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Entry
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- *159440 - MYELIN PROTEIN ZERO; MPZ
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- OMIM
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</form>
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*159440</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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<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="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</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="#geneFunction">Gene Function</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="#cytogenetics">Cytogenetics</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="#animalModel">Animal Model</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/159440">Table View</a>
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</li>
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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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</li>
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</ul>
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</nav>
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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=ENSG00000158887;t=ENST00000533357" 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=4359" 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=159440" 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=ENSG00000158887;t=ENST00000533357" 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_000530,NM_001315491,XM_017001321" 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_000530" 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=159440" 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=01159&isoform_id=01159_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/MPZ" 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/127721,220074,437049,469517,498894,529405,2160399,13676320,30582369,119572990,119572991,189069298,295391071,937231667,1034558673,2462509344" 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/P25189" 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=4359" 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=ENSG00000158887;t=ENST00000533357" 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=MPZ" 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=MPZ" 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+4359" 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/MPZ" 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:4359" 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/4359" 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=chr1&hgg_gene=ENST00000533357.5&hgg_start=161303600&hgg_end=161309968&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:7225" 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/mpz" 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=159440[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=159440[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/MPZ/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/ENSG00000158887" 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.gwascentral.org/search?q=MPZ" 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=MPZ" 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.molgen.ua.ac.be/CMTMutations/" 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=MPZ&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/PA30930" 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:7225" 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://www.mousephenotype.org/data/genes/MGI:103177" 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/MPZ#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:103177" 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/4359/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://omia.org/OMIA002739/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=4359" 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="https://zfin.org/ZDB-GENE-010724-4" 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:159440" 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:4359" 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=MPZ&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 42986003, 45853006, 717013009, 717014003, 765747004<br />
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<strong>ICD10CM:</strong> G60.0<br />
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">ICD+</a>
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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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159440
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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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MYELIN PROTEIN ZERO; MPZ
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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>
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<h4>
|
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<span class="mim-font">
|
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MYELIN GLYCOPROTEIN P-ZERO; P0<br />
|
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MYELIN PROTEIN, PERIPHERAL; MPP
|
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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">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MPZ" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MPZ</a></em></strong>
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</span>
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</p>
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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>
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Cytogenetic location: <a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348">1q23.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:161303600-161309968&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'})">1:161,303,600-161,309,968</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</p>
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<br />
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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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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<span class="hidden-sm hidden-xs pull-right">
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<a href="/clinicalSynopsis/table?mimNumber=607791,118200,607677,607736,145900,618184,180800" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
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View Clinical Synopses
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</a>
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</span>
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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="7">
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<span class="mim-font">
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<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348">
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1q23.3
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</a>
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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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Charcot-Marie-Tooth disease, dominant intermediate D
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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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<a href="/entry/607791"> 607791 </a>
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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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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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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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Charcot-Marie-Tooth disease, type 1B
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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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<a href="/entry/118200"> 118200 </a>
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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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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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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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Charcot-Marie-Tooth disease, type 2I
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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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<a href="/entry/607677"> 607677 </a>
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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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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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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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Charcot-Marie-Tooth disease, type 2J
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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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<a href="/entry/607736"> 607736 </a>
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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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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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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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Dejerine-Sottas disease
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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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<a href="/entry/145900"> 145900 </a>
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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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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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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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Hypomyelinating neuropathy, congenital, 2
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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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<a href="/entry/618184"> 618184 </a>
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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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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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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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Roussy-Levy syndrome
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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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<a href="/entry/180800"> 180800 </a>
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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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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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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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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/159440" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/159440" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<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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</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="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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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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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Myelin protein-zero is the major structural protein of peripheral myelin.</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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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#16" class="mim-tip-reference" title="Hayasaka, K., Nanao, K., Tahara, M., Sato, W., Takada, G., Miura, M., Uyemura, K. <strong>Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin.</strong> Biochem. Biophys. Res. Commun. 180: 515-518, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1719967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1719967</a>] [<a href="https://doi.org/10.1016/s0006-291x(05)81094-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1719967">Hayasaka et al. (1991)</a> isolated a full-length MPZ cDNA from a fetal spinal cord cDNA library. The deduced 248-amino acid protein was highly homologous to the P0 protein from other species. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1719967" 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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</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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<a id="geneStructure" class="mim-anchor"></a>
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<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<div id="mimGeneStructureFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
|
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<p><a href="#13" class="mim-tip-reference" title="Hayasaka, K., Himoro, M., Sato, W., Takada, G., Uyemura, K., Shimizu, N., Bird, T. D., Conneally, P. M., Chance, P. F. <strong>Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P(0) gene.</strong> Nature Genet. 5: 31-34, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7693129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7693129</a>] [<a href="https://doi.org/10.1038/ng0993-31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7693129">Hayasaka et al. (1993)</a> stated that the MPZ gene contains 6 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7693129" 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="#67" class="mim-tip-reference" title="You, K.-H., Hsieh, C.-L., Hayes, C., Stahl, N., Francke, U., Popko, B. <strong>DNA sequence, genomic organization, and chromosomal localization of the mouse peripheral myelin protein zero gene: identification of polymorphic alleles.</strong> Genomics 9: 751-757, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1709914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1709914</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90370-t" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1709914">You et al. (1991)</a> found that the Mpz gene in the mouse, like that in the rat, contains 6 exons that span about 7 kb of genomic DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1709914" 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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</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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<a id="mapping" class="mim-anchor"></a>
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<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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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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<div id="mimMappingFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>In connection with the construction of a physical map of human 1q21-q23, <a href="#42" class="mim-tip-reference" title="Oakey, R. J., Watson, M. L., Seldin, M. F. <strong>Construction of a physical map on mouse and human chromosome 1: comparison of 13 Mb of mouse and 11 Mb of human DNA.</strong> Hum. Molec. Genet. 1: 613-620, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1301170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1301170</a>] [<a href="https://doi.org/10.1093/hmg/1.8.613" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1301170">Oakey et al. (1992)</a> assigned the human gene, which they symbolized MPP, to a position close to FCGR2A (<a href="/entry/146790">146790</a>) and APOA2 (<a href="/entry/107670">107670</a>). By spot-blot hybridization of flow-sorted chromosomes and by fluorescence in situ hybridization, <a href="#15" class="mim-tip-reference" title="Hayasaka, K., Himoro, M., Wang, Y., Takata, M., Minoshima, S., Shimizu, N., Miura, M., Uyemura, K., Takada, G. <strong>Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ).</strong> Genomics 17: 755-758, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7503936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7503936</a>] [<a href="https://doi.org/10.1006/geno.1993.1400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7503936">Hayasaka et al. (1993)</a> mapped the MPZ gene to 1q22-q23 in the region of the CMT1B locus (<a href="/entry/118200">118200</a>). <a href="#56" class="mim-tip-reference" title="Su, Y., Brooks, D. G., Li, L., Lepercq, J., Trofatter, J. A., Ravetch, J. V., Lebo, R. V. <strong>Myelin protein zero gene mutated in Charcot-Marie-Tooth type 1B patients.</strong> Proc. Nat. Acad. Sci. 90: 10856-10860, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504284</a>] [<a href="https://doi.org/10.1073/pnas.90.22.10856" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7504284">Su et al. (1993)</a> mapped the MPZ gene physically 130 kb centromeric to the Fc receptor immunoglobulin gene cluster in band 1q22. By in situ hybridization, <a href="#44" class="mim-tip-reference" title="Pham-Dinh, D., Fourbil, Y., Blanquet, F., Mattei, M.-G., Roeckel, N., Latour, P., Chazot, G., Vandenberghe, A., Dautigny, A. <strong>The major peripheral myelin protein zero gene: structure and localization in the cluster of Fc-gamma receptor genes on human chromosome 1q21.3-q23.</strong> Hum. Molec. Genet. 2: 2051-2054, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7509228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7509228</a>] [<a href="https://doi.org/10.1093/hmg/2.12.2051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7509228">Pham-Dinh et al. (1993)</a> assigned the MPZ gene to 1q21.3-q23, probably 1q22, and also demonstrated that the MPZ gene and the FCGR2A gene are located on the same YAC fragment within about 130 kb of each other. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7504284+1301170+7509228+7503936" 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="#67" class="mim-tip-reference" title="You, K.-H., Hsieh, C.-L., Hayes, C., Stahl, N., Francke, U., Popko, B. <strong>DNA sequence, genomic organization, and chromosomal localization of the mouse peripheral myelin protein zero gene: identification of polymorphic alleles.</strong> Genomics 9: 751-757, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1709914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1709914</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90370-t" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1709914">You et al. (1991)</a> mapped the mouse Mpz gene to chromosome 1 by Southern analysis of a Chinese hamster/mouse somatic cell hybrid panel. Using polymorphic restriction enzyme sites in the study of recombinant inbred strains, they linked the gene to genes in a region corresponding to band 1H3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1709914" 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>Myelin protein-zero is the major structural protein of peripheral myelin, accounting for more than 50% of the protein present in the sheath of peripheral nerves. Expression of the MPZ gene is restricted to Schwann cells; MPZ is not found in the CNS. An integral membrane glycoprotein of 28 kD, MPZ is thought to link adjacent lamellae and thereby stabilize the myelin assembly. The other 3 major components of myelin are myelin basic protein (MBP; <a href="/entry/159430">159430</a>), myelin proteolipid protein (PLP1; <a href="/entry/300401">300401</a>), and myelin-associated glycoprotein (MAG; <a href="/entry/159460">159460</a>); see reviews of <a href="#30" class="mim-tip-reference" title="Lemke, G. <strong>Molecular biology of the major myelin genes.</strong> Trends Neurosci. 9: 266-270, 1986."None>Lemke (1986)</a> and <a href="#57" class="mim-tip-reference" title="Sutcliffe, J. G. <strong>The genes for myelin.</strong> Trends Genet. 3: 73-76, 1987."None>Sutcliffe (1987)</a>.</p>
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<p>Mutations in the MPZ gene are associated with the autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B; <a href="/entry/118200">118200</a>), which is characterized by progressive slowing of nerve conduction and hypertrophy of Schwann cells. Mutations in MPZ can also produce the more severe polyneuropathies, Dejerine-Sottas syndrome (DSS; <a href="/entry/145900">145900</a>) and congenital hypomyelinating neuropathy-2 (CHN2; <a href="/entry/618184">618184</a>), as well as several types of axonal CMT2 (see, e.g., <a href="/entry/607677">607677</a>) and a form of dominant intermediate CMT (CMTDID; <a href="/entry/607791">607791</a>).</p><p>In 2 families with CMT1B, <a href="#13" class="mim-tip-reference" title="Hayasaka, K., Himoro, M., Sato, W., Takada, G., Uyemura, K., Shimizu, N., Bird, T. D., Conneally, P. M., Chance, P. F. <strong>Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P(0) gene.</strong> Nature Genet. 5: 31-34, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7693129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7693129</a>] [<a href="https://doi.org/10.1038/ng0993-31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7693129">Hayasaka et al. (1993)</a> identified mutations in the MPZ gene (<a href="#0001">159440.0001</a>-<a href="#0002">159440.0002</a>). <a href="#46" class="mim-tip-reference" title="Roa, B. B., Warner, L. E., Garcia, C. A., Russo, D., Lovelace, R., Chance, P. F., Lupski, J. R. <strong>Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.</strong> Hum. Mutat. 7: 36-45, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8664899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8664899</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<36::AID-HUMU5>3.0.CO;2-N" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8664899">Roa et al. (1996)</a> surveyed 70 unrelated patients with demyelinating polyneuropathy for mutations in the MPZ gene. The 1.5-Mb DNA duplication on chromosome 17p12-p11.2 associated with Charcot-Marie-Tooth disease type 1A (<a href="/entry/118220">118220</a>) was not present. An ile135-to-thr substitution (<a href="#0007">159440.0007</a>) in MPZ exon 3 was found in a family with clinically severe early-onset CMT1, and an exon 3 mutation encoding a gly137-to-ser (<a href="#0008">159440.0008</a>) substitution was identified in a second CMT1 family. The mutations predicted amino acid substitutions in the extracellular domain of the MPZ protein. The observations confirmed the role of MPZ in CMT1B, but suggested to <a href="#46" class="mim-tip-reference" title="Roa, B. B., Warner, L. E., Garcia, C. A., Russo, D., Lovelace, R., Chance, P. F., Lupski, J. R. <strong>Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.</strong> Hum. Mutat. 7: 36-45, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8664899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8664899</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<36::AID-HUMU5>3.0.CO;2-N" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8664899">Roa et al. (1996)</a> that MPZ coding region mutations account for only a limited percentage of disease-causing mutations in nonduplication CMT1 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7693129+8664899" 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 sibs with autosomal recessive DSS, <a href="#63" class="mim-tip-reference" title="Warner, L. E., Hilz, M. J., Appel, S. H., Killian, J. M., Kolodny, E. H., Karpati, G., Carpenter, S., Watters, G. V., Wheeler, C., Witt, D., Bodell, A., Nelis, E., Van Broeckhoven, C., Lupski, J. R. <strong>Clinical phenotypes of different MPZ(P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.</strong> Neuron 17: 451-460, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8816708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8816708</a>] [<a href="https://doi.org/10.1016/s0896-6273(00)80177-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8816708">Warner et al. (1996)</a> identified homozygosity for a gly74 frameshift mutation in the MPZ gene (<a href="#0025">159440.0025</a>). <a href="#18" class="mim-tip-reference" title="Ikegami, T., Nicholson, G., Ikeda, H., Ishida, A., Johnston, H., Wise, G., Ouvrier, R., Hayasaka, K. <strong>A novel homozygous mutation of the myelin P(0) gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).</strong> Biochem. Biophys. Res. Commun. 222: 107-110, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630052</a>] [<a href="https://doi.org/10.1006/bbrc.1996.0705" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630052">Ikegami et al. (1996)</a> likewise observed the DSS phenotype with homozygosity for mutation in the MPZ gene. The findings are parallel to those found with homozygosity for the PMP22 gene (<a href="/entry/601097">601097</a>) in the cases reported by <a href="#24" class="mim-tip-reference" title="Killian, J. M., Kloepfer, H. W. <strong>Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy.</strong> Ann. Neurol. 5: 515-522, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/475348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">475348</a>] [<a href="https://doi.org/10.1002/ana.410050604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="475348">Killian and Kloepfer (1979)</a>, <a href="#31" class="mim-tip-reference" title="Lupski, J. R., Montes de Oca-Luna, R., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B. J., Saucedo-Cardenas, O., Barker, D. F., Killian, J. M., Garcia, C. A., Chakravarti, A., Patel, P. I. <strong>DNA duplication associated with Charcot-Marie-Tooth disease type 1A.</strong> Cell 66: 219-232, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1677316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1677316</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90613-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1677316">Lupski et al. (1991)</a>, and <a href="#21" class="mim-tip-reference" title="Kaku, D. A., Parry, G. J., Malamut, R., Lupski, J. R., Garcia, C. A. <strong>Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17.