAD: rs267607161,
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ClinVar: RCV000014410, RCV000223869, RCV002453260, RCV002496359
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 5 unrelated Chinese Taiwanese patients with TTR-related amyloidosis (AMYLD1; 105210), Liu et al. (2008) identified a heterozygous 349G-T transversion in exon 4 of the TTR gene, resulting in an ala97-to-ser (A97S) substitution in a highly conserved residue. The phenotype consisted of late-onset polyneuropathy, carpal tunnel syndrome, and autonomic dysfunction particularly affecting the gastrointestinal tract. Heart was the most frequently involved vital organ. Haplotype analysis suggested independent origins for the mutation. </p><p>Yang et al. (2010) identified the A97S mutation in 19 unrelated Taiwanese patients with a generalized disabling polyneuropathy. The age at symptom onset ranged from 48 to 68 years, and severe disease progression occurred within 5 years. All had motor, sensory, and autonomic symptoms with loss of sensation to thermal stimuli and loss of proprioception. Sural nerve biopsies showed an eosinophilic deposition of TTR-positive amyloid and a pattern of axonal degeneration with loss of large and small myelinated fibers. Skin biopsies of all patients showed a severe loss of intraepidermal nerve fiber density and sparse degenerated fragmented dermal nerve fibers compared to controls; the degree of loss of these fibers correlated with clinical severity. The mutation was not found in 365 Taiwanese controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
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Andrade et al. (1969); Becker et al. (1963); Benson and Dwulet
|
|
(1985); Benson et al. (1993); Benson (1981); Block et al. (1956);
|
|
Coelho et al. (1994); Cohen et al. (1978); Cohen (1967); Cohen
|
|
(1972); Dwulet and Benson (1983); Franklin (1979); Gorevic et al.
|
|
(1982); Heller et al. (1964); Hortajda et al. (1964); Husby et al.
|
|
(1985); Ide et al. (1986); Ikeda et al. (1987); Itoga and Kito
|
|
(1982); Lalloz et al. (1987); Lessell et al. (1975); Nakazato et al.
|
|
(1984); Nordlie et al. (1988); Rubinow and Cohen (1981); Rubinow and
|
|
Cohen (1986); Rukavina et al. (1993); Sack et al. (1981); Sakoda et
|
|
al. (1983); Saraiva et al. (1984); Saraiva et al. (1983); Saraiva et
|
|
al. (1986); Sasaki et al. (1985); Schlesinger et al. (1962);
|
|
Sequeiros and Saraiva (1987); Shoji and Okano (1981); Skinner and
|
|
Cohen (1981); Skinner et al. (1985); Steen and Ek (1983); Tsuzuki et
|
|
al. (1985); Wada et al. (1986); Wallace et al. (1985); Wallace et al.
|
|
(1985); Whitehouse et al. (1985); Yoshioka et al. (1986)
|
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
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Clin. Res. 28: 340A, 1980.
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<p class="mim-text-font">
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J. Clin. Invest. 67: 1035-1041, 1981.
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[PubMed: 6782125]
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</p>
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<li>
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<p class="mim-text-font">
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|
Benson, M. D.
|
|
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|
|
Indianapolis, Ind. 12/22/1986.
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</p>
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<li>
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<p class="mim-text-font">
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|
Benson, M. D.
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|
<strong>Personal Communication.</strong>
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|
Indianapolis, Ind. 12/8/1988.
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</p>
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<p class="mim-text-font">
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<strong>Inherited amyloidosis.</strong>
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J. Med. Genet. 28: 73-78, 1991.
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[PubMed: 1848299]
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[Full Text: https://doi.org/10.1136/jmg.28.2.73]
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</p>
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Benson, M. D.
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Am. J. Med. 93: 1-2, 1992.