</strong> Neurology 43: 1806-1808, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8414036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8414036</a>] [<a href="https://doi.org/10.1212/wnl.43.9.1806" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8414036">Kaku et al. (1993)</a>. The heterozygous parents presented with CMT1, whereas the homozygous children were more severely affected with DSS. These findings indicated the dosage sensitivity of the MPZ and PMP22 myelin genes and also supported the hypothesis that these clinical entities, CMT1 and DSS, represent variants of the same disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8414036+8630052+8816708+1677316+475348" 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="Marrosu, M. G., Vaccargiu, S., Marrosu, G., Vannelli, A., Cianchetti, C., Muntoni, F. <strong>Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.</strong> Neurology 50: 1397-1401, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9595994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9595994</a>] [<a href="https://doi.org/10.1212/wnl.50.5.1397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9595994">Marrosu et al. (1998)</a> and <a href="#4" class="mim-tip-reference" title="Boerkoel, C. F., Takashima, H., Garcia, C. A., Olney, R. K., Johnson, J., Berry, K., Russo, P., Kennedy, S., Teebi, A. S., Scavina, M., Williams, L. L., Mancias, P., Butler, I. J., Krajewski, K., Shy, M., Lupski, J. R. <strong>Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.</strong> Ann. Neurol. 51: 190-201, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11835375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11835375</a>] [<a href="https://doi.org/10.1002/ana.10089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11835375">Boerkoel et al. (2002)</a> reported mutations in the MPZ gene (<a href="#0017">159440.0017</a> and <a href="#0020">159440.0020</a>) in patients with classic axonal CMT2 (CMT2I; <a href="/entry/607677">607677</a>). <a href="#52" class="mim-tip-reference" title="Senderek, J., Hermanns, B., Lehmann, U., Bergmann, C., Marx, G., Kabus, C., Timmerman, V., Stoltenburg-Didinger, G., Schroder, J. M. <strong>Charcot-Marie-Tooth neuropathy type 2 and PO point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible 'hotspot' on Thr124Met.</strong> Brain Path. 10: 235-248, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10764043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10764043</a>] [<a href="https://doi.org/10.1111/j.1750-3639.2000.tb00257.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10764043">Senderek et al. (2000)</a> reported 2 MPZ point mutations in 2 families with classic axonal CMT2I with late onset. <a href="#8" class="mim-tip-reference" title="De Jonghe, P., Timmerman, V., Ceuterick, C., Nelis, E., De Vriendt, E., Lofgren, A., Vercruyssen, A., Verellen, C., Van Maldergem, L., Martin, J.-J., Van Broeckhoven, C. <strong>The thr124-to-met mutation in peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.</strong> Brain 122: 281-290, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10071056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10071056</a>] [<a href="https://doi.org/10.1093/brain/122.2.281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10071056">De Jonghe et al. (1999)</a>, <a href="#6" class="mim-tip-reference" title="Chapon, F., Latour, P., Diraison, P., Schaeffer, S., Vandenberghe, A. <strong>Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.</strong> J. Neurol. Neurosurg. Psychiat. 66: 779-782, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10329755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10329755</a>] [<a href="https://doi.org/10.1136/jnnp.66.6.779" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10329755">Chapon et al. (1999)</a>, <a href="#38" class="mim-tip-reference" title="Misu, K., Yoshihara, T., Shikama, Y., Awaki, E., Yamamoto, M., Hattori, N., Hirayama, M., Takegami, T., Nakashima, K., Sobue, G. <strong>An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (thr124met or asp75val).</strong> J. Neurol. Neurosurg. Psychiat. 69: 806-811, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11080237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11080237</a>] [<a href="https://doi.org/10.1136/jnnp.69.6.806" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11080237">Misu et al. (2000)</a>, and <a href="#52" class="mim-tip-reference" title="Senderek, J., Hermanns, B., Lehmann, U., Bergmann, C., Marx, G., Kabus, C., Timmerman, V., Stoltenburg-Didinger, G., Schroder, J. M. <strong>Charcot-Marie-Tooth neuropathy type 2 and PO point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible 'hotspot' on Thr124Met.</strong> Brain Path. 10: 235-248, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10764043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10764043</a>] [<a href="https://doi.org/10.1111/j.1750-3639.2000.tb00257.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10764043">Senderek et al. (2000)</a> found that the thr124-to-met (T124M) mutation (<a href="#0016">159440.0016</a>) was associated with a distinct CMT2 axonal phenotype with pupillary anomalies and deafness (CMTJ; <a href="/entry/607736">607736</a>). <a href="#4" class="mim-tip-reference" title="Boerkoel, C. F., Takashima, H., Garcia, C. A., Olney, R. K., Johnson, J., Berry, K., Russo, P., Kennedy, S., Teebi, A. S., Scavina, M., Williams, L. L., Mancias, P., Butler, I. J., Krajewski, K., Shy, M., Lupski, J. R. <strong>Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.</strong> Ann. Neurol. 51: 190-201, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11835375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11835375</a>] [<a href="https://doi.org/10.1002/ana.10089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11835375">Boerkoel et al. (2002)</a> pointed that at least 6 mutations in the MPZ gene had been reported in patients with Charcot-Marie-Tooth disease type 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10071056+10764043+10329755+11835375+11080237+9595994" 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 affected members of a 4-generation Macedonian family with autosomal dominant hereditary motor and sensory neuropathy (HMSN) characterized by variable severity and motor nerve conduction velocities in the intermediate range (CMTDID; <a href="/entry/607791">607791</a>), <a href="#37" class="mim-tip-reference" title="Mastaglia, F. L., Nowak, K. J., Stell, R., Phillips, B. A., Edmondston, J. E., Dorosz, S. M., Wilton, S. D., Hallmayer, J., Kakulas, B. A., Laing, N. G. <strong>Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.</strong> J. Neurol. Neurosurg. Psychiat. 67: 174-179, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10406984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10406984</a>] [<a href="https://doi.org/10.1136/jnnp.67.2.174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10406984">Mastaglia et al. (1999)</a> identified a heterozygous mutation in the MPZ gene (<a href="#0018">159440.0018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10406984" 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="#41" class="mim-tip-reference" title="Nelis, E., Haites, N., Van Broeckhoven, C. <strong>Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.</strong> Hum. Mutat. 13: 11-28, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9888385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9888385</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9888385">Nelis et al. (1999)</a> tabulated 56 distinct mutations in the MPZ gene that had been identified in association with hereditary peripheral neuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9888385" 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>Among 214 Italian patients with CMT, <a href="#33" class="mim-tip-reference" title="Mandich, P., Fossa, P., Capponi, S., Geroldi, A., Acquaviva, M., Gulli, R., Ciotti, P., Manganelli, F., Grandis, M., Bellone, E. <strong>Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.</strong> Europ. J. Hum. Genet. 17: 1129-1134, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19293842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19293842</a>] [<a href="https://doi.org/10.1038/ejhg.2009.37" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19293842">Mandich et al. (2009)</a> identified mutations in the MPZ gene in 7 (7.9%) of 89 patients with demyelinating neuropathy and in 6 (4.8%) of 125 patients with axonal neuropathy. Phenotypic variability ranged from severe Dejerine-Sottas syndrome to adult-onset axonal neuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19293842" 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="#32" class="mim-tip-reference" title="Maeda, M. H., Mitsui, J., Soong, B.-W., Takahashi, Y., Ishiura, H., Hayashi, S., Shirota, Y., Ichikawa, Y., Matsumoto, H., Arai, M., Okamoto, T., Miyama, S., Shimizu, J., Inazawa, J., Goto, J., Tsuji, S. <strong>Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.</strong> Ann. Neurol. 71: 84-92, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22275255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22275255</a>] [<a href="https://doi.org/10.1002/ana.22658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22275255">Maeda et al. (2012)</a> reported a 3-generation Taiwanese family in which 6 individuals had classic autosomal dominant early-onset demyelinating CMT1B. Array comparative genomic hybridization of 13 known CMT genes identified increased dosage of MPZ that segregated with the phenotype. The 118-kb duplication included the entire MPZ gene as well as the flanking genes SDHC (<a href="/entry/602413">602413</a>) and C1ORF192; both breakpoints occurred within Alu sequences. MPZ mRNA levels were increased in patient lymphoblasts and sural nerves, and the gene dosage was estimated to be 5 copies. There was striking intrafamilial variability in the phenotype, with variation in nerve conduction velocities and age at onset. Copy number changes of the MPZ gene were not found in 192 control individuals. <a href="#32" class="mim-tip-reference" title="Maeda, M. H., Mitsui, J., Soong, B.-W., Takahashi, Y., Ishiura, H., Hayashi, S., Shirota, Y., Ichikawa, Y., Matsumoto, H., Arai, M., Okamoto, T., Miyama, S., Shimizu, J., Inazawa, J., Goto, J., Tsuji, S. <strong>Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.</strong> Ann. Neurol. 71: 84-92, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22275255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22275255</a>] [<a href="https://doi.org/10.1002/ana.22658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22275255">Maeda et al. (2012)</a> noted that mice with overexpression of the MPZ gene developed a dysmyelinating neuropathy (<a href="#66" class="mim-tip-reference" title="Wrabetz, L., Feltri, M. L., Quattrini, A., Imperiale, D., Previtali, S., D'Antonio, M., Martini, R., Yin, X., Trapp, B. D., Zhou, L., Chiu, S.-Y., Messing, A. <strong>P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves.</strong> J. Cell Biol. 148: 1021-1033, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10704451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10704451</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10704451[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/10.1083/jcb.148.5.1021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10704451">Wrabetz et al., 2000</a>). The findings indicated that overexpression of wildtype MPZ may disturb myelination during development, similar to that observed with duplication of PMP22 (<a href="/entry/601097#0001">601097.0001</a>) and PLP1 (<a href="/entry/300401#0021">300401.0021</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10704451+22275255" 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>Mutations in the MPZ gene cause distinct neurologic diseases, including CHN, DSS, and CMT1B. <a href="#19" class="mim-tip-reference" title="Inoue, K., Khajavi, M., Ohyama, T., Hirabayashi, S., Wilson, J., Reggin, J. D., Mancias, P., Butler, I. J., Wilkinson, M. F., Wegner, M., Lupski, J. R. <strong>Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.</strong> Nature Genet. 36: 361-369, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15004559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15004559</a>] [<a href="https://doi.org/10.1038/ng1322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15004559">Inoue et al. (2004)</a> presented evidence suggesting that truncating mutations in the 5-prime end of the gene result in a milder clinical phenotype than those in the 3-prime end of the gene. Northern blot analysis showed that the mutations associated with the milder phenotype are located in an internal exon and result in a decrease in mutant mRNA compared to most mutations associated with severe disease that are located in the last exon, and are not followed by an intron, which results in a larger accumulation of mutant mRNA. The decrease in mutant mRNA occurs via the nonsense-mediated decay (NMD) pathway, which typically degrades only transcripts containing nonsense mutations that are followed by at least 1 intron (<a href="#5" class="mim-tip-reference" title="Carter, M. S., Li, S., Wilkinson, M. F. <strong>A splicing-dependent regulatory mechanism that detects translation signals.</strong> EMBO J. 15: 5965-5975, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8918474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8918474</a>]" pmid="8918474">Carter et al., 1996</a>; <a href="#39" class="mim-tip-reference" title="Nagy, E., Maquat, L. E. <strong>A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance.</strong> Trends Biochem. Sci. 23: 198-199, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9644970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9644970</a>] [<a href="https://doi.org/10.1016/s0968-0004(98)01208-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9644970">Nagy and Maquat, 1998</a>). Accordingly, the mutations associated with the more severe phenotype may escape NMD and express large amounts of dominant-negative protein. Similar results were obtained for truncating mutations in the SOX10 gene (<a href="/entry/602229">602229</a>). <a href="#19" class="mim-tip-reference" title="Inoue, K., Khajavi, M., Ohyama, T., Hirabayashi, S., Wilson, J., Reggin, J. D., Mancias, P., Butler, I. J., Wilkinson, M. F., Wegner, M., Lupski, J. R. <strong>Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.</strong> Nature Genet. 36: 361-369, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15004559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15004559</a>] [<a href="https://doi.org/10.1038/ng1322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15004559">Inoue et al. (2004)</a> suggested that, in general, the NMD mechanism may function protectively to functionally convert dominant-negative effects to haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8918474+15004559+9644970" 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>Most MPZ-truncating mutations associated with severe forms of peripheral neuropathy result in premature termination codons within the terminal or penultimate exons that are not subject to nonsense-mediated decay and are stably translated into mutant proteins with potential dominant-negative activity. However, some truncating mutations at the 3-prime end of MPZ escape the nonsense-mediated decay pathway and cause a mild peripheral neuropathy phenotype. <a href="#23" class="mim-tip-reference" title="Khajavi, M., Inoue, K., Wisniewski, W., Ohyama, T., Snipes, G. J., Lupski, J. R. <strong>Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.</strong> Am. J. Hum. Genet. 77: 841-850, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16252242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16252242</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16252242[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/10.1086/497541" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16252242">Khajavi et al. (2005)</a> examined the functional properties of MPZ-truncating proteins that escaped nonsense-mediated decay, and found that frameshift mutations associated with severe disease cause an intracellular accumulation of mutant proteins, primarily within the endoplasmic reticulum (ER), which induces apoptosis. They found that curcumin, a chemical compound derived from the curry spice turmeric, releases the ER-retained MPZ mutants into the cytoplasm accompanied by a lower number of apoptotic cells. The findings suggested that curcumin treatment is sufficient to relieve the toxic effect of mutant aggregation-induced apoptosis and has the potential of a therapeutic role in treating selected forms of inherited peripheral neuropathies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16252242" 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="#66" class="mim-tip-reference" title="Wrabetz, L., Feltri, M. L., Quattrini, A., Imperiale, D., Previtali, S., D'Antonio, M., Martini, R., Yin, X., Trapp, B. D., Zhou, L., Chiu, S.-Y., Messing, A. <strong>P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves.</strong> J. Cell Biol. 148: 1021-1033, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10704451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10704451</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10704451[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/10.1083/jcb.148.5.1021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10704451">Wrabetz et al. (2000)</a> showed that normal peripheral nerve myelination depends on strict dosage of MPZ, the most abundantly expressed myelin gene. Transgenic mice containing extra copies of Mpz manifested a dose-dependent, dysmyelinating neuropathy, ranging from transient perinatal hypomyelination to arrested myelination and impaired sorting of axons by Schwann cells. Myelination was restored by breeding the transgene into the Mpz-null background, demonstrating that dysmyelination does not result from a structural alteration or Schwann cell-extrinsic effect of the transgenic P0-glycoprotein. The findings suggested that Schwann cells may be susceptible to gene dosage during nerve development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10704451" 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">rs121913583 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913583;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=rs121913583" 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=rs121913583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>Charcot-Marie-Tooth disease type 1B (CMT1B; <a href="/entry/118200">118200</a>), which is associated with greatly reduced nerve conduction velocity, was mapped to 1q21.3-q23 by family linkage studies and by deletion mapping. Mapping of the MPZ gene to the same region suggested that it might be the site of the causative mutations. <a href="#13" class="mim-tip-reference" title="Hayasaka, K., Himoro, M., Sato, W., Takada, G., Uyemura, K., Shimizu, N., Bird, T. D., Conneally, P. M., Chance, P. F. <strong>Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P(0) gene.</strong> Nature Genet. 5: 31-34, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7693129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7693129</a>] [<a href="https://doi.org/10.1038/ng0993-31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7693129">Hayasaka et al. (1993)</a> proved this to be the case by the demonstration of separate mutations in 2 families with CMT1B: a lys96-to-glu mutation and an asp90-to-glu mutation (<a href="#0002">159440.0002</a>). Both were located in the extracellular domain, which plays a significant role in myelin membrane adhesion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7693129" 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="Su, Y., Brooks, D. G., Li, L., Lepercq, J., Trofatter, J. A., Ravetch, J. V., Lebo, R. V. <strong>Myelin protein zero gene mutated in Charcot-Marie-Tooth type 1B patients.</strong> Proc. Nat. Acad. Sci. 90: 10856-10860, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504284</a>] [<a href="https://doi.org/10.1073/pnas.90.22.10856" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7504284">Su et al. (1993)</a> found the lys96-to-glu mutation in all of 18 affected members of the largest known Duffy-linked CMT1B family. The mutation occurred in a region of the MPZ protein conserved identically in human, rat, and cow since these species diverged. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504284" 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="#60" class="mim-tip-reference" title="Thomas, F. P., Lebo, R. V., Rosoklija, G., Ding, X.-S., Lovelace, R. E., Latov, N., Hays, A. P. <strong>Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome.</strong> Acta Neuropath. 87: 91-97, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7511317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7511317</a>] [<a href="https://doi.org/10.1007/BF00386259" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7511317">Thomas et al. (1994)</a> demonstrated by sural nerve biopsies from a father and son in this family that the changes were typical of tomaculous neuropathy with loss of myelinated fibers and frequent small onion bulbs. The resemblance of tomacula to myelin folding and loops during early development may reflect immature or abnormal axon-myelin interaction. Tomaculous neuropathy is characteristic particularly of hereditary neuropathy with liability to pressure palsies (<a href="/entry/162500">162500</a>), which has been shown to result from deletion of the gene for peripheral myelin protein-22; PMP22 is duplicated or the site of point mutations in Charcot-Marie-Tooth disease type 1A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7511317" 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>.0002 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</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> rs121913584 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913584;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/rs121913584?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=rs121913584" 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=rs121913584" 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=RCV000015230 OR RCV000704216 OR RCV000789441" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015230, RCV000704216, RCV000789441" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015230...</a>
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<p>In affected members of a family segregating Charcot-Marie-Tooth disease type 1B (CMT1B; <a href="/entry/118200">118200</a>), <a href="#13" class="mim-tip-reference" title="Hayasaka, K., Himoro, M., Sato, W., Takada, G., Uyemura, K., Shimizu, N., Bird, T. D., Conneally, P. M., Chance, P. F. <strong>Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P(0) gene.</strong> Nature Genet. 5: 31-34, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7693129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7693129</a>] [<a href="https://doi.org/10.1038/ng0993-31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7693129">Hayasaka et al. (1993)</a> identified an asp90-to-glu mutation in the MPZ gene. The mutation was located in the extracellular domain, which plays a significant role in myelin membrane adhesion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7693129" 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>.0003 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</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">rs879254109 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879254109;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=rs879254109" 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=rs879254109" 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=RCV000015231 OR RCV000235309 OR RCV000535237 OR RCV000790083" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015231, RCV000235309, RCV000535237, RCV000790083" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015231...</a>
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<p><a href="#26" class="mim-tip-reference" title="Kulkens, T., Bolhuis, P. A., Wolterman, R. A., Kemp, S., te Nijenhuis, S., Valentijn, L. J., Hensels, G. W., Jennekens, F. G. I., de Visser, M., Hoogendijk, J. E., Baas, F. <strong>Deletion of the serine 34 codon from the major peripheral myelin protein P(0) gene in Charcot-Marie-Tooth disease type 1B.</strong> Nature Genet. 5: 35-39, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7693130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7693130</a>] [<a href="https://doi.org/10.1038/ng0993-35" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7693130">Kulkens et al. (1993)</a> showed that all affected members of a family with type 1B Charcot-Marie-Tooth disease (CMT1B; <a href="/entry/118200">118200</a>) had a 3-bp deletion in exon 2 causing loss of the serine-34 codon. This residue is located in the extracellular domain of P0. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7693130" 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>.0004 DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT</strong>
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MPZ, SER63CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913585 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913585;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=rs121913585" 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=rs121913585" 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=RCV000015232 OR RCV000390750 OR RCV000789439 OR RCV000803240" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015232, RCV000390750, RCV000789439, RCV000803240" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015232...</a>
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<p><a href="#14" class="mim-tip-reference" title="Hayasaka, K., Himoro, M., Sawaishi, Y., Nanao, K., Takahashi, T., Takada, G., Nicholson, G. A., Ouvrier, R. A., Tachi, N. <strong>De novo mutation of the myelin P(0) gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).</strong> Nature Genet. 5: 266-268, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7506095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7506095</a>] [<a href="https://doi.org/10.1038/ng1193-266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7506095">Hayasaka et al. (1993)</a> found a mutation of the MPZ gene in a 7-year-old boy with delayed motor development, hypotonia, muscle weakness, and sensory disturbance thought to be typical of Dejerine-Sottas syndrome (<a href="/entry/145900">145900</a>), or hereditary motor and sensory neuropathy type III (HMSN3). The patient was case 1 of <a href="#59" class="mim-tip-reference" title="Tachi, N., Ishikawa, Y., Minami, R. <strong>Two cases of congenital hypomyelination neuropathy.</strong> Brain Dev. 6: 560-565, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6099985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6099985</a>] [<a href="https://doi.org/10.1016/s0387-7604(84)80101-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6099985">Tachi et al. (1984)</a>. Cysteine was substituted for serine-63 in the extracellular domain. The patient was heterozygous for the mutation, which was absent in the parents and in 100 unrelated healthy controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6099985+7506095" 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>.0005 DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT</strong>
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MPZ, GLY167ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913586 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913586;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=rs121913586" 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=rs121913586" 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=RCV000015233 OR RCV000032123 OR RCV000198029 OR RCV001851867" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015233, RCV000032123, RCV000198029, RCV001851867" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015233...</a>
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<p><a href="#14" class="mim-tip-reference" title="Hayasaka, K., Himoro, M., Sawaishi, Y., Nanao, K., Takahashi, T., Takada, G., Nicholson, G. A., Ouvrier, R. A., Tachi, N. <strong>De novo mutation of the myelin P(0) gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).</strong> Nature Genet. 5: 266-268, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7506095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7506095</a>] [<a href="https://doi.org/10.1038/ng1193-266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7506095">Hayasaka et al. (1993)</a> identified a gly167-to-arg mutation in the transmembrane domain of MPZ in case 20 of <a href="#43" class="mim-tip-reference" title="Ouvrier, R. A., McLeod, J. G., Conchin, T. E. <strong>The hypertrophic forms of hereditary motor and sensory neuropathy: a study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood.</strong> Brain 110: 121-148, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3467805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3467805</a>] [<a href="https://doi.org/10.1093/brain/110.1.121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3467805">Ouvrier et al. (1987)</a>; the patient was thought to have typical Dejerine-Sottas syndrome (<a href="/entry/145900">145900</a>) except that his spinal fluid protein level was not elevated. The patient was heterozygous for the mutation, which was absent in the parents and in 100 unrelated healthy controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7506095+3467805" 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>.0006 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</strong>
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MPZ, THR216GLU-ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2102257349 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2102257349;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=rs2102257349" 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=rs2102257349" 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=RCV000015234" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015234" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015234</a>
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<p>In all of 3 tested affected patients in a family with Charcot-Marie-Tooth disease type 1B (CMT1B; <a href="/entry/118200">118200</a>), <a href="#56" class="mim-tip-reference" title="Su, Y., Brooks, D. G., Li, L., Lepercq, J., Trofatter, J. A., Ravetch, J. V., Lebo, R. V. <strong>Myelin protein zero gene mutated in Charcot-Marie-Tooth type 1B patients.</strong> Proc. Nat. Acad. Sci. 90: 10856-10860, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504284</a>] [<a href="https://doi.org/10.1073/pnas.90.22.10856" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7504284">Su et al. (1993)</a> found 5 nucleotide substitutions in the MPZ gene. These mutations disrupted the splice site between intron 5 and exon 6 and may have created a new splice site 3 bases earlier. The new putative splice site would replace a neutral threonine with a positively charged arginine and a negatively charged glutamic acid. This major charge change would be expected to interfere with serine phosphorylation 6 amino acids upstream. This mutant 9-bp sequence is identical to a mouse intron 1 sequence. Thus, a recombination between the homologous human MPZ intron 1 and the MPZ intron 5 splice acceptor site could have generated this CMT1B allele. The mutation was referred to as T216ER. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504284" 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>.0007 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</strong>
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MPZ, ILE135THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913587 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913587;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=rs121913587" 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=rs121913587" 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=RCV000015235 OR RCV000425572 OR RCV001807729 OR RCV005089261" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015235, RCV000425572, RCV001807729, RCV005089261" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015235...</a>
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<p><a href="#46" class="mim-tip-reference" title="Roa, B. B., Warner, L. E., Garcia, C. A., Russo, D., Lovelace, R., Chance, P. F., Lupski, J. R. <strong>Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.</strong> Hum. Mutat. 7: 36-45, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8664899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8664899</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<36::AID-HUMU5>3.0.CO;2-N" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8664899">Roa et al. (1996)</a> identified an ile135-to-thr mutation in a Charcot-Marie-Tooth disease type 1B (CMT1B; <a href="/entry/118200">118200</a>) family of Spanish descent with at least 3 generations of affected family members and male-to-male transmission. The proband was diagnosed with CMT disease at 22 years of age. Episodes of cramps in the legs and arms were subsequently documented. Neuroconduction studies showed no response on stimulation of sensory nerves and severely reduced motor neuron conduction velocities were observed. The patient had been wheelchair-bound since age 37 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8664899" 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="0008" class="mim-anchor"></a>
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<strong>.0008 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</strong>
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MPZ, GLY137SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913588 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913588;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=rs121913588" 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=rs121913588" 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=RCV000015236 OR RCV000462311 OR RCV000712317" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015236, RCV000462311, RCV000712317" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015236...</a>
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<p><a href="#46" class="mim-tip-reference" title="Roa, B. B., Warner, L. E., Garcia, C. A., Russo, D., Lovelace, R., Chance, P. F., Lupski, J. R. <strong>Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.</strong> Hum. Mutat. 7: 36-45, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8664899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8664899</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<36::AID-HUMU5>3.0.CO;2-N" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8664899">Roa et al. (1996)</a> identified a gly137-to-ser mutation in a father and daughter with Charcot-Marie-Tooth disease type 1B (CMT1B; <a href="/entry/118200">118200</a>). The grandparents were unaffected. The father had not walked until age 2 years. At the age of 12 he showed a slapping gait, severe atrophy of leg muscles, pes cavus, and hammertoes. He also had weakness and wasting of intrinsic hand muscles and absent stretch reflexes in all 4 limbs. There were no visibly enlarged or palpable peripheral nerves. Sensory nerve conduction studies on the left sural nerve elicited no response upon stimulation. The patient's 4-year-old daughter walked at 21 months of age, had flat feet, walked on her toes, and had muscle weakness. Neurologic examination showed absence of stretch reflexes and no enlargement of peripheral nerves. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8664899" 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="0009" class="mim-anchor"></a>
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<strong>.0009 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</strong>
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MPZ, ARG98PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913589 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913589;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=rs121913589" 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=rs121913589" 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=RCV000015237 OR RCV000638160 OR RCV000790115 OR RCV001811142 OR RCV002433456" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015237, RCV000638160, RCV000790115, RCV001811142, RCV002433456" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015237...</a>
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<p>Among 20 unrelated French Charcot-Marie-Tooth disease type 1B (CMT1B; <a href="/entry/118200">118200</a>) patients without 17p11.2 duplications, <a href="#47" class="mim-tip-reference" title="Rouger, H., LeGuern, E., Gouider, R., Tardieu, S., Birouk, N., Gugenheim, M., Bouche, P., Agid, Y., Brice, A. <strong>High frequency of mutations in codon 98 of the peripheral myelin protein Po gene in 20 French CMT1 patients. (Letter)</strong> Am. J. Hum. Genet. 58: 638-641, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644725</a>]" pmid="8644725">Rouger et al. (1996)</a> found 3 different mutations at codon 98. No other mutation in exon 3 of the MPZ gene was detected. The mutation was demonstrated to be de novo in 1 of the cases and suspected of being de novo in the other 2, suggesting that mutations occur with a high rate at codon 98. In 1 patient an arg98-to-pro (R98P) mutation was caused by a 293G-C transversion, whereas in another patient an arg98-to-cys substitution (R98C; <a href="#0010">159440.0010</a>) was caused by a 292C-T transition. The third mutation was a 293G-A transition, resulting in an arg98-to-his substitution (R98H; <a href="#0011">159440.0011</a>). <a href="#47" class="mim-tip-reference" title="Rouger, H., LeGuern, E., Gouider, R., Tardieu, S., Birouk, N., Gugenheim, M., Bouche, P., Agid, Y., Brice, A. <strong>High frequency of mutations in codon 98 of the peripheral myelin protein Po gene in 20 French CMT1 patients. (Letter)</strong> Am. J. Hum. Genet. 58: 638-641, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644725</a>]" pmid="8644725">Rouger et al. (1996)</a> noted that this mutation had previously been reported in a Japanese family by <a href="#17" class="mim-tip-reference" title="Hayasaka, K., Ohnishi, A., Takada, G., Fukushima, Y., Murai, Y. <strong>Mutation of the myeline (sic) P0 gene in the Charcot-Marie-Tooth neuropathy type 1.</strong> Biochem. Biophys. Res. Commun. 194: 1317-1322, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7688964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7688964</a>] [<a href="https://doi.org/10.1006/bbrc.1993.1968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7688964">Hayasaka et al. (1993)</a>. The patient with the R98C mutation showed a more severe clinical and electrophysiologic phenotype than the others with a codon 98 mutation, partly compatible with Dejerine-Sottas syndrome with very early onset (1 year), and a very low nerve conduction velocity, but only mild functional disability at age 8 years. All 3 mutations in codon 98 implied a C-to-T transition (1 on the sense and 2 on the antisense strand), suggesting that they may result from the deamination of a methylcytosine to a thymine. The authors stated that this could explain the high rate of mutations on codon 98. The R98H mutation, characterized by direct sequencing in 2 cases, was not detected by the SSCP technique. Since SSCP analysis was used as the initial screening technique in most previous studies, the frequency of mutations at codon 98 may have been underestimated. The 3 codon 98 mutations represented 20% of the CMT1 patients without duplications and probably a much higher proportion of those with MPZ mutations. These mutations can be picked up by CfoI restriction of exon 3 of the MPZ gene; this approach should be the first step in screening CMT1 patients without duplications. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8644725+7688964" 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>.0010 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</strong>
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MPZ, ARG98CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913590 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913590;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=rs121913590" 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=rs121913590" 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=RCV000015238 OR RCV000237048 OR RCV000548074" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015238, RCV000237048, RCV000548074" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015238...</a>
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<p>Among 20 unrelated French Charcot-Marie-Tooth disease type 1B (CMT1B; <a href="/entry/118200">118200</a>) patients without 17p11.2 duplications, <a href="#47" class="mim-tip-reference" title="Rouger, H., LeGuern, E., Gouider, R., Tardieu, S., Birouk, N., Gugenheim, M., Bouche, P., Agid, Y., Brice, A. <strong>High frequency of mutations in codon 98 of the peripheral myelin protein Po gene in 20 French CMT1 patients. (Letter)</strong> Am. J. Hum. Genet. 58: 638-641, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644725</a>]" pmid="8644725">Rouger et al. (1996)</a> found 3 different mutations at codon 98. No other mutation in exon 3 of the MPZ gene was detected. The mutation was demonstrated to be de novo in 1 of the cases and suspected of being de novo in the other 2, suggesting that mutations occur with a high rate at codon 98. In 1 patient an arg98-to-pro (R98P; <a href="#0009">159440.0009</a>) mutation was caused by a 293G-C transversion, whereas in another patient an arg98-to-cys substitution (R98C) was caused by a 292C-T transition. The third mutation was a 293G-A transition, resulting in an arg98-to-his substitution (R98H; <a href="#0011">159440.0011</a>). <a href="#47" class="mim-tip-reference" title="Rouger, H., LeGuern, E., Gouider, R., Tardieu, S., Birouk, N., Gugenheim, M., Bouche, P., Agid, Y., Brice, A. <strong>High frequency of mutations in codon 98 of the peripheral myelin protein Po gene in 20 French CMT1 patients. (Letter)</strong> Am. J. Hum. Genet. 58: 638-641, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644725</a>]" pmid="8644725">Rouger et al. (1996)</a> noted that this mutation had previously been reported in a Japanese family by <a href="#17" class="mim-tip-reference" title="Hayasaka, K., Ohnishi, A., Takada, G., Fukushima, Y., Murai, Y. <strong>Mutation of the myeline (sic) P0 gene in the Charcot-Marie-Tooth neuropathy type 1.</strong> Biochem. Biophys. Res. Commun. 194: 1317-1322, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7688964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7688964</a>] [<a href="https://doi.org/10.1006/bbrc.1993.1968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7688964">Hayasaka et al. (1993)</a>. The patient with the R98C mutation showed a more severe clinical and electrophysiologic phenotype than the others with a codon 98 mutation, partly compatible with Dejerine-Sottas syndrome with very early onset (1 year), and a very low nerve conduction velocity, but only mild functional disability at age 8 years. All 3 mutations in codon 98 implied a C-to-T transition (1 on the sense and 2 on the antisense strand), suggesting that they may result from the deamination of a methylcytosine to a thymine. The authors stated that this could explain the high rate of mutations on codon 98. The R98H mutation, characterized by direct sequencing in 2 cases, was not detected by the SSCP technique. Since SSCP analysis was used as the initial screening technique in most previous studies, the frequency of mutations at codon 98 may have been underestimated. The 3 codon 98 mutations represented 20% of the CMT1 patients without duplications and probably a much higher proportion of those with MPZ mutations. These mutations can be picked up by CfoI restriction of exon 3 of the MPZ gene; this approach should be the first step in screening CMT1 patients without duplications. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8644725+7688964" 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>.0011 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</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">rs121913589 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913589;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=rs121913589" 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=rs121913589" 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=RCV000015239 OR RCV000196172 OR RCV000376287 OR RCV000415463 OR RCV001173692 OR RCV002433457 OR RCV004528112" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015239, RCV000196172, RCV000376287, RCV000415463, RCV001173692, RCV002433457, RCV004528112" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015239...</a>
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<p>Among 20 unrelated French Charcot-Marie-Tooth disease type 1B (CMT1B; <a href="/entry/118200">118200</a>) patients without 17p11.2 duplications, <a href="#47" class="mim-tip-reference" title="Rouger, H., LeGuern, E., Gouider, R., Tardieu, S., Birouk, N., Gugenheim, M., Bouche, P., Agid, Y., Brice, A. <strong>High frequency of mutations in codon 98 of the peripheral myelin protein Po gene in 20 French CMT1 patients. (Letter)</strong> Am. J. Hum. Genet. 58: 638-641, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644725</a>]" pmid="8644725">Rouger et al. (1996)</a> found 3 different mutations at codon 98. No other mutation in exon 3 of the MPZ gene was detected. The mutation was demonstrated to be de novo in 1 of the cases and suspected of being de novo in the other 2, suggesting that mutations occur with a high rate at codon 98. In 1 patient an arg98-to-pro (R98P; <a href="#0009">159440.0009</a>) mutation was caused by a 293G-C transversion, whereas in another patient an arg98-to-cys substitution (R98C; <a href="#0010">159440.0010</a>) was caused by a 292C-T transition. The third mutation was a 293G-A transition, resulting in an arg98-to-his substitution. <a href="#47" class="mim-tip-reference" title="Rouger, H., LeGuern, E., Gouider, R., Tardieu, S., Birouk, N., Gugenheim, M., Bouche, P., Agid, Y., Brice, A. <strong>High frequency of mutations in codon 98 of the peripheral myelin protein Po gene in 20 French CMT1 patients. (Letter)</strong> Am. J. Hum. Genet. 58: 638-641, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644725</a>]" pmid="8644725">Rouger et al. (1996)</a> noted that this mutation had previously been reported in a Japanese family by <a href="#17" class="mim-tip-reference" title="Hayasaka, K., Ohnishi, A., Takada, G., Fukushima, Y., Murai, Y. <strong>Mutation of the myeline (sic) P0 gene in the Charcot-Marie-Tooth neuropathy type 1.</strong> Biochem. Biophys. Res. Commun. 194: 1317-1322, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7688964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7688964</a>] [<a href="https://doi.org/10.1006/bbrc.1993.1968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7688964">Hayasaka et al. (1993)</a>. The patient with the R98C mutation showed a more severe clinical and electrophysiologic phenotype than the others with a codon 98 mutation, partly compatible with Dejerine-Sottas syndrome with very early onset (1 year), and a very low nerve conduction velocity, but only mild functional disability at age 8 years. All 3 mutations in codon 98 implied a C-to-T transition (1 on the sense and 2 on the antisense strand), suggesting that they may result from the deamination of a methylcytosine to a thymine. The authors stated that this could explain the high rate of mutations on codon 98. The R98H mutation, characterized by direct sequencing in 2 cases, was not detected by the SSCP technique. Since SSCP analysis was used as the initial screening technique in most previous studies, the frequency of mutations at codon 98 may have been underestimated. The 3 codon 98 mutations represented 20% of the CMT1 patients without duplications and probably a much higher proportion of those with MPZ mutations. These mutations can be picked up by CfoI restriction of exon 3 of the MPZ gene; this approach should be the first step in screening CMT1 patients without duplications. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8644725+7688964" 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="Watanabe, M., Yamamoto, N., Ohkoshi, N., Nagata, H., Kohno, Y., Hayashi, A., Tamaoka, A., Shoji, S. <strong>Corticosteroid-responsive asymmetric neuropathy with a myelin protein zero gene mutation.</strong> Neurology 59: 767-769, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12221176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12221176</a>] [<a href="https://doi.org/10.1212/wnl.59.5.767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12221176">Watanabe et al. (2002)</a> reported partial symptom relief with corticosteroid treatment in a patient with demyelinating CMT1B and a heterozygous R98H mutation in the MPZ gene. Although this response is rare in such patients, <a href="#65" class="mim-tip-reference" title="Watanabe, M., Yamamoto, N., Ohkoshi, N., Nagata, H., Kohno, Y., Hayashi, A., Tamaoka, A., Shoji, S. <strong>Corticosteroid-responsive asymmetric neuropathy with a myelin protein zero gene mutation.</strong> Neurology 59: 767-769, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12221176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12221176</a>] [<a href="https://doi.org/10.1212/wnl.59.5.767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12221176">Watanabe et al. (2002)</a> hypothesized that poor myelin compaction by the MPZ protein, caused by the mutation, may have allowed circulating immune elements access to normally sequestered endoneurial components, thus accounting for the response to corticosteroid treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12221176" 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>.0012 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</strong>
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MPZ, SER63PHE
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913585 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913585;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=rs121913585" 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=rs121913585" 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=RCV000015240 OR RCV001173697 OR RCV001224917" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015240, RCV001173697, RCV001224917" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015240...</a>
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<p>In a 54-year-old mother and her 22-year-old daughter, <a href="#3" class="mim-tip-reference" title="Blanquet-Grossard, F., Pham-Dinh, D., Dautigny, A., Latour, P., Bonnebouche, C., Corbillon, E., Chazot, G., Vandenberghe, A. <strong>Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein P0 gene.</strong> Clin. Genet. 48: 281-283, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8835320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8835320</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04109.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8835320">Blanquet-Grossard et al. (1995)</a> found that type 1B Charcot-Marie-Tooth disease (CMT1B; <a href="/entry/118200">118200</a>) was associated with a ser63-to-phe mutation. This was the third mutation to be described at this codon; a ser63-to-del mutation (<a href="#0003">159440.0003</a>) led to CMT1B. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8835320" 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 NEUROPATHY, CONGENITAL HYPOMYELINATING, 2</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">rs121913593 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913593;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=rs121913593" 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=rs121913593" 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=RCV000015241" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015241" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015241</a>
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<p>In a patient (patient 987) with congenital hypomyelination-2 (CHN2; <a href="/entry/618184">618184</a>), <a href="#63" class="mim-tip-reference" title="Warner, L. E., Hilz, M. J., Appel, S. H., Killian, J. M., Kolodny, E. H., Karpati, G., Carpenter, S., Watters, G. V., Wheeler, C., Witt, D., Bodell, A., Nelis, E., Van Broeckhoven, C., Lupski, J. R. <strong>Clinical phenotypes of different MPZ(P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.</strong> Neuron 17: 451-460, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8816708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8816708</a>] [<a href="https://doi.org/10.1016/s0896-6273(00)80177-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8816708">Warner et al. (1996)</a> identified a de novo heterozygous 643C-T transition in exon 5 of the MPZ gene, resulting in a gln186-to-ter (GLN186TER; Q186X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8816708" 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="#34" class="mim-tip-reference" title="Mandich, P., Mancardi, G. L., Varese, A., Soriani, S., Di Maria, E., Bellone, E., Bado, M., Gross, L., Windebank, A. J., Ajmar, F., Schenone, A. <strong>Congenital hypomyelination due to myelin protein zero Q215X mutation.</strong> Ann. Neurol. 45: 676-678, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10319895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10319895</a>] [<a href="https://doi.org/10.1002/1531-8249(199905)45:5<676::aid-ana21>3.0.co;2-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10319895">Mandich et al. (1999)</a> identified the same de novo heterozygous nonsense mutation, referred to as a c.643C-T transition resulting in a gln215-to-ter (Q215X) substitution, in an unrelated patient with CHN2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10319895" 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>.0014 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</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">rs121913594 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913594;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=rs121913594" 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=rs121913594" 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=RCV000015242 OR RCV000518134 OR RCV000789479 OR RCV001385507 OR RCV004795414" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015242, RCV000518134, RCV000789479, RCV001385507, RCV004795414" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015242...</a>