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Ada Hamosh - updated : 06/14/2018<br>Ada Hamosh - updated : 1/20/2015<br>Cassandra L. Kniffin - updated : 10/22/2010<br>Cassandra L. Kniffin - updated : 8/16/2010<br>Anne M. Stumpf - reorganized : 2/18/2010<br>Cassandra L. Kniffin - updated : 3/9/2009<br>Marla J. F. O'Neill - updated : 1/8/2009<br>George E. Tiller - updated : 2/5/2008<br>Victor A. McKusick - updated : 2/5/2008<br>Cassandra L. Kniffin - updated : 12/21/2005<br>Stylianos E. Antonarakis - updated : 1/10/2005<br>Marla J. F. O'Neill - edited : 7/20/2004<br>Victor A. McKusick - updated : 5/12/2004<br>Marla J. F. O'Neill - updated : 5/3/2004<br>Jane Kelly - updated : 3/18/2003<br>Ada Hamosh - updated : 2/13/2003<br>Victor A. McKusick - updated : 1/30/2003<br>Victor A. McKusick - updated : 1/22/2003<br>Cassandra L. Kniffin - updated : 11/13/2002<br>Jane Kelly - updated : 11/5/2002<br>Cassandra L. Kniffin - updated : 6/11/2002<br>Victor A. McKusick - updated : 6/10/2002<br>Victor A. McKusick - updated : 1/9/2002<br>Victor A. McKusick - updated : 12/21/2001<br>Victor A. McKusick - updated : 11/9/2001<br>Ada Hamosh - updated : 10/9/2001<br>Victor A. McKusick - updated : 6/22/2001<br>Victor A. McKusick - updated : 12/18/2000<br>Stylianos E. Antonarakis - updated : 12/14/2000<br>Victor A. McKusick - updated : 9/1/2000<br>Victor A. McKusick - updated : 6/5/2000<br>Victor A. McKusick - updated : 1/19/2000<br>Victor A. McKusick - updated : 12/16/1999<br>Victor A. McKusick - updated : 11/18/1999<br>Michael J. Wright - updated : 10/28/1999<br>Victor A. McKusick - updated : 8/31/1999<br>Victor A. McKusick - updated : 4/28/1999<br>Victor A. McKusick - updated : 2/14/1999<br>Victor A. McKusick - updated : 2/3/1999<br>Victor A. McKusick - updated : 6/10/1998<br>Victor A. McKusick - updated : 10/10/1997<br>Victor A. McKusick - updated : 6/21/1997<br>Victor A. McKusick - updated : 3/16/1997<br>John A. Phillips, III - updated : 10/30/1996<br>Orest Hurko - updated : 2/5/1996
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Victor A. McKusick : 6/2/1986
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alopez : 05/20/2024<br>carol : 04/05/2024<br>alopez : 04/03/2024<br>alopez : 11/18/2022<br>carol : 06/29/2022<br>carol : 06/27/2022<br>carol : 06/21/2022<br>carol : 06/20/2022<br>carol : 06/09/2022<br>carol : 04/19/2022<br>carol : 01/20/2022<br>carol : 08/16/2019<br>carol : 06/21/2019<br>carol : 06/18/2018<br>carol : 06/15/2018<br>alopez : 06/14/2018<br>carol : 08/23/2016<br>joanna : 08/23/2016<br>carol : 07/09/2016<br>carol : 7/9/2016<br>alopez : 1/20/2015<br>carol : 9/10/2014<br>alopez : 12/3/2012<br>alopez : 12/3/2012<br>alopez : 7/6/2012<br>terry : 4/10/2012<br>alopez : 2/29/2012<br>wwang : 11/2/2010<br>ckniffin : 10/22/2010<br>wwang : 8/25/2010<br>ckniffin : 8/16/2010<br>terry : 4/1/2010<br>alopez : 2/19/2010<br>alopez : 2/19/2010<br>alopez : 2/18/2010<br>alopez : 2/18/2010<br>alopez : 11/5/2009<br>joanna : 10/29/2009<br>alopez : 10/29/2009<br>wwang : 3/18/2009<br>ckniffin : 3/9/2009<br>terry : 2/9/2009<br>terry : 2/9/2009<br>terry : 2/9/2009<br>terry : 2/6/2009<br>carol : 1/14/2009<br>carol : 1/8/2009<br>carol : 7/3/2008<br>wwang : 2/6/2008<br>terry : 2/5/2008<br>terry : 2/5/2008<br>carol : 2/5/2008<br>joanna : 2/5/2008<br>alopez : 7/5/2007<br>carol : 1/4/2006<br>ckniffin : 12/21/2005<br>mgross : 1/10/2005<br>carol : 7/21/2004<br>terry : 7/20/2004<br>tkritzer : 5/18/2004<br>terry : 5/12/2004<br>carol : 5/5/2004<br>terry : 5/3/2004<br>carol : 4/30/2004<br>carol : 4/16/2004<br>carol : 3/17/2004<br>tkritzer : 9/8/2003<br>ckniffin : 9/3/2003<br>carol : 8/8/2003<br>ckniffin : 8/6/2003<br>cwells : 5/9/2003<br>cwells : 3/18/2003<br>alopez : 2/25/2003<br>terry : 2/13/2003<br>carol : 1/31/2003<br>terry : 1/30/2003<br>cwells : 1/27/2003<br>tkritzer : 1/22/2003<br>carol : 1/7/2003<br>cwells : 11/26/2002<br>ckniffin : 11/13/2002<br>carol : 11/5/2002<br>cwells : 7/2/2002<br>carol : 6/17/2002<br>ckniffin : 6/11/2002<br>ckniffin : 6/11/2002<br>ckniffin : 6/11/2002<br>terry : 6/10/2002<br>carol : 1/19/2002<br>mcapotos : 1/15/2002<br>terry : 1/9/2002<br>cwells : 1/9/2002<br>cwells : 1/3/2002<br>terry : 12/21/2001<br>joanna : 12/21/2001<br>terry : 11/9/2001<br>alopez : 10/10/2001<br>terry : 10/9/2001<br>mcapotos : 7/5/2001<br>mcapotos : 6/26/2001<br>terry : 6/22/2001<br>terry : 3/21/2001<br>mcapotos : 1/4/2001<br>mcapotos : 1/2/2001<br>terry : 12/18/2000<br>mgross : 12/14/2000<br>mcapotos : 9/1/2000<br>mcapotos : 6/14/2000<br>mcapotos : 6/12/2000<br>terry : 6/5/2000<br>mcapotos : 1/27/2000<br>mcapotos : 1/21/2000<br>terry : 1/19/2000<br>alopez : 1/14/2000<br>mgross : 1/10/2000<br>terry : 12/16/1999<br>mgross : 12/7/1999<br>terry : 11/18/1999<br>alopez : 10/28/1999<br>jlewis : 8/31/1999<br>terry : 5/20/1999<br>carol : 5/12/1999<br>terry : 5/11/1999<br>alopez : 5/10/1999<br>terry : 4/28/1999<br>mgross : 3/16/1999<br>carol : 2/14/1999<br>carol : 2/12/1999<br>terry : 2/3/1999<br>terry : 6/18/1998<br>carol : 6/10/1998<br>dholmes : 6/10/1998<br>alopez : 5/14/1998<br>alopez : 12/16/1997<br>mark : 10/16/1997<br>terry : 10/10/1997<br>alopez : 7/30/1997<br>alopez : 7/16/1997<br>alopez : 7/10/1997<br>jenny : 7/9/1997<br>terry : 6/24/1997<br>alopez : 6/23/1997<br>terry : 6/21/1997<br>mark : 3/16/1997<br>terry : 3/10/1997<br>terry : 1/24/1997<br>terry : 1/22/1997<br>terry : 11/21/1996<br>jamie : 11/15/1996<br>jamie : 11/6/1996<br>jamie : 10/30/1996<br>mark : 7/9/1996<br>carol : 4/22/1996<br>carol : 4/19/1996<br>terry : 4/19/1996<br>mark : 4/18/1996<br>terry : 4/11/1996<br>mark : 2/19/1996<br>terry : 2/15/1996<br>terry : 2/6/1996<br>mark : 2/5/1996<br>terry : 1/30/1996<br>mark : 1/24/1996<br>mark : 1/22/1996<br>mark : 9/17/1995<br>terry : 4/19/1995<br>mimadm : 2/25/1995<br>carol : 1/31/1995<br>davew : 8/1/1994<br>warfield : 4/21/1994
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