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<p>In a family in South Wales in which 13 members were affected by Charcot-Marie-Tooth disease type 1B (CMT1B; <a href="/entry/118200">118200</a>), <a href="#55" class="mim-tip-reference" title="Sorour, E., MacMillan, J., Upadhyaya, M. <strong>Novel mutation of the myelin P0 gene in a CMT1B family.</strong> Hum. Mutat. 9: 74-77, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8990016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8990016</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<74::AID-HUMU16>3.0.CO;2-M" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8990016">Sorour et al. (1997)</a> found a 242A-G transition in exon 3 of the MPZ gene, resulting in a his81-to-arg substitution. The family was unusual in that several members had severe distal lower limb weakness and foot deformities from early childhood, including 3 born with clubfoot. One had undergone bilateral below-knee amputations for severe foot deformities. All affected individuals had distal muscle weakness and wasting of upper and lower limbs, tendon stretch hypo/areflexia, and distal sensory impairment. The median nerve motor conduction velocity of affected family members was 11.1 m/s and median sensory nerve action potentials (SNAPs) were consistently absent. The disorder in this family was significantly more severe than in other families with HMSN type I in this study. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8990016" 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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MPZ, ILE85THR, ASN87HIS, ASP99ASN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267607241 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607241;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=rs267607241" 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=rs267607241" 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">rs267607242 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607242;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=rs267607242" 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=rs267607242" 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">rs267607243 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607243;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=rs267607243" 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=rs267607243" 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=RCV000015243 OR RCV000541724 OR RCV000789491 OR RCV000789492 OR RCV000790098 OR RCV000813380 OR RCV001508018" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015243, RCV000541724, RCV000789491, RCV000789492, RCV000790098, RCV000813380, RCV001508018" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015243...</a>
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<p>In a sporadic case of Dejerine-Sottas syndrome (DSS; <a href="/entry/145900">145900</a>), <a href="#64" class="mim-tip-reference" title="Warner, L. E., Shohat, M., Shorer, Z., Lupski, J. R. <strong>Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.</strong> Hum. Mutat. 10: 21-24, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9222756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9222756</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:1<21::AID-HUMU3>3.0.CO;2-P" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9222756">Warner et al. (1997)</a> identified 3 de novo point mutations in exon 3 of the MPZ gene. The point mutations occurred on the same allele and resulted in 3 amino acid substitutions: ile85 to thr, asn87 to his, and asp99 to asn. They were all novel mutations; therefore, it was difficult to predict what the phenotype of these mutations would be individually. The mechanism by which they produced a severe phenotype was also unclear. None of the mutations occurred at a CpG dinucleotide and there were no known similar sequences to participate in a gene conversion event. The spacing between the mutations (5 bp and 36 bp) suggested the occurrence of sequence alterations on different faces of the double helix, which may be less likely to result from a single contact by an interacting exogenous chemical mutagen. The patient was the offspring of a 36-year-old mother and a 46-year-old father. He was noted at 9 weeks of age to have moderate to severe hypotonia and weak tendon reflexes. At 2 years, he showed delay in motor development. He sat without support and could stand with assistance, but could not walk. He appeared to be advanced in mental development. Motor nerve conduction velocities at 1 year of age were markedly delayed with significantly low amplitude. There was no response from the medial plantar and sural nerves on sensory nerve conduction tests. Nerve biopsy showed variation in fiber size with reduced number of axons, hypomyelination, and sporadic onion bulb formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9222756" 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>.0016 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J</strong>
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CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, INCLUDED
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913595 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913595;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=rs121913595" 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=rs121913595" 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=RCV000015244 OR RCV000015245 OR RCV000192248 OR RCV000517355 OR RCV000638155 OR RCV000763262 OR RCV001262744 OR RCV002245981 OR RCV002345245" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015244, RCV000015245, RCV000192248, RCV000517355, RCV000638155, RCV000763262, RCV001262744, RCV002245981, RCV002345245" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015244...</a>
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<p>In a man with Charcot-Marie-Tooth disease type 1B (CMT1B; <a href="/entry/118200">118200</a>), <a href="#50" class="mim-tip-reference" title="Schiavon, F., Rampazzo, A., Merlini, L., Angelini, C., Mostacciuolo, M. L. <strong>Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.</strong> Hum. Mutat. Suppl. 1: S217-S219, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9452091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9452091</a>] [<a href="https://doi.org/10.1002/humu.1380110170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9452091">Schiavon et al. (1998)</a> identified a 371C-T transition in exon 3 of the MPZ gene, resulting in a thr124-to-met (T124M) substitution. The patient had a relatively mild clinical course, with onset of generalized asthenia at age 42 years and a slightly decreased motor NCV of 37 m/s. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9452091" 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 7 Charcot-Marie-Tooth families and in 2 isolated CMT patients of Belgian ancestry, <a href="#8" class="mim-tip-reference" title="De Jonghe, P., Timmerman, V., Ceuterick, C., Nelis, E., De Vriendt, E., Lofgren, A., Vercruyssen, A., Verellen, C., Van Maldergem, L., Martin, J.-J., Van Broeckhoven, C. <strong>The thr124-to-met mutation in peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.</strong> Brain 122: 281-290, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10071056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10071056</a>] [<a href="https://doi.org/10.1093/brain/122.2.281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10071056">De Jonghe et al. (1999)</a> found the T124M mutation. Allele-sharing analysis of markers flanking the MPZ gene indicated that all patients with the T124M mutation had 1 common ancestor. The mutation was associated with a clinically distinct phenotype characterized by axonal involvement, late onset, marked sensory abnormalities, and, in some families, deafness and pupillary abnormalities (CMT2J; <a href="/entry/607736">607736</a>). Nerve conduction velocities of the motor median nerve varied from less than 38 m/s to normal values in these patients. Clusters of remyelinating axons in the sural nerve biopsy demonstrated an axonal involvement, with axonal regeneration. Phenotype/genotype correlations in 30 patients with the mutation indicated that, based on nerve conduction velocity criteria, these patients were difficult to classify as CMT1 or CMT2. <a href="#8" class="mim-tip-reference" title="De Jonghe, P., Timmerman, V., Ceuterick, C., Nelis, E., De Vriendt, E., Lofgren, A., Vercruyssen, A., Verellen, C., Van Maldergem, L., Martin, J.-J., Van Broeckhoven, C. <strong>The thr124-to-met mutation in peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.</strong> Brain 122: 281-290, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10071056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10071056</a>] [<a href="https://doi.org/10.1093/brain/122.2.281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10071056">De Jonghe et al. (1999)</a> concluded that CMT patients with slightly reduced or nearly normal nerve conduction velocity should be screened for MPZ mutations, particularly when additional clinical features such as marked sensory disturbances, pupillary abnormalities, or deafness are also present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10071056" 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="#6" class="mim-tip-reference" title="Chapon, F., Latour, P., Diraison, P., Schaeffer, S., Vandenberghe, A. <strong>Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.</strong> J. Neurol. Neurosurg. Psychiat. 66: 779-782, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10329755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10329755</a>] [<a href="https://doi.org/10.1136/jnnp.66.6.779" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10329755">Chapon et al. (1999)</a> and <a href="#38" class="mim-tip-reference" title="Misu, K., Yoshihara, T., Shikama, Y., Awaki, E., Yamamoto, M., Hattori, N., Hirayama, M., Takegami, T., Nakashima, K., Sobue, G. <strong>An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (thr124met or asp75val).</strong> J. Neurol. Neurosurg. Psychiat. 69: 806-811, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11080237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11080237</a>] [<a href="https://doi.org/10.1136/jnnp.69.6.806" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11080237">Misu et al. (2000)</a> likewise found a distinct CMT type 2 axonal phenotype with pupillary anomalies, deafness, and sensory abnormalities associated with the T124M mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11080237+10329755" 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="Senderek, J., Hermanns, B., Lehmann, U., Bergmann, C., Marx, G., Kabus, C., Timmerman, V., Stoltenburg-Didinger, G., Schroder, J. M. <strong>Charcot-Marie-Tooth neuropathy type 2 and PO point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible 'hotspot' on Thr124Met.</strong> Brain Path. 10: 235-248, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10764043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10764043</a>] [<a href="https://doi.org/10.1111/j.1750-3639.2000.tb00257.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10764043">Senderek et al. (2000)</a> suggested that T124M reflects a mutation hotspot. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10764043" 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="#2" class="mim-tip-reference" title="Baloh, R. H., Jen, J. C., Kim, G., Baloh, R. W. <strong>Chronic cough due to thr124met mutation in the peripheral myelin protein zero (MPZ gene).</strong> Neurology 62: 1905-1906, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15159512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15159512</a>] [<a href="https://doi.org/10.1212/01.wnl.0000125287.98456.23" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15159512">Baloh et al. (2004)</a> reported a family in which multiple members spanning 3 generations had severe chronic recurring coughing spasms, beginning in their teens and lasting for 20 to 30 minutes and ending in retching or vomiting. All affected members had tonic pupils and most developed late-onset axonal peripheral neuropathy. The features resembled CMT with hearing loss and pupillary abnormalities reported by <a href="#8" class="mim-tip-reference" title="De Jonghe, P., Timmerman, V., Ceuterick, C., Nelis, E., De Vriendt, E., Lofgren, A., Vercruyssen, A., Verellen, C., Van Maldergem, L., Martin, J.-J., Van Broeckhoven, C. <strong>The thr124-to-met mutation in peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.</strong> Brain 122: 281-290, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10071056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10071056</a>] [<a href="https://doi.org/10.1093/brain/122.2.281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10071056">De Jonghe et al. (1999)</a> and <a href="#38" class="mim-tip-reference" title="Misu, K., Yoshihara, T., Shikama, Y., Awaki, E., Yamamoto, M., Hattori, N., Hirayama, M., Takegami, T., Nakashima, K., Sobue, G. <strong>An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (thr124met or asp75val).</strong> J. Neurol. Neurosurg. Psychiat. 69: 806-811, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11080237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11080237</a>] [<a href="https://doi.org/10.1136/jnnp.69.6.806" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11080237">Misu et al. (2000)</a>, but hearing loss was not a feature in this family. The proband also reported gastrointestinal symptoms diagnosed as irritable bowel syndrome, occasional urinary incontinence, and erectile dysfunction. The proband and his affected sister and mother were heterozygous for the T124M mutation; 4 unaffected family members tested did not have the mutation. <a href="#2" class="mim-tip-reference" title="Baloh, R. H., Jen, J. C., Kim, G., Baloh, R. W. <strong>Chronic cough due to thr124met mutation in the peripheral myelin protein zero (MPZ gene).</strong> Neurology 62: 1905-1906, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15159512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15159512</a>] [<a href="https://doi.org/10.1212/01.wnl.0000125287.98456.23" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15159512">Baloh et al. (2004)</a> concluded that the T124M mutation results in dysfunction of the autonomic nervous system. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11080237+15159512+10071056" 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="Triggs, W. J., Brown, R. H., Jr., Menkes, D. L. <strong>Case 18-2006: a 57-year-old woman with numbness and weakness of the feet and legs.</strong> New Eng. J. Med. 354: 2584-2592, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16775239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16775239</a>] [<a href="https://doi.org/10.1056/NEJMcpc069009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16775239">Triggs et al. (2006)</a> described a family with the characteristic features of CMT2J and the T124M mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16775239" 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> rs267607244 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607244;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/rs267607244?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=rs267607244" 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=rs267607244" 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">rs267607245 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607245;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=rs267607245" 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=rs267607245" 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">rs267607246 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607246;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=rs267607246" 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=rs267607246" 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=RCV000015246 OR RCV000519851 OR RCV000521368 OR RCV001308866 OR RCV001323340 OR RCV001339130" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015246, RCV000519851, RCV000521368, RCV001308866, RCV001323340, RCV001339130" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015246...</a>
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<p>In a patient with a classic CMT2 phenotype (CMT2I; <a href="/entry/607677">607677</a>), <a href="#4" class="mim-tip-reference" title="Boerkoel, C. F., Takashima, H., Garcia, C. A., Olney, R. K., Johnson, J., Berry, K., Russo, P., Kennedy, S., Teebi, A. S., Scavina, M., Williams, L. L., Mancias, P., Butler, I. J., Krajewski, K., Shy, M., Lupski, J. R. <strong>Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.</strong> Ann. Neurol. 51: 190-201, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11835375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11835375</a>] [<a href="https://doi.org/10.1002/ana.10089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11835375">Boerkoel et al. (2002)</a> found heterozygosity for 3 missense mutations in the MPZ gene: ile89-to-asn, val92-to-met, and ile162-to-met. The first 2 mutant amino acids are in the extracellular domain of the P0 protein; ile162-to-met is in the transmembrane domain. <a href="#4" class="mim-tip-reference" title="Boerkoel, C. F., Takashima, H., Garcia, C. A., Olney, R. K., Johnson, J., Berry, K., Russo, P., Kennedy, S., Teebi, A. S., Scavina, M., Williams, L. L., Mancias, P., Butler, I. J., Krajewski, K., Shy, M., Lupski, J. R. <strong>Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.</strong> Ann. Neurol. 51: 190-201, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11835375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11835375</a>] [<a href="https://doi.org/10.1002/ana.10089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11835375">Boerkoel et al. (2002)</a> pointed to another report of a patient with 3 MPZ mutations (<a href="#64" class="mim-tip-reference" title="Warner, L. E., Shohat, M., Shorer, Z., Lupski, J. R. <strong>Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.</strong> Hum. Mutat. 10: 21-24, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9222756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9222756</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:1<21::AID-HUMU3>3.0.CO;2-P" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9222756">Warner et al., 1997</a>); see <a href="#0015">159440.0015</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11835375+9222756" 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> rs121913596 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913596;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/rs121913596?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=rs121913596" 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=rs121913596" 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=RCV000015247 OR RCV000638171 OR RCV001173698 OR RCV001552371" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015247, RCV000638171, RCV001173698, RCV001552371" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015247...</a>
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<p><a href="#37" class="mim-tip-reference" title="Mastaglia, F. L., Nowak, K. J., Stell, R., Phillips, B. A., Edmondston, J. E., Dorosz, S. M., Wilton, S. D., Hallmayer, J., Kakulas, B. A., Laing, N. G. <strong>Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.</strong> J. Neurol. Neurosurg. Psychiat. 67: 174-179, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10406984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10406984</a>] [<a href="https://doi.org/10.1136/jnnp.67.2.174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10406984">Mastaglia et al. (1999)</a> reported a 4-generation Macedonian family with autosomal dominant hereditary motor and sensory neuropathy (HMSN) characterized by variable severity and motor nerve conduction velocities in the intermediate range (CMTDID; <a href="/entry/607791">607791</a>). Affected members displayed a symmetric pattern of distal muscle atrophy, weakness, and sensory impairment in the lower limbs and to a lesser extent in the upper limbs. Motor NCVs ranged from 24-41 m/s for the median nerve and from 33-48 m/s for the ulnar nerve. Nerve biopsy of 2 patients showed primarily axonal degeneration, but also areas of segmental demyelination and remyelination without onion bulb formation. All affected members had a heterozygous G-to-T transversion in the MPZ gene, resulting in an asp6-to-tyr (D6Y) substitution in the extracellular domain of the protein. <a href="#37" class="mim-tip-reference" title="Mastaglia, F. L., Nowak, K. J., Stell, R., Phillips, B. A., Edmondston, J. E., Dorosz, S. M., Wilton, S. D., Hallmayer, J., Kakulas, B. A., Laing, N. G. <strong>Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.</strong> J. Neurol. Neurosurg. Psychiat. 67: 174-179, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10406984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10406984</a>] [<a href="https://doi.org/10.1136/jnnp.67.2.174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10406984">Mastaglia et al. (1999)</a> called the disorder in this family an 'intermediate' form of HMSN between types 1 and 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10406984" 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="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015248 OR RCV000190346 OR RCV001070451" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015248, RCV000190346, RCV001070451" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015248...</a>
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<p>In 3 unrelated patients with axonal CMT2 with pupillary abnormalities and deafness (CMT2J; <a href="/entry/607736">607736</a>), <a href="#38" class="mim-tip-reference" title="Misu, K., Yoshihara, T., Shikama, Y., Awaki, E., Yamamoto, M., Hattori, N., Hirayama, M., Takegami, T., Nakashima, K., Sobue, G. <strong>An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (thr124met or asp75val).</strong> J. Neurol. Neurosurg. Psychiat. 69: 806-811, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11080237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11080237</a>] [<a href="https://doi.org/10.1136/jnnp.69.6.806" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11080237">Misu et al. (2000)</a> identified an A-to-T change in exon 2 of the MPZ gene, resulting in an asp75-to-val (D75V) substitution. Age of onset was relatively late (37 to 61 years) and the presenting symptom was paresthesia in the distal legs. There was also distal leg weakness and atrophy and distal sensory impairment. Two patients had pupillary abnormalities, and 1 also had deafness. NCVs were consistent with axonal neuropathy. The authors noted that the distinctive phenotype, with pupillary abnormalities and deafness, was similar to that reported in some patients with the T124M mutation (<a href="#0016">159440.0016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11080237" 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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MPZ, SER44PHE
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913598 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913598;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=rs121913598" 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=rs121913598" 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=RCV000015249 OR RCV000190345 OR RCV000638152 OR RCV000790099 OR RCV001093014 OR RCV002381251" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015249, RCV000190345, RCV000638152, RCV000790099, RCV001093014, RCV002381251" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015249...</a>
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<p>In a large Sardinian family with a classic CMT2 phenotype (CMT2I; <a href="/entry/607677">607677</a>), <a href="#35" class="mim-tip-reference" title="Marrosu, M. G., Vaccargiu, S., Marrosu, G., Vannelli, A., Cianchetti, C., Muntoni, F. <strong>Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.</strong> Neurology 50: 1397-1401, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9595994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9595994</a>] [<a href="https://doi.org/10.1212/wnl.50.5.1397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9595994">Marrosu et al. (1998)</a> identified a heterozygous mutation in exon 2 of the MPZ gene, resulting in a ser44-to-phe (S44F) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9595994" 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>.0021 ROUSSY-LEVY SYNDROME</strong>
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MPZ, ASN131LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913599 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913599;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=rs121913599" 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=rs121913599" 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=RCV000015250 OR RCV000192587 OR RCV000517209 OR RCV001060346" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015250, RCV000192587, RCV000517209, RCV001060346" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015250...</a>
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<p>In 3 individuals with Roussy-Levy syndrome (<a href="/entry/180800">180800</a>) from the original family described by <a href="#48" class="mim-tip-reference" title="Roussy, G., Levy, G. <strong>Sept cas d'une maladie familiale particulaiere.</strong> Rev. Neurol. 45: 427-450, 1926."None>Roussy and Levy (1926)</a>, <a href="#45" class="mim-tip-reference" title="Plante-Bordeneuve, V., Guiochon-Mantel, A., Lacroix, C., Lapresle, J., Said, G. <strong>The Roussy-Levy family: from the original description to the gene.</strong> Ann. Neurol. 46: 770-773, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10553995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10553995</a>] [<a href="https://doi.org/10.1002/1531-8249(199911)46:5<770::aid-ana13>3.0.co;2-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10553995">Plante-Bordeneuve et al. (1999)</a> identified a heterozygous 727C-A transition in exon 3 of the MPZ gene, resulting in an asn131-to-lys (N131K) substitution in the extracellular domain of the protein. The authors concluded that the Roussy-Levy family falls into the CMT1B (<a href="/entry/118200">118200</a>) subgroup of the hereditary demyelinating polyneuropathies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10553995" 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="0022" class="mim-anchor"></a>
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<strong>.0022 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</strong>
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MPZ, GLY74GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913600 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913600;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=rs121913600" 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=rs121913600" 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=RCV000015251 OR RCV000536804 OR RCV001818160 OR RCV002321483" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015251, RCV000536804, RCV001818160, RCV002321483" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015251...</a>
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<p>In 2 sisters with a severe early-onset form of demyelinating Charcot-Marie-Tooth disease type 1B (CMT1B; <a href="/entry/118200">118200</a>), <a href="#9" class="mim-tip-reference" title="Fabrizi, G. M., Ferrarini, M., Cavallaro, T., Jarre, L., Polo, A., Rizzuto, N. <strong>A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B.</strong> Neurology 57: 101-105, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11445635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11445635</a>] [<a href="https://doi.org/10.1212/wnl.57.1.101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11445635">Fabrizi et al. (2001)</a> identified a heterozygous 308G-A change in exon 3 of the MPZ gene, resulting in a gly74-to-glu (G74E) substitution. Because both parents were asymptomatic, the disorder at first appeared to be autosomal recessive. However, molecular analysis showed that the mother was a mosaic for the mutation in somatic cells and presumably in germline cells, thus confirming autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11445635" 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="0023" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0023 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS</strong>
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</span>
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</h4>
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MPZ, SER49LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913601 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913601;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=rs121913601" 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=rs121913601" 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=RCV000015252 OR RCV000436362 OR RCV000546842 OR RCV001173691" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015252, RCV000436362, RCV000546842, RCV001173691" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015252...</a>
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<p>In 2 pedigrees with a late-onset, relatively mild form of Charcot-Marie-Tooth disease 1B with focally folded myelin sheaths (CMT1B; <a href="/entry/118200">118200</a>), <a href="#11" class="mim-tip-reference" title="Fabrizi, G. M., Taioli, F., Cavallaro, T., Rigatelli, F., Simonati, A., Mariani, G., Perrone, P., Rizzuto, N. <strong>Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with ser49leu in the myelin protein zero.</strong> Acta Neuropath. 100: 299-304, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10965800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10965800</a>] [<a href="https://doi.org/10.1007/s004019900175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10965800">Fabrizi et al. (2000)</a> identified a heterozygous 233C-T transition in exon 2 of the MPZ gene, resulting in a ser49-to-leu (S49L) substitution in the extracellular domain of the protein. Pathology showed a characteristic demyelinating process, but also revealed irregular myelin outfoldings and infoldings and tomacula. <a href="#11" class="mim-tip-reference" title="Fabrizi, G. M., Taioli, F., Cavallaro, T., Rigatelli, F., Simonati, A., Mariani, G., Perrone, P., Rizzuto, N. <strong>Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with ser49leu in the myelin protein zero.</strong> Acta Neuropath. 100: 299-304, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10965800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10965800</a>] [<a href="https://doi.org/10.1007/s004019900175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10965800">Fabrizi et al. (2000)</a> noted that the mutation exchanges a polar amino acid with a hydrophobic amino acid, and suggested that the change would result in myelin uncompaction which could lead to out- or infoldings. The authors also noted that myelin outfoldings have been described in other CMT patients with mutations in MPZ, EGR2 (<a href="/entry/129010#0004">129010.0004</a>), and PMP22 (<a href="/entry/601097#0016">601097.0016</a>), and that the finding is not restricted to CMT4B (see CMT4B1; <a href="/entry/601382">601382</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10965800" 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="0024" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0024 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS</strong>
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MPZ, ILE62PHE
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913602 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913602;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=rs121913602" 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=rs121913602" 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=RCV000015253" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015253" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015253</a>
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<p>In a family with Charcot-Marie-Tooth disease 1B with focally folded myelin sheaths (CMT1B; <a href="/entry/118200">118200</a>) first reported by <a href="#62" class="mim-tip-reference" title="Umehara, F., Takenaga, S., Nakagawa, M., Takahashi, K., Izumo, S., Matsumuro, K., Sakota, S., Nishimura, T., Yoshikawa, H., Osame, M. <strong>Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex.</strong> Acta Neuropath. 86: 602-608, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8310815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8310815</a>] [<a href="https://doi.org/10.1007/BF00294299" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8310815">Umehara et al. (1993)</a>, <a href="#40" class="mim-tip-reference" title="Nakagawa, M., Suehara, M., Saito, A., Takashima, H., Umehara, F., Saito, M., Kanzato, N., Matsuzaki, T., Takenaga, S., Sakoda, S., Izumo, S., Osame, M. <strong>A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths.</strong> Neurology 52: 1271-1275, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10214757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10214757</a>] [<a href="https://doi.org/10.1212/wnl.52.6.1271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10214757">Nakagawa et al. (1999)</a> identified a heterozygous 184A-T transversion in exon 2 of the MPZ gene, resulting in an ile62-to-phe (I62F) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8310815+10214757" 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="0025" class="mim-anchor"></a>
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<strong>.0025 DEJERINE-SOTTAS SYNDROME, AUTOSOMAL RECESSIVE</strong>
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MPZ, 1-BP DEL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281865125 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865125;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=rs281865125" 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=rs281865125" 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=RCV000033916 OR RCV000789496 OR RCV001705641 OR RCV001852684 OR RCV002277116" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033916, RCV000789496, RCV001705641, RCV001852684, RCV002277116" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033916...</a>
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<p>In 2 sibs with autosomal recessive Dejerine-Sottas syndrome (DSS; <a href="/entry/145900">145900</a>), <a href="#63" class="mim-tip-reference" title="Warner, L. E., Hilz, M. J., Appel, S. H., Killian, J. M., Kolodny, E. H., Karpati, G., Carpenter, S., Watters, G. V., Wheeler, C., Witt, D., Bodell, A., Nelis, E., Van Broeckhoven, C., Lupski, J. R. <strong>Clinical phenotypes of different MPZ(P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.</strong> Neuron 17: 451-460, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8816708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8816708</a>] [<a href="https://doi.org/10.1016/s0896-6273(00)80177-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8816708">Warner et al. (1996)</a> identified homozygosity for a gly74 frameshift mutation in the MPZ gene. The mutation, a 1-bp deletion, led to premature termination that predicted a truncated protein of only 87 amino acids. This truncated protein was presumably degraded and never reached the membrane. Therefore, this mutation probably constituted a loss-of-function allele. The consanguineous parents, who were heterozygous for the 1-bp deletion, had a mild neuropathy with features of CMT1B. The children presented with the phenotype of Dejerine-Sottas syndrome which behaved as a recessive trait in this family, as compared to the dominant inheritance in other families (e.g., <a href="#0004">159440.0004</a>). This phenotypic variation between the heterozygous and the homozygous state closely resembled that seen in Mpz knockout mice (<a href="#36" class="mim-tip-reference" title="Martini, R., Zielasek, J., Toyka, K. V., Giese, K. P., Schachner, M. <strong>Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies.</strong> Nature Genet. 11: 281-286, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581451</a>] [<a href="https://doi.org/10.1038/ng1195-281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581451">Martini et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7581451+8816708" 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>.0026 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</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> rs121913603 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913603;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/rs121913603?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=rs121913603" 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=rs121913603" 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=RCV000015255 OR RCV000234112 OR RCV000235936 OR RCV000763260 OR RCV004528113" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015255, RCV000234112, RCV000235936, RCV000763260, RCV004528113" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015255...</a>
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<p>In affected members of a Costa Rican family with Charcot-Marie-Tooth disease (CMT1B; <a href="/entry/118200">118200</a>), <a href="#27" class="mim-tip-reference" title="Leal, A., Berghoff, C., Berghoff, M., Del Valle, G., Contreras, C., Montoya, O., Hernandez, E., Barrantes, R., Schlotzer-Schrehardt, U., Neundorfer, B., Reis, A., Rautenstrauss, B., Heuss, D. <strong>Charcot-Marie-Tooth disease: a novel tyr145ser mutation in the myelin protein zero (MPZ, PO) gene causes different phenotypes in homozygous and heterozygous carriers within one family.</strong> Neurogenetics 4: 191-197, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12845552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12845552</a>] [<a href="https://doi.org/10.1007/s10048-003-0153-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12845552">Leal et al. (2003)</a> identified a tyr145-to-ser (Y145S) mutation in the MPZ gene. Four affected members were heterozygous for the mutation; 2 offspring of 2 heterozygous carrier parents were homozygous for the mutation. On neurologic examination, the heterozygous parents and their homozygous children all showed distal sensory deficits. The mother and the offspring displayed impaired deep tendon reflexes and mild sensory ataxia. The homozygous individuals were more severely affected with an earlier age at onset, distal motor weakness, and pupillary abnormalities. Electrophysiologic studies revealed signs of demyelination and axonal nerve degeneration. The sural nerve biopsy of 1 offspring showed thinly myelinated nerve fibers, onion bulb formation, and clusters of regenerating fibers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12845552" 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 NEUROPATHY, CONGENITAL HYPOMYELINATING, 2</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">rs1571818007 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1571818007;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=rs1571818007" 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=rs1571818007" 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=RCV000789489 OR RCV002279942" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000789489, RCV002279942" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000789489...</a>
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<p>In a patient with congenital hypomyelinating neuropathy-2 (CHN2; <a href="/entry/618184">618184</a>), <a href="#58" class="mim-tip-reference" title="Szigeti, K., Saifi, G. M., Armstrong, D., Belmont, J. W., Miller, G., Lupski, J. R. <strong>Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation.</strong> Ann. Neurol. 54: 398-402, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12953275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12953275</a>] [<a href="https://doi.org/10.1002/ana.10681" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12953275">Szigeti et al. (2003)</a> identified a heterozygous 3-bp deletion (550delCTA) and a 1-bp insertion (550insG) in the MPZ gene, predicted to result in a protein in which the last 65 amino acids are replaced with a 49-amino acid novel sequence. The authors noted that the mutation may result in decreased adhesion capacity of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12953275" 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>.0028 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I</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">rs121913604 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913604;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=rs121913604" 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=rs121913604" 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=RCV000015257 OR RCV002226649 OR RCV002514101" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015257, RCV002226649, RCV002514101" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015257...</a>
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<p>In 4 affected members of a family with very late onset axonal Charcot-Marie-Tooth disease (CMT2I; <a href="/entry/607677">607677</a>), <a href="#1" class="mim-tip-reference" title="Auer-Grumbach, M., Strasser-Fuchs, S., Robl, T., Windpassinger, C., Wagner, K. <strong>Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.</strong> Neurology 61: 1435-1437, 2003. Note: Erratum: Neurology 62: 678 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14638973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14638973</a>] [<a href="https://doi.org/10.1212/01.wnl.0000094197.46109.75" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14638973">Auer-Grumbach et al. (2003)</a> identified a 178G-C transversion in exon 2 of the MPZ gene, resulting in an asp60-to-his (D60H) substitution, which they incorrectly reported as ASN60HIS. <a href="#22" class="mim-tip-reference" title="Kamholz, J., Shy, M. E. <strong>Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.</strong> Neurology 63: 194 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15249646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15249646</a>] [<a href="https://doi.org/10.1212/wnl.63.1.194" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15249646">Kamholz and Shy (2004)</a> reported the correct mutation as D60H. The patients had onset of symptomatic disease, primarily gait abnormalities, at the ages of 70, 60, 68, and 70 years. The phenotype was consistent with axonal CMT with prominent sensory involvement. Five asymptomatic family members with the mutation were younger than 57 years. The authors noted that patients with very late onset may appear to have an acquired neuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15249646+14638973" 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>.0029 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I</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> rs121913605 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913605;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/rs121913605?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=rs121913605" 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=rs121913605" 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=RCV000015258 OR RCV000799870 OR RCV001196641 OR RCV003318543 OR RCV003736538" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015258, RCV000799870, RCV001196641, RCV003318543, RCV003736538" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015258...</a>
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<p>In a patient with late-onset axonal Charcot-Marie-Tooth disease (CMT2I; <a href="/entry/607677">607677</a>), <a href="#1" class="mim-tip-reference" title="Auer-Grumbach, M., Strasser-Fuchs, S., Robl, T., Windpassinger, C., Wagner, K. <strong>Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.</strong> Neurology 61: 1435-1437, 2003. Note: Erratum: Neurology 62: 678 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14638973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14638973</a>] [<a href="https://doi.org/10.1212/01.wnl.0000094197.46109.75" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14638973">Auer-Grumbach et al. (2003)</a> identified a 186C-G transversion in the MPZ gene, resulting in an ile62-to-met (I62M) substitution. The patient first noted weakness and reduced sensation in the toes at age 65 years. The disorder was progressive within the next few years, leading to marked disability. The authors noted that patients with late onset may appear to have an acquired neuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14638973" 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 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J</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">rs121913606 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913606;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=rs121913606" 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=rs121913606" 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=RCV000015259 OR RCV001851868" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015259, RCV001851868" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015259...</a>
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<p>In 3 affected members spanning 3 generations of a Czech family with Charcot-Marie-Tooth disease type 2J (CMT2J; <a href="/entry/607736">607736</a>), <a href="#51" class="mim-tip-reference" title="Seeman, P., Mazanec, R., Huehne, K., Suslikova, P., Keller, O., Rautenstrauss, B. <strong>Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.</strong> Neurology 63: 733-735, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15326256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15326256</a>] [<a href="https://doi.org/10.1212/01.wnl.0000134605.61307.de" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15326256">Seeman et al. (2004)</a> identified a heterozygous 290A-T transversion in exon 3 of the MPZ gene, resulting in a glu97-to-val (E97V) substitution. The mutation was not identified in 100 control chromosomes. <a href="#51" class="mim-tip-reference" title="Seeman, P., Mazanec, R., Huehne, K., Suslikova, P., Keller, O., Rautenstrauss, B. <strong>Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.</strong> Neurology 63: 733-735, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15326256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15326256</a>] [<a href="https://doi.org/10.1212/01.wnl.0000134605.61307.de" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15326256">Seeman et al. (2004)</a> noted that sensorineural hearing loss and slowed pupillary reactions occurred at least 10 years before the onset of distal muscle weakness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15326256" 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 NEUROPATHY, CONGENITAL HYPOMYELINATING, 2</strong>
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MPZ, THR124LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913595 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913595;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=rs121913595" 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=rs121913595" 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=RCV000015260" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015260" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015260</a>
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<p>In a Polish patient with congenital hypomyelinating neuropathy-2 (CHN2; <a href="/entry/618184">618184</a>), <a href="#25" class="mim-tip-reference" title="Kochanski, A., Drac, H., Kabzinska, D., Ryniewicz, B., Rowinska-Marcinska, K., Nowakowski, A., Hausmanowa-Petrusewicz, I. <strong>A novel MPZ gene mutation in congenital neuropathy with hypomyelination.</strong> Neurology 62: 2122-2123, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15184631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15184631</a>] [<a href="https://doi.org/10.1212/01.wnl.0000127606.93772.3a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15184631">Kochanski et al. (2004)</a> identified a de novo heterozygous 704C-A transversion in exon 3 of the MPZ gene, resulting in a thr124-to-lys (T124K) substitution. The patient had a severe disease course, becoming wheelchair-bound by age 12 years. The authors noted that another mutation at the same codon, T124M (<a href="#0016">159440.0016</a>), had been identified in patients with axonal forms of CMT. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15184631" 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="0032" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0032 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</strong>
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MPZ, IVS4DS, T-G, +2
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs879254054 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879254054;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=rs879254054" 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=rs879254054" 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=RCV000015261 OR RCV000235519 OR RCV000790116 OR RCV005090191" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015261, RCV000235519, RCV000790116, RCV005090191" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015261...</a>
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<p>In affected members of a family with Charcot-Marie-Tooth disease 1B (CMT1B; <a href="/entry/118200">118200</a>), <a href="#49" class="mim-tip-reference" title="Sabet, A., Li, J., Ghandour, K., Pu, Q., Wu, X., Kamholz, J., Shy, M. E., Cambi, F. <strong>Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B.</strong> Neurology 67: 1141-1146, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17030746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17030746</a>] [<a href="https://doi.org/10.1212/01.wnl.0000238499.37764.b1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17030746">Sabet et al. (2006)</a> identified a heterozygous T-to-G transversion at the +2 position of intron 4 of the MPZ gene. The mutation was predicted to alter the conserved splice site and result in the skipping of exon 4. The phenotype was a late-onset, relatively mild, and slowly progressive lower limb neuropathy. RT-PCR analysis of skin biopsies from the proband showed that the mutant protein lacked the transmembrane domain encoded by exon 4. Quantitative immunoelectron microscopy demonstrated normal levels of MPZ within the myelin, indicating that the mutant protein had been transported to compact myelin. <a href="#49" class="mim-tip-reference" title="Sabet, A., Li, J., Ghandour, K., Pu, Q., Wu, X., Kamholz, J., Shy, M. E., Cambi, F. <strong>Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B.</strong> Neurology 67: 1141-1146, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17030746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17030746</a>] [<a href="https://doi.org/10.1212/01.wnl.0000238499.37764.b1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17030746">Sabet et al. (2006)</a> postulated a dominant-negative or gain-of-function effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17030746" 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="0033" class="mim-anchor"></a>
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<strong>.0033 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</strong>
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MPZ, GLY123SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913608 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913608;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=rs121913608" 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=rs121913608" 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=RCV000015262 OR RCV000790090" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015262, RCV000790090" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015262...</a>
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<p>In multiple affected members of a Chinese family with Charcot-Marie-Tooth disease type 1B (CMT1B; <a href="/entry/118200">118200</a>), <a href="#28" class="mim-tip-reference" title="Lee, Y. C., Yu, C. T. R., Lin, K. P., Chang, M. H., Hsu, S. L., Liu, Y. F., Lu, Y. C., Soong, B. W. <strong>MPZ mutation G123S characterization: evidence for a complex pathogenesis in CMT disease.</strong> Neurology 70: 273-277, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18209201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18209201</a>] [<a href="https://doi.org/10.1212/01.wnl.0000296828.66915.bf" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18209201">Lee et al. (2008)</a> identified a heterozygous 367G-A transition in the MPZ gene, resulting in a gly123-to-ser (G123S) substitution in the extracellular domain of the protein. In vitro functional expression studies found that most of the mutant protein was localized in the cytosol and associated with the endoplasmic reticulum or Golgi apparatus, with very little protein on the plasma membrane. Cultured cells carrying the mutation showed decreased adhesiveness compared to cells with wildtype MPZ, and sural nerve biopsy revealed severe loss of myelinated fibers. <a href="#28" class="mim-tip-reference" title="Lee, Y. C., Yu, C. T. R., Lin, K. P., Chang, M. H., Hsu, S. L., Liu, Y. F., Lu, Y. C., Soong, B. W. <strong>MPZ mutation G123S characterization: evidence for a complex pathogenesis in CMT disease.</strong> Neurology 70: 273-277, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18209201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18209201</a>] [<a href="https://doi.org/10.1212/01.wnl.0000296828.66915.bf" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18209201">Lee et al. (2008)</a> hypothesized that the mutation resulted in defective adhesion, which could compromise myelin compaction and result in peripheral demyelination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18209201" 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="0034" class="mim-anchor"></a>
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<strong>.0034 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J</strong>
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MPZ, PRO105THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913609 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913609;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=rs121913609" 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=rs121913609" 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=RCV000015263 OR RCV000223657 OR RCV001308867" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015263, RCV000223657, RCV001308867" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015263...</a>
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<p>In affected members of a family with late-onset axonal CMT and progressive hearing loss (CMT2J; <a href="/entry/607736">607736</a>), <a href="#20" class="mim-tip-reference" title="Kabzinska, D., Korwin-Piotrowska, T., Dreschler, H., Drac, H., Hausmanowa-Petrusewicz, I., Kochanski, A. <strong>Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene. (Letter)</strong> Am. J. Med. Genet. 143A: 2196-2199, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17663472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17663472</a>] [<a href="https://doi.org/10.1002/ajmg.a.31908" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17663472">Kabzinska et al. (2007)</a> identified a heterozygous 647C-A transversion in exon 3 of the MPZ gene, resulting in a pro105-to-thr (P105T) substitution in a conserved residue in the extracellular domain. Although none of the patients presented with hearing loss, all had some evidence of hearing loss on audiometric studies. The mutation was not identified in 100 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17663472" 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 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</strong>
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MPZ, VAL102VAL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1558154193 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1558154193;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=rs1558154193" 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=rs1558154193" 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=RCV000015264 OR RCV000790070 OR RCV000795131" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015264, RCV000790070, RCV000795131" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015264...</a>
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<p>In 4 affected members of a family with Charcot-Marie-Tooth disease type 1B (CMT1B; <a href="/entry/118200">118200</a>), <a href="#7" class="mim-tip-reference" title="Crehalet, H., Latour, P., Bonnet, V., Attarian, S., Labauge, P., Bonello, N., Bernard, R., Millat, G., Rousson, R., Bozon, D. <strong>U1 snRNA mis-binding: a new cause of CMT1B.</strong> Neurogenetics 11: 13-19, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19475438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19475438</a>] [<a href="https://doi.org/10.1007/s10048-009-0199-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19475438">Crehalet et al. (2010)</a> identified a heterozygous 306G-A transition in exon 3 of the MPZ gene, resulting in a synonymous val102-to-val (V102V) change. In silico analysis predicted that the G-to-A transition would result in increased strength of a cryptic donor splice site, and in vitro cellular studies showed that the 306A variant resulted in a truncated protein. The variant created a sequence that better matched the binding domain for U1 snRNA (RNU1A; <a href="/entry/180680">180680</a>), which is required for correct splicing. The phenotype was an adult-onset neuropathy with moderately decreased NCVs, consistent with haploinsufficiency. The findings were important in demonstrating that so-called 'silent' mutations may be disease-causing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19475438" 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 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</strong>
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MPZ, ASP195TYR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267607247 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607247;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=rs267607247" 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=rs267607247" 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=RCV000033921 OR RCV000700463 OR RCV000789431 OR RCV002362608" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033921, RCV000700463, RCV000789431, RCV002362608" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033921...</a>
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<p>In an Italian father and daughter with Charcot-Marie-Tooth disease type 1B (CMT1B; <a href="/entry/118200">118200</a>), <a href="#10" class="mim-tip-reference" title="Fabrizi, G. M., Pellegrini, M., Angiari, C., Cavallaro, T., Morini, A., Taioli, F., Cabrini, I., Orrico, D., Rizzuto, N. <strong>Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.</strong> Neuromusc. Disord. 16: 183-187, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16488608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16488608</a>] [<a href="https://doi.org/10.1016/j.nmd.2006.01.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16488608">Fabrizi et al. (2006)</a> identified a homozygous 670G-T transversion in the MPZ gene, resulting in an asp195-to-tyr (D195Y) substitution in a conserved residue in the intracellular domain of the protein. The mutation was absent in 200 control chromosomes. The father and daughter had classic features of the disorder, including severely decreased NCVs (less than 30 m/s). In contrast, the 41-year-old sister and 75-year-old mother of the proband, who were both heterozygous for the mutation, showed no clinical features except for mildly decreased vibration sense in the distal legs in the mother. Electrophysiologic diffuse mild slowing of NCV in the mother (41 m/s) and daughter (44 m/s). <a href="#10" class="mim-tip-reference" title="Fabrizi, G. M., Pellegrini, M., Angiari, C., Cavallaro, T., Morini, A., Taioli, F., Cabrini, I., Orrico, D., Rizzuto, N. <strong>Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.</strong> Neuromusc. Disord. 16: 183-187, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16488608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16488608</a>] [<a href="https://doi.org/10.1016/j.nmd.2006.01.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16488608">Fabrizi et al. (2006)</a> speculated that the mutation may interfere with a functional phosphorylation site and affect molecular adhesions. Since only the homozygous individuals had an overt phenotype, <a href="#10" class="mim-tip-reference" title="Fabrizi, G. M., Pellegrini, M., Angiari, C., Cavallaro, T., Morini, A., Taioli, F., Cabrini, I., Orrico, D., Rizzuto, N. <strong>Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.</strong> Neuromusc. Disord. 16: 183-187, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16488608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16488608</a>] [<a href="https://doi.org/10.1016/j.nmd.2006.01.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16488608">Fabrizi et al. (2006)</a> concluded that the mutation showed semidominant inheritance in this family. The authors suggested that mutation in the intracellular domain of MPZ, which is a rare occurrence, results in a gene dosage effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16488608" 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 NEUROPATHY, CONGENITAL HYPOMYELINATING, 2</strong>
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MPZ, 1-BP INS, 549G
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1560046845 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1560046845;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=rs1560046845" 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=rs1560046845" 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=RCV000722093" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000722093" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000722093</a>
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<p>In a father and daughter with congenital hypomyelinating neuropathy-2 (CHN2; <a href="/entry/618184">618184</a>), <a href="#54" class="mim-tip-reference" title="Smit, L. S., Roofthooft, D., van Ruissen, F., Baas, F., van Doorn, P. A. <strong>Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family.</strong> Neuromusc. Disord. 18: 59-62, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17825553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17825553</a>] [<a href="https://doi.org/10.1016/j.nmd.2007.07.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17825553">Smit et al. (2008)</a> identified a heterozygous 1-bp insertion (c.549_550insG, NM_000539) in exon 4 of the MPZ gene, resulting in a frameshift and premature termination (Leu184AlafsTer51). The mutation was not found in 900 control chromosomes. Functional studies of the variant were not performed, but it was predicted to interfere with adhesion properties of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17825553" 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>See Also:</strong>
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<a href="#Harati1985" class="mim-tip-reference" title="Harati, Y., Butler, I. J. <strong>Congenital hypomyelinating neuropathy.</strong> J. Neurol. Neurosurg. Psychiat. 48: 1269-1276, 1985.">Harati and Butler (1985)</a>; <a href="#Lemke1985" class="mim-tip-reference" title="Lemke, G., Axel, R. <strong>Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin.</strong> Cell 40: 501-508, 1985.">Lemke and Axel (1985)</a>; <a href="#Skre1974" class="mim-tip-reference" title="Skre, H. <strong>Genetic and clinical aspects of Charcot-Marie-Tooth disease.</strong> Clin. Genet. 6: 98-118, 1974.">Skre (1974)</a>
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<strong>REFERENCES</strong>
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<a id="Auer-Grumbach2003" class="mim-anchor"></a>
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Auer-Grumbach, M., Strasser-Fuchs, S., Robl, T., Windpassinger, C., Wagner, K.
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<strong>Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.</strong>
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Neurology 61: 1435-1437, 2003. Note: Erratum: Neurology 62: 678 only, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14638973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14638973</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14638973" 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/10.1212/01.wnl.0000094197.46109.75" target="_blank">Full Text</a>]
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<a id="Baloh2004" class="mim-anchor"></a>
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Baloh, R. H., Jen, J. C., Kim, G., Baloh, R. W.
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<strong>Chronic cough due to thr124met mutation in the peripheral myelin protein zero (MPZ gene).</strong>
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Neurology 62: 1905-1906, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15159512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15159512</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15159512" 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/10.1212/01.wnl.0000125287.98456.23" target="_blank">Full Text</a>]
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<a id="Blanquet-Grossard1995" class="mim-anchor"></a>
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Blanquet-Grossard, F., Pham-Dinh, D., Dautigny, A., Latour, P., Bonnebouche, C., Corbillon, E., Chazot, G., Vandenberghe, A.
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<strong>Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein P0 gene.</strong>
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Clin. Genet. 48: 281-283, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8835320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8835320</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8835320" 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.1399-0004.1995.tb04109.x" target="_blank">Full Text</a>]
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<a id="Boerkoel2002" class="mim-anchor"></a>
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Boerkoel, C. F., Takashima, H., Garcia, C. A., Olney, R. K., Johnson, J., Berry, K., Russo, P., Kennedy, S., Teebi, A. S., Scavina, M., Williams, L. L., Mancias, P., Butler, I. J., Krajewski, K., Shy, M., Lupski, J. R.
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<strong>Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.</strong>
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Ann. Neurol. 51: 190-201, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11835375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11835375</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11835375" 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/ana.10089" target="_blank">Full Text</a>]
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Carter, M. S., Li, S., Wilkinson, M. F.
|
|
<strong>A splicing-dependent regulatory mechanism that detects translation signals.</strong>
|
|
EMBO J. 15: 5965-5975, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8918474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8918474</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8918474" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Chapon1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chapon, F., Latour, P., Diraison, P., Schaeffer, S., Vandenberghe, A.
|
|
<strong>Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 66: 779-782, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10329755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10329755</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10329755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jnnp.66.6.779" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Crehalet2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Crehalet, H., Latour, P., Bonnet, V., Attarian, S., Labauge, P., Bonello, N., Bernard, R., Millat, G., Rousson, R., Bozon, D.
|
|
<strong>U1 snRNA mis-binding: a new cause of CMT1B.</strong>
|
|
Neurogenetics 11: 13-19, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19475438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19475438</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19475438" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s10048-009-0199-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="De Jonghe1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
De Jonghe, P., Timmerman, V., Ceuterick, C., Nelis, E., De Vriendt, E., Lofgren, A., Vercruyssen, A., Verellen, C., Van Maldergem, L., Martin, J.-J., Van Broeckhoven, C.
|
|
<strong>The thr124-to-met mutation in peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.</strong>
|
|
Brain 122: 281-290, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10071056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10071056</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10071056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/brain/122.2.281" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Fabrizi2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fabrizi, G. M., Ferrarini, M., Cavallaro, T., Jarre, L., Polo, A., Rizzuto, N.
|
|
<strong>A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B.</strong>
|
|
Neurology 57: 101-105, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11445635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11445635</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11445635" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.57.1.101" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Fabrizi2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fabrizi, G. M., Pellegrini, M., Angiari, C., Cavallaro, T., Morini, A., Taioli, F., Cabrini, I., Orrico, D., Rizzuto, N.
|
|
<strong>Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.</strong>
|
|
Neuromusc. Disord. 16: 183-187, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16488608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16488608</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16488608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.nmd.2006.01.006" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Fabrizi2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fabrizi, G. M., Taioli, F., Cavallaro, T., Rigatelli, F., Simonati, A., Mariani, G., Perrone, P., Rizzuto, N.
|
|
<strong>Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with ser49leu in the myelin protein zero.</strong>
|
|
Acta Neuropath. 100: 299-304, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10965800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10965800</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10965800" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s004019900175" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Harati1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Harati, Y., Butler, I. J.
|
|
<strong>Congenital hypomyelinating neuropathy.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 48: 1269-1276, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4087003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4087003</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4087003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jnnp.48.12.1269" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Hayasaka1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hayasaka, K., Himoro, M., Sato, W., Takada, G., Uyemura, K., Shimizu, N., Bird, T. D., Conneally, P. M., Chance, P. F.
|
|
<strong>Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P(0) gene.</strong>
|
|
Nature Genet. 5: 31-34, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7693129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7693129</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7693129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng0993-31" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Hayasaka1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hayasaka, K., Himoro, M., Sawaishi, Y., Nanao, K., Takahashi, T., Takada, G., Nicholson, G. A., Ouvrier, R. A., Tachi, N.
|
|
<strong>De novo mutation of the myelin P(0) gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).</strong>
|
|
Nature Genet. 5: 266-268, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7506095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7506095</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7506095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng1193-266" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Hayasaka1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hayasaka, K., Himoro, M., Wang, Y., Takata, M., Minoshima, S., Shimizu, N., Miura, M., Uyemura, K., Takada, G.
|
|
<strong>Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ).</strong>
|
|
Genomics 17: 755-758, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7503936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7503936</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7503936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/geno.1993.1400" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Hayasaka1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hayasaka, K., Nanao, K., Tahara, M., Sato, W., Takada, G., Miura, M., Uyemura, K.
|
|
<strong>Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin.</strong>
|
|
Biochem. Biophys. Res. Commun. 180: 515-518, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1719967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1719967</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1719967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0006-291x(05)81094-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Hayasaka1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hayasaka, K., Ohnishi, A., Takada, G., Fukushima, Y., Murai, Y.
|
|
<strong>Mutation of the myeline (sic) P0 gene in the Charcot-Marie-Tooth neuropathy type 1.</strong>
|
|
Biochem. Biophys. Res. Commun. 194: 1317-1322, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7688964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7688964</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7688964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/bbrc.1993.1968" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Ikegami1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ikegami, T., Nicholson, G., Ikeda, H., Ishida, A., Johnston, H., Wise, G., Ouvrier, R., Hayasaka, K.
|
|
<strong>A novel homozygous mutation of the myelin P(0) gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).</strong>
|
|
Biochem. Biophys. Res. Commun. 222: 107-110, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630052</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8630052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/bbrc.1996.0705" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Inoue2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Inoue, K., Khajavi, M., Ohyama, T., Hirabayashi, S., Wilson, J., Reggin, J. D., Mancias, P., Butler, I. J., Wilkinson, M. F., Wegner, M., Lupski, J. R.
|
|
<strong>Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.</strong>
|
|
Nature Genet. 36: 361-369, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15004559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15004559</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15004559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng1322" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Kabzinska2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kabzinska, D., Korwin-Piotrowska, T., Dreschler, H., Drac, H., Hausmanowa-Petrusewicz, I., Kochanski, A.
|
|
<strong>Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene. (Letter)</strong>
|
|
Am. J. Med. Genet. 143A: 2196-2199, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17663472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17663472</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17663472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.31908" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Kaku1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kaku, D. A., Parry, G. J., Malamut, R., Lupski, J. R., Garcia, C. A.
|
|
<strong>Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17.</strong>
|
|
Neurology 43: 1806-1808, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8414036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8414036</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8414036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.43.9.1806" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Kamholz2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kamholz, J., Shy, M. E.
|
|
<strong>Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.</strong>
|
|
Neurology 63: 194 only, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15249646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15249646</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15249646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.63.1.194" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Khajavi2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Khajavi, M., Inoue, K., Wisniewski, W., Ohyama, T., Snipes, G. J., Lupski, J. R.
|
|
<strong>Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.</strong>
|
|
Am. J. Hum. Genet. 77: 841-850, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16252242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16252242</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16252242[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16252242" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/497541" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Killian1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Killian, J. M., Kloepfer, H. W.
|
|
<strong>Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy.</strong>
|
|
Ann. Neurol. 5: 515-522, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/475348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">475348</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=475348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.410050604" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Kochanski2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kochanski, A., Drac, H., Kabzinska, D., Ryniewicz, B., Rowinska-Marcinska, K., Nowakowski, A., Hausmanowa-Petrusewicz, I.
|
|
<strong>A novel MPZ gene mutation in congenital neuropathy with hypomyelination.</strong>
|
|
Neurology 62: 2122-2123, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15184631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15184631</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15184631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/01.wnl.0000127606.93772.3a" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Kulkens1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kulkens, T., Bolhuis, P. A., Wolterman, R. A., Kemp, S., te Nijenhuis, S., Valentijn, L. J., Hensels, G. W., Jennekens, F. G. I., de Visser, M., Hoogendijk, J. E., Baas, F.
|
|
<strong>Deletion of the serine 34 codon from the major peripheral myelin protein P(0) gene in Charcot-Marie-Tooth disease type 1B.</strong>
|
|
Nature Genet. 5: 35-39, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7693130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7693130</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7693130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng0993-35" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Leal2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Leal, A., Berghoff, C., Berghoff, M., Del Valle, G., Contreras, C., Montoya, O., Hernandez, E., Barrantes, R., Schlotzer-Schrehardt, U., Neundorfer, B., Reis, A., Rautenstrauss, B., Heuss, D.
|
|
<strong>Charcot-Marie-Tooth disease: a novel tyr145ser mutation in the myelin protein zero (MPZ, PO) gene causes different phenotypes in homozygous and heterozygous carriers within one family.</strong>
|
|
Neurogenetics 4: 191-197, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12845552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12845552</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12845552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s10048-003-0153-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Lee2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lee, Y. C., Yu, C. T. R., Lin, K. P., Chang, M. H., Hsu, S. L., Liu, Y. F., Lu, Y. C., Soong, B. W.
|
|
<strong>MPZ mutation G123S characterization: evidence for a complex pathogenesis in CMT disease.</strong>
|
|
Neurology 70: 273-277, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18209201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18209201</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18209201" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/01.wnl.0000296828.66915.bf" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Lemke1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lemke, G., Axel, R.
|
|
<strong>Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin.</strong>
|
|
Cell 40: 501-508, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2578885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2578885</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2578885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0092-8674(85)90198-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Lemke1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lemke, G.
|
|
<strong>Molecular biology of the major myelin genes.</strong>
|
|
Trends Neurosci. 9: 266-270, 1986.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Lupski1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lupski, J. R., Montes de Oca-Luna, R., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B. J., Saucedo-Cardenas, O., Barker, D. F., Killian, J. M., Garcia, C. A., Chakravarti, A., Patel, P. I.
|
|
<strong>DNA duplication associated with Charcot-Marie-Tooth disease type 1A.</strong>
|
|
Cell 66: 219-232, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1677316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1677316</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1677316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0092-8674(91)90613-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Maeda2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Maeda, M. H., Mitsui, J., Soong, B.-W., Takahashi, Y., Ishiura, H., Hayashi, S., Shirota, Y., Ichikawa, Y., Matsumoto, H., Arai, M., Okamoto, T., Miyama, S., Shimizu, J., Inazawa, J., Goto, J., Tsuji, S.
|
|
<strong>Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.</strong>
|
|
Ann. Neurol. 71: 84-92, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22275255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22275255</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22275255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.22658" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Mandich2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mandich, P., Fossa, P., Capponi, S., Geroldi, A., Acquaviva, M., Gulli, R., Ciotti, P., Manganelli, F., Grandis, M., Bellone, E.
|
|
<strong>Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.</strong>
|
|
Europ. J. Hum. Genet. 17: 1129-1134, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19293842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19293842</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19293842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ejhg.2009.37" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Mandich1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mandich, P., Mancardi, G. L., Varese, A., Soriani, S., Di Maria, E., Bellone, E., Bado, M., Gross, L., Windebank, A. J., Ajmar, F., Schenone, A.
|
|
<strong>Congenital hypomyelination due to myelin protein zero Q215X mutation.</strong>
|
|
Ann. Neurol. 45: 676-678, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10319895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10319895</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10319895" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/1531-8249(199905)45:5<676::aid-ana21>3.0.co;2-k" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Marrosu1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Marrosu, M. G., Vaccargiu, S., Marrosu, G., Vannelli, A., Cianchetti, C., Muntoni, F.
|
|
<strong>Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.</strong>
|
|
Neurology 50: 1397-1401, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9595994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9595994</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9595994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.50.5.1397" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Martini1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Martini, R., Zielasek, J., Toyka, K. V., Giese, K. P., Schachner, M.
|
|
<strong>Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies.</strong>
|
|
Nature Genet. 11: 281-286, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581451</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7581451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng1195-281" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Mastaglia1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mastaglia, F. L., Nowak, K. J., Stell, R., Phillips, B. A., Edmondston, J. E., Dorosz, S. M., Wilton, S. D., Hallmayer, J., Kakulas, B. A., Laing, N. G.
|
|
<strong>Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 67: 174-179, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10406984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10406984</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10406984" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jnnp.67.2.174" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Misu2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Misu, K., Yoshihara, T., Shikama, Y., Awaki, E., Yamamoto, M., Hattori, N., Hirayama, M., Takegami, T., Nakashima, K., Sobue, G.
|
|
<strong>An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (thr124met or asp75val).</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 69: 806-811, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11080237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11080237</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11080237" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jnnp.69.6.806" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Nagy1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nagy, E., Maquat, L. E.
|
|
<strong>A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance.</strong>
|
|
Trends Biochem. Sci. 23: 198-199, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9644970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9644970</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9644970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0968-0004(98)01208-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Nakagawa1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nakagawa, M., Suehara, M., Saito, A., Takashima, H., Umehara, F., Saito, M., Kanzato, N., Matsuzaki, T., Takenaga, S., Sakoda, S., Izumo, S., Osame, M.
|
|
<strong>A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths.</strong>
|
|
Neurology 52: 1271-1275, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10214757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10214757</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10214757" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.52.6.1271" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Nelis1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nelis, E., Haites, N., Van Broeckhoven, C.
|
|
<strong>Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.</strong>
|
|
Hum. Mutat. 13: 11-28, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9888385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9888385</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9888385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Oakey1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Oakey, R. J., Watson, M. L., Seldin, M. F.
|
|
<strong>Construction of a physical map on mouse and human chromosome 1: comparison of 13 Mb of mouse and 11 Mb of human DNA.</strong>
|
|
Hum. Molec. Genet. 1: 613-620, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1301170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1301170</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1301170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/1.8.613" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Ouvrier1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ouvrier, R. A., McLeod, J. G., Conchin, T. E.
|
|
<strong>The hypertrophic forms of hereditary motor and sensory neuropathy: a study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood.</strong>
|
|
Brain 110: 121-148, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3467805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3467805</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3467805" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/brain/110.1.121" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Pham-Dinh1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pham-Dinh, D., Fourbil, Y., Blanquet, F., Mattei, M.-G., Roeckel, N., Latour, P., Chazot, G., Vandenberghe, A., Dautigny, A.
|
|
<strong>The major peripheral myelin protein zero gene: structure and localization in the cluster of Fc-gamma receptor genes on human chromosome 1q21.3-q23.</strong>
|
|
Hum. Molec. Genet. 2: 2051-2054, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7509228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7509228</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7509228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/2.12.2051" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Plante-Bordeneuve1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Plante-Bordeneuve, V., Guiochon-Mantel, A., Lacroix, C., Lapresle, J., Said, G.
|
|
<strong>The Roussy-Levy family: from the original description to the gene.</strong>
|
|
Ann. Neurol. 46: 770-773, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10553995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10553995</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10553995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/1531-8249(199911)46:5<770::aid-ana13>3.0.co;2-u" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="Roa1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Roa, B. B., Warner, L. E., Garcia, C. A., Russo, D., Lovelace, R., Chance, P. F., Lupski, J. R.
|
|
<strong>Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.</strong>
|
|
Hum. Mutat. 7: 36-45, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8664899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8664899</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8664899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<36::AID-HUMU5>3.0.CO;2-N" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Rouger1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rouger, H., LeGuern, E., Gouider, R., Tardieu, S., Birouk, N., Gugenheim, M., Bouche, P., Agid, Y., Brice, A.
|
|
<strong>High frequency of mutations in codon 98 of the peripheral myelin protein Po gene in 20 French CMT1 patients. (Letter)</strong>
|
|
Am. J. Hum. Genet. 58: 638-641, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644725</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="48" class="mim-anchor"></a>
|
|
<a id="Roussy1926" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Roussy, G., Levy, G.
|
|
<strong>Sept cas d'une maladie familiale particulaiere.</strong>
|
|
Rev. Neurol. 45: 427-450, 1926.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Sabet2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sabet, A., Li, J., Ghandour, K., Pu, Q., Wu, X., Kamholz, J., Shy, M. E., Cambi, F.
|
|
<strong>Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B.</strong>
|
|
Neurology 67: 1141-1146, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17030746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17030746</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17030746" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/01.wnl.0000238499.37764.b1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="50" class="mim-anchor"></a>
|
|
<a id="Schiavon1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schiavon, F., Rampazzo, A., Merlini, L., Angelini, C., Mostacciuolo, M. L.
|
|
<strong>Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.</strong>
|
|
Hum. Mutat. Suppl. 1: S217-S219, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9452091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9452091</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9452091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/humu.1380110170" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="51" class="mim-anchor"></a>
|
|
<a id="Seeman2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Seeman, P., Mazanec, R., Huehne, K., Suslikova, P., Keller, O., Rautenstrauss, B.
|
|
<strong>Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.</strong>
|
|
Neurology 63: 733-735, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15326256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15326256</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15326256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/01.wnl.0000134605.61307.de" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="52" class="mim-anchor"></a>
|
|
<a id="Senderek2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Senderek, J., Hermanns, B., Lehmann, U., Bergmann, C., Marx, G., Kabus, C., Timmerman, V., Stoltenburg-Didinger, G., Schroder, J. M.
|
|
<strong>Charcot-Marie-Tooth neuropathy type 2 and PO point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible 'hotspot' on Thr124Met.</strong>
|
|
Brain Path. 10: 235-248, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10764043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10764043</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10764043" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1750-3639.2000.tb00257.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="53" class="mim-anchor"></a>
|
|
<a id="Skre1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Skre, H.
|
|
<strong>Genetic and clinical aspects of Charcot-Marie-Tooth disease.</strong>
|
|
Clin. Genet. 6: 98-118, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4430158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4430158</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4430158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1974.tb00638.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="54" class="mim-anchor"></a>
|
|
<a id="Smit2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Smit, L. S., Roofthooft, D., van Ruissen, F., Baas, F., van Doorn, P. A.
|
|
<strong>Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family.</strong>
|
|
Neuromusc. Disord. 18: 59-62, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17825553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17825553</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17825553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.nmd.2007.07.011" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="55" class="mim-anchor"></a>
|
|
<a id="Sorour1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sorour, E., MacMillan, J., Upadhyaya, M.
|
|
<strong>Novel mutation of the myelin P0 gene in a CMT1B family.</strong>
|
|
Hum. Mutat. 9: 74-77, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8990016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8990016</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8990016" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<74::AID-HUMU16>3.0.CO;2-M" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="56" class="mim-anchor"></a>
|
|
<a id="Su1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Su, Y., Brooks, D. G., Li, L., Lepercq, J., Trofatter, J. A., Ravetch, J. V., Lebo, R. V.
|
|
<strong>Myelin protein zero gene mutated in Charcot-Marie-Tooth type 1B patients.</strong>
|
|
Proc. Nat. Acad. Sci. 90: 10856-10860, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504284</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504284" 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/10.1073/pnas.90.22.10856" target="_blank">Full Text</a>]
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<a id="57" class="mim-anchor"></a>
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<a id="Sutcliffe1987" class="mim-anchor"></a>
|
|
<div class="">
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Sutcliffe, J. G.
|
|
<strong>The genes for myelin.</strong>
|
|
Trends Genet. 3: 73-76, 1987.
|
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|
|
|
|
|
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|
</p>
|
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<a id="Szigeti2003" class="mim-anchor"></a>
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|
|
Szigeti, K., Saifi, G. M., Armstrong, D., Belmont, J. W., Miller, G., Lupski, J. R.
|
|
<strong>Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation.</strong>
|
|
Ann. Neurol. 54: 398-402, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12953275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12953275</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12953275" 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/ana.10681" target="_blank">Full Text</a>]
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<a id="59" class="mim-anchor"></a>
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<a id="Tachi1984" class="mim-anchor"></a>
|
|
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Tachi, N., Ishikawa, Y., Minami, R.
|
|
<strong>Two cases of congenital hypomyelination neuropathy.</strong>
|
|
Brain Dev. 6: 560-565, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6099985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6099985</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6099985" 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/s0387-7604(84)80101-1" target="_blank">Full Text</a>]
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<a id="Thomas1994" class="mim-anchor"></a>
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Thomas, F. P., Lebo, R. V., Rosoklija, G., Ding, X.-S., Lovelace, R. E., Latov, N., Hays, A. P.
|
|
<strong>Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome.</strong>
|
|
Acta Neuropath. 87: 91-97, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7511317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7511317</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7511317" 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/BF00386259" target="_blank">Full Text</a>]
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Triggs, W. J., Brown, R. H., Jr., Menkes, D. L.
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|
<strong>Case 18-2006: a 57-year-old woman with numbness and weakness of the feet and legs.</strong>
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|
New Eng. J. Med. 354: 2584-2592, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16775239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16775239</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16775239" 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/10.1056/NEJMcpc069009" target="_blank">Full Text</a>]
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Umehara, F., Takenaga, S., Nakagawa, M., Takahashi, K., Izumo, S., Matsumuro, K., Sakota, S., Nishimura, T., Yoshikawa, H., Osame, M.
|
|
<strong>Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex.</strong>
|
|
Acta Neuropath. 86: 602-608, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8310815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8310815</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8310815" 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/BF00294299" target="_blank">Full Text</a>]
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<a id="Warner1996" class="mim-anchor"></a>
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Warner, L. E., Hilz, M. J., Appel, S. H., Killian, J. M., Kolodny, E. H., Karpati, G., Carpenter, S., Watters, G. V., Wheeler, C., Witt, D., Bodell, A., Nelis, E., Van Broeckhoven, C., Lupski, J. R.
|
|
<strong>Clinical phenotypes of different MPZ(P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.</strong>
|
|
Neuron 17: 451-460, 1996.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8816708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8816708</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8816708" 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/s0896-6273(00)80177-4" target="_blank">Full Text</a>]
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Warner, L. E., Shohat, M., Shorer, Z., Lupski, J. R.
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<strong>Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.</strong>
|
|
Hum. Mutat. 10: 21-24, 1997.
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|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9222756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9222756</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9222756" 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/(SICI)1098-1004(1997)10:1<21::AID-HUMU3>3.0.CO;2-P" target="_blank">Full Text</a>]
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Watanabe, M., Yamamoto, N., Ohkoshi, N., Nagata, H., Kohno, Y., Hayashi, A., Tamaoka, A., Shoji, S.
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<strong>Corticosteroid-responsive asymmetric neuropathy with a myelin protein zero gene mutation.</strong>
|
|
Neurology 59: 767-769, 2002.
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12221176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12221176</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12221176" 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.59.5.767" target="_blank">Full Text</a>]
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Wrabetz, L., Feltri, M. L., Quattrini, A., Imperiale, D., Previtali, S., D'Antonio, M., Martini, R., Yin, X., Trapp, B. D., Zhou, L., Chiu, S.-Y., Messing, A.
|
|
<strong>P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves.</strong>
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J. Cell Biol. 148: 1021-1033, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10704451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10704451</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10704451[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10704451" 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/10.1083/jcb.148.5.1021" target="_blank">Full Text</a>]
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You, K.-H., Hsieh, C.-L., Hayes, C., Stahl, N., Francke, U., Popko, B.
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<strong>DNA sequence, genomic organization, and chromosomal localization of the mouse peripheral myelin protein zero gene: identification of polymorphic alleles.</strong>
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Genomics 9: 751-757, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1709914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1709914</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1709914" 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/10.1016/0888-7543(91)90370-t" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/20/2018
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 1/29/2013<br>Cassandra L. Kniffin - updated : 5/5/2010<br>Cassandra L. Kniffin - updated : 3/1/2010<br>Cassandra L. Kniffin - updated : 1/25/2010<br>Cassandra L. Kniffin - updated : 2/24/2009<br>Cassandra L. Kniffin - updated : 1/12/2009<br>Cassandra L. Kniffin - updated : 8/2/2007<br>Victor A. McKusick - updated : 7/5/2006<br>Victor A. McKusick - updated : 10/14/2005<br>Cassandra L. Kniffin - updated : 2/9/2005<br>Cassandra L. Kniffin - updated : 1/26/2005<br>Cassandra L. Kniffin - updated : 3/16/2004<br>Cassandra L. Kniffin - updated : 12/23/2003<br>Victor A. McKusick - updated : 10/13/2003<br>Cassandra L. Kniffin - updated : 5/27/2003<br>Cassandra L. Kniffin - reorganized : 5/12/2003<br>Cassandra L. Kniffin - updated : 5/12/2003<br>Cassandra L. Kniffin - updated : 5/8/2003<br>Victor A. McKusick - updated : 4/16/2002<br>Victor A. McKusick - updated : 1/24/2001<br>Victor A. McKusick - updated : 4/28/1999<br>Victor A. McKusick - updated : 1/12/1999<br>Victor A. McKusick - updated : 8/26/1997<br>Victor A. McKusick - updated : 2/28/1997
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Victor A. McKusick : 10/16/1986
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carol : 08/15/2024
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carol : 08/15/2024<br>alopez : 07/27/2023<br>carol : 04/18/2022<br>carol : 11/27/2018<br>ckniffin : 11/20/2018<br>carol : 03/09/2018<br>carol : 03/07/2018<br>carol : 12/13/2016<br>carol : 08/18/2016<br>joanna : 08/04/2015<br>carol : 2/20/2014<br>carol : 3/7/2013<br>ckniffin : 2/18/2013<br>alopez : 2/5/2013<br>ckniffin : 1/29/2013<br>wwang : 5/11/2010<br>ckniffin : 5/5/2010<br>wwang : 3/3/2010<br>ckniffin : 3/1/2010<br>wwang : 1/29/2010<br>ckniffin : 1/25/2010<br>wwang : 3/4/2009<br>ckniffin : 2/24/2009<br>wwang : 1/16/2009<br>ckniffin : 1/12/2009<br>wwang : 8/20/2007<br>ckniffin : 8/2/2007<br>alopez : 7/7/2006<br>terry : 7/5/2006<br>wwang : 4/19/2006<br>terry : 2/3/2006<br>wwang : 12/7/2005<br>alopez : 10/17/2005<br>terry : 10/14/2005<br>alopez : 7/14/2005<br>tkritzer : 2/11/2005<br>ckniffin : 2/9/2005<br>tkritzer : 2/2/2005<br>ckniffin : 1/26/2005<br>ckniffin : 1/25/2005<br>carol : 8/17/2004<br>alopez : 4/2/2004<br>tkritzer : 3/30/2004<br>ckniffin : 3/16/2004<br>tkritzer : 2/18/2004<br>ckniffin : 2/4/2004<br>tkritzer : 12/30/2003<br>ckniffin : 12/23/2003<br>carol : 12/12/2003<br>ckniffin : 12/11/2003<br>ckniffin : 12/8/2003<br>cwells : 11/7/2003<br>tkritzer : 10/14/2003<br>tkritzer : 10/13/2003<br>tkritzer : 6/9/2003<br>ckniffin : 5/29/2003<br>ckniffin : 5/27/2003<br>carol : 5/12/2003<br>ckniffin : 5/12/2003<br>carol : 5/12/2003<br>carol : 5/12/2003<br>ckniffin : 5/8/2003<br>ckniffin : 4/24/2003<br>terry : 4/16/2002<br>carol : 1/25/2001<br>terry : 1/24/2001<br>kayiaros : 7/12/1999<br>alopez : 5/10/1999<br>terry : 4/28/1999<br>carol : 1/14/1999<br>terry : 1/12/1999<br>mark : 3/2/1998<br>mark : 2/27/1998<br>jenny : 9/5/1997<br>terry : 8/26/1997<br>mark : 2/28/1997<br>terry : 2/26/1997<br>jamie : 12/18/1996<br>terry : 12/12/1996<br>terry : 12/4/1996<br>terry : 3/27/1996<br>mark : 3/21/1996<br>terry : 3/13/1996<br>mark : 3/10/1996<br>mark : 3/5/1996<br>terry : 3/5/1996<br>mark : 2/1/1996<br>mark : 1/24/1996<br>mark : 6/8/1995<br>pfoster : 10/3/1994<br>carol : 5/11/1994<br>carol : 12/9/1993<br>carol : 9/21/1993<br>carol : 9/14/1993
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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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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<strong>*</strong> 159440
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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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MYELIN PROTEIN ZERO; MPZ
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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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<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>
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<h4>
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<span class="mim-font">
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MYELIN GLYCOPROTEIN P-ZERO; P0<br />
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MYELIN PROTEIN, PERIPHERAL; MPP
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: MPZ</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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 42986003, 45853006, 717013009, 717014003, 765747004;
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<strong>ICD10CM:</strong> G60.0;
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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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<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: 1q23.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:161,303,600-161,309,968 </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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<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="7">
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<span class="mim-font">
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1q23.3
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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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Charcot-Marie-Tooth disease, dominant intermediate D
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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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607791
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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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Charcot-Marie-Tooth disease, type 1B
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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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118200
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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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Charcot-Marie-Tooth disease, type 2I
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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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607677
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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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Charcot-Marie-Tooth disease, type 2J
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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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607736
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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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Dejerine-Sottas disease
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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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145900
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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; Autosomal recessive
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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>
|
|
<span class="mim-font">
|
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Hypomyelinating neuropathy, congenital, 2
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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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618184
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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">
|
|
Roussy-Levy syndrome
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
180800
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
|
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">
|
|
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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<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>Myelin protein-zero is the major structural protein of peripheral myelin.</p>
|
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</span>
|
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<div>
|
|
<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>Hayasaka et al. (1991) isolated a full-length MPZ cDNA from a fetal spinal cord cDNA library. The deduced 248-amino acid protein was highly homologous to the P0 protein from other species. </p>
|
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</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Structure</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>Hayasaka et al. (1993) stated that the MPZ gene contains 6 exons. </p><p>You et al. (1991) found that the Mpz gene in the mouse, like that in the rat, contains 6 exons that span about 7 kb of genomic DNA. </p>
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</span>
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<div>
|
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<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</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>In connection with the construction of a physical map of human 1q21-q23, Oakey et al. (1992) assigned the human gene, which they symbolized MPP, to a position close to FCGR2A (146790) and APOA2 (107670). By spot-blot hybridization of flow-sorted chromosomes and by fluorescence in situ hybridization, Hayasaka et al. (1993) mapped the MPZ gene to 1q22-q23 in the region of the CMT1B locus (118200). Su et al. (1993) mapped the MPZ gene physically 130 kb centromeric to the Fc receptor immunoglobulin gene cluster in band 1q22. By in situ hybridization, Pham-Dinh et al. (1993) assigned the MPZ gene to 1q21.3-q23, probably 1q22, and also demonstrated that the MPZ gene and the FCGR2A gene are located on the same YAC fragment within about 130 kb of each other. </p><p>You et al. (1991) mapped the mouse Mpz gene to chromosome 1 by Southern analysis of a Chinese hamster/mouse somatic cell hybrid panel. Using polymorphic restriction enzyme sites in the study of recombinant inbred strains, they linked the gene to genes in a region corresponding to band 1H3. </p>
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|
</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</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>Myelin protein-zero is the major structural protein of peripheral myelin, accounting for more than 50% of the protein present in the sheath of peripheral nerves. Expression of the MPZ gene is restricted to Schwann cells; MPZ is not found in the CNS. An integral membrane glycoprotein of 28 kD, MPZ is thought to link adjacent lamellae and thereby stabilize the myelin assembly. The other 3 major components of myelin are myelin basic protein (MBP; 159430), myelin proteolipid protein (PLP1; 300401), and myelin-associated glycoprotein (MAG; 159460); see reviews of Lemke (1986) and Sutcliffe (1987).</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>Mutations in the MPZ gene are associated with the autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B; 118200), which is characterized by progressive slowing of nerve conduction and hypertrophy of Schwann cells. Mutations in MPZ can also produce the more severe polyneuropathies, Dejerine-Sottas syndrome (DSS; 145900) and congenital hypomyelinating neuropathy-2 (CHN2; 618184), as well as several types of axonal CMT2 (see, e.g., 607677) and a form of dominant intermediate CMT (CMTDID; 607791).</p><p>In 2 families with CMT1B, Hayasaka et al. (1993) identified mutations in the MPZ gene (159440.0001-159440.0002). Roa et al. (1996) surveyed 70 unrelated patients with demyelinating polyneuropathy for mutations in the MPZ gene. The 1.5-Mb DNA duplication on chromosome 17p12-p11.2 associated with Charcot-Marie-Tooth disease type 1A (118220) was not present. An ile135-to-thr substitution (159440.0007) in MPZ exon 3 was found in a family with clinically severe early-onset CMT1, and an exon 3 mutation encoding a gly137-to-ser (159440.0008) substitution was identified in a second CMT1 family. The mutations predicted amino acid substitutions in the extracellular domain of the MPZ protein. The observations confirmed the role of MPZ in CMT1B, but suggested to Roa et al. (1996) that MPZ coding region mutations account for only a limited percentage of disease-causing mutations in nonduplication CMT1 patients. </p><p>In 2 sibs with autosomal recessive DSS, Warner et al. (1996) identified homozygosity for a gly74 frameshift mutation in the MPZ gene (159440.0025). Ikegami et al. (1996) likewise observed the DSS phenotype with homozygosity for mutation in the MPZ gene. The findings are parallel to those found with homozygosity for the PMP22 gene (601097) in the cases reported by Killian and Kloepfer (1979), Lupski et al. (1991), and Kaku et al. (1993). The heterozygous parents presented with CMT1, whereas the homozygous children were more severely affected with DSS. These findings indicated the dosage sensitivity of the MPZ and PMP22 myelin genes and also supported the hypothesis that these clinical entities, CMT1 and DSS, represent variants of the same disease. </p><p>Marrosu et al. (1998) and Boerkoel et al. (2002) reported mutations in the MPZ gene (159440.0017 and 159440.0020) in patients with classic axonal CMT2 (CMT2I; 607677). Senderek et al. (2000) reported 2 MPZ point mutations in 2 families with classic axonal CMT2I with late onset. De Jonghe et al. (1999), Chapon et al. (1999), Misu et al. (2000), and Senderek et al. (2000) found that the thr124-to-met (T124M) mutation (159440.0016) was associated with a distinct CMT2 axonal phenotype with pupillary anomalies and deafness (CMTJ; 607736). Boerkoel et al. (2002) pointed that at least 6 mutations in the MPZ gene had been reported in patients with Charcot-Marie-Tooth disease type 2. </p><p>In affected members of a 4-generation Macedonian family with autosomal dominant hereditary motor and sensory neuropathy (HMSN) characterized by variable severity and motor nerve conduction velocities in the intermediate range (CMTDID; 607791), Mastaglia et al. (1999) identified a heterozygous mutation in the MPZ gene (159440.0018). </p><p>Nelis et al. (1999) tabulated 56 distinct mutations in the MPZ gene that had been identified in association with hereditary peripheral neuropathy. </p><p>Among 214 Italian patients with CMT, Mandich et al. (2009) identified mutations in the MPZ gene in 7 (7.9%) of 89 patients with demyelinating neuropathy and in 6 (4.8%) of 125 patients with axonal neuropathy. Phenotypic variability ranged from severe Dejerine-Sottas syndrome to adult-onset axonal neuropathy. </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>Cytogenetics</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>Maeda et al. (2012) reported a 3-generation Taiwanese family in which 6 individuals had classic autosomal dominant early-onset demyelinating CMT1B. Array comparative genomic hybridization of 13 known CMT genes identified increased dosage of MPZ that segregated with the phenotype. The 118-kb duplication included the entire MPZ gene as well as the flanking genes SDHC (602413) and C1ORF192; both breakpoints occurred within Alu sequences. MPZ mRNA levels were increased in patient lymphoblasts and sural nerves, and the gene dosage was estimated to be 5 copies. There was striking intrafamilial variability in the phenotype, with variation in nerve conduction velocities and age at onset. Copy number changes of the MPZ gene were not found in 192 control individuals. Maeda et al. (2012) noted that mice with overexpression of the MPZ gene developed a dysmyelinating neuropathy (Wrabetz et al., 2000). The findings indicated that overexpression of wildtype MPZ may disturb myelination during development, similar to that observed with duplication of PMP22 (601097.0001) and PLP1 (300401.0021). </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>Genotype/Phenotype Correlations</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>Mutations in the MPZ gene cause distinct neurologic diseases, including CHN, DSS, and CMT1B. Inoue et al. (2004) presented evidence suggesting that truncating mutations in the 5-prime end of the gene result in a milder clinical phenotype than those in the 3-prime end of the gene. Northern blot analysis showed that the mutations associated with the milder phenotype are located in an internal exon and result in a decrease in mutant mRNA compared to most mutations associated with severe disease that are located in the last exon, and are not followed by an intron, which results in a larger accumulation of mutant mRNA. The decrease in mutant mRNA occurs via the nonsense-mediated decay (NMD) pathway, which typically degrades only transcripts containing nonsense mutations that are followed by at least 1 intron (Carter et al., 1996; Nagy and Maquat, 1998). Accordingly, the mutations associated with the more severe phenotype may escape NMD and express large amounts of dominant-negative protein. Similar results were obtained for truncating mutations in the SOX10 gene (602229). Inoue et al. (2004) suggested that, in general, the NMD mechanism may function protectively to functionally convert dominant-negative effects to haploinsufficiency. </p><p>Most MPZ-truncating mutations associated with severe forms of peripheral neuropathy result in premature termination codons within the terminal or penultimate exons that are not subject to nonsense-mediated decay and are stably translated into mutant proteins with potential dominant-negative activity. However, some truncating mutations at the 3-prime end of MPZ escape the nonsense-mediated decay pathway and cause a mild peripheral neuropathy phenotype. Khajavi et al. (2005) examined the functional properties of MPZ-truncating proteins that escaped nonsense-mediated decay, and found that frameshift mutations associated with severe disease cause an intracellular accumulation of mutant proteins, primarily within the endoplasmic reticulum (ER), which induces apoptosis. They found that curcumin, a chemical compound derived from the curry spice turmeric, releases the ER-retained MPZ mutants into the cytoplasm accompanied by a lower number of apoptotic cells. The findings suggested that curcumin treatment is sufficient to relieve the toxic effect of mutant aggregation-induced apoptosis and has the potential of a therapeutic role in treating selected forms of inherited peripheral neuropathies. </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>Animal Model</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>Wrabetz et al. (2000) showed that normal peripheral nerve myelination depends on strict dosage of MPZ, the most abundantly expressed myelin gene. Transgenic mice containing extra copies of Mpz manifested a dose-dependent, dysmyelinating neuropathy, ranging from transient perinatal hypomyelination to arrested myelination and impaired sorting of axons by Schwann cells. Myelination was restored by breeding the transgene into the Mpz-null background, demonstrating that dysmyelination does not result from a structural alteration or Schwann cell-extrinsic effect of the transgenic P0-glycoprotein. The findings suggested that Schwann cells may be susceptible to gene dosage during nerve development. </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>ALLELIC VARIANTS</strong>
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</span>
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<strong>37 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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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>.0001 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</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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MPZ, LYS96GLU
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<br />
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SNP: rs121913583,
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ClinVar: RCV000015229, RCV000789440, RCV000812845
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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>Charcot-Marie-Tooth disease type 1B (CMT1B; 118200), which is associated with greatly reduced nerve conduction velocity, was mapped to 1q21.3-q23 by family linkage studies and by deletion mapping. Mapping of the MPZ gene to the same region suggested that it might be the site of the causative mutations. Hayasaka et al. (1993) proved this to be the case by the demonstration of separate mutations in 2 families with CMT1B: a lys96-to-glu mutation and an asp90-to-glu mutation (159440.0002). Both were located in the extracellular domain, which plays a significant role in myelin membrane adhesion. </p><p>Su et al. (1993) found the lys96-to-glu mutation in all of 18 affected members of the largest known Duffy-linked CMT1B family. The mutation occurred in a region of the MPZ protein conserved identically in human, rat, and cow since these species diverged. </p><p>Thomas et al. (1994) demonstrated by sural nerve biopsies from a father and son in this family that the changes were typical of tomaculous neuropathy with loss of myelinated fibers and frequent small onion bulbs. The resemblance of tomacula to myelin folding and loops during early development may reflect immature or abnormal axon-myelin interaction. Tomaculous neuropathy is characteristic particularly of hereditary neuropathy with liability to pressure palsies (162500), which has been shown to result from deletion of the gene for peripheral myelin protein-22; PMP22 is duplicated or the site of point mutations in Charcot-Marie-Tooth disease type 1A. </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>.0002 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</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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MPZ, ASP90GLU
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<br />
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SNP: rs121913584,
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gnomAD: rs121913584,
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ClinVar: RCV000015230, RCV000704216, RCV000789441
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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 affected members of a family segregating Charcot-Marie-Tooth disease type 1B (CMT1B; 118200), Hayasaka et al. (1993) identified an asp90-to-glu mutation in the MPZ gene. The mutation was located in the extracellular domain, which plays a significant role in myelin membrane adhesion. </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>.0003 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</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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MPZ, 3-BP DEL, SER34DEL
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<br />
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SNP: rs879254109,
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ClinVar: RCV000015231, RCV000235309, RCV000535237, RCV000790083
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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>Kulkens et al. (1993) showed that all affected members of a family with type 1B Charcot-Marie-Tooth disease (CMT1B; 118200) had a 3-bp deletion in exon 2 causing loss of the serine-34 codon. This residue is located in the extracellular domain of P0. </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>.0004 DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT</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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MPZ, SER63CYS
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<br />
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SNP: rs121913585,
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ClinVar: RCV000015232, RCV000390750, RCV000789439, RCV000803240
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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>Hayasaka et al. (1993) found a mutation of the MPZ gene in a 7-year-old boy with delayed motor development, hypotonia, muscle weakness, and sensory disturbance thought to be typical of Dejerine-Sottas syndrome (145900), or hereditary motor and sensory neuropathy type III (HMSN3). The patient was case 1 of Tachi et al. (1984). Cysteine was substituted for serine-63 in the extracellular domain. The patient was heterozygous for the mutation, which was absent in the parents and in 100 unrelated healthy 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">
|
|
<strong>.0005 DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT</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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MPZ, GLY167ARG
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<br />
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SNP: rs121913586,
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ClinVar: RCV000015233, RCV000032123, RCV000198029, RCV001851867
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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>Hayasaka et al. (1993) identified a gly167-to-arg mutation in the transmembrane domain of MPZ in case 20 of Ouvrier et al. (1987); the patient was thought to have typical Dejerine-Sottas syndrome (145900) except that his spinal fluid protein level was not elevated. The patient was heterozygous for the mutation, which was absent in the parents and in 100 unrelated healthy 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>
|
|
<span class="mim-font">
|
|
<strong>.0006 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</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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|
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MPZ, THR216GLU-ARG
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<br />
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SNP: rs2102257349,
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ClinVar: RCV000015234
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In all of 3 tested affected patients in a family with Charcot-Marie-Tooth disease type 1B (CMT1B; 118200), Su et al. (1993) found 5 nucleotide substitutions in the MPZ gene. These mutations disrupted the splice site between intron 5 and exon 6 and may have created a new splice site 3 bases earlier. The new putative splice site would replace a neutral threonine with a positively charged arginine and a negatively charged glutamic acid. This major charge change would be expected to interfere with serine phosphorylation 6 amino acids upstream. This mutant 9-bp sequence is identical to a mouse intron 1 sequence. Thus, a recombination between the homologous human MPZ intron 1 and the MPZ intron 5 splice acceptor site could have generated this CMT1B allele. The mutation was referred to as T216ER. </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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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</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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|
|
MPZ, ILE135THR
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|
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<br />
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|
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SNP: rs121913587,
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|
|
ClinVar: RCV000015235, RCV000425572, RCV001807729, RCV005089261
|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Roa et al. (1996) identified an ile135-to-thr mutation in a Charcot-Marie-Tooth disease type 1B (CMT1B; 118200) family of Spanish descent with at least 3 generations of affected family members and male-to-male transmission. The proband was diagnosed with CMT disease at 22 years of age. Episodes of cramps in the legs and arms were subsequently documented. Neuroconduction studies showed no response on stimulation of sensory nerves and severely reduced motor neuron conduction velocities were observed. The patient had been wheelchair-bound since age 37 years. </p>
|
|
</span>
|
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</div>
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<div>
|
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<br />
|
|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
MPZ, GLY137SER
|
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|
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<br />
|
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|
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SNP: rs121913588,
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|
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ClinVar: RCV000015236, RCV000462311, RCV000712317
|
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|
|
|
</span>
|
|
</div>
|
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Roa et al. (1996) identified a gly137-to-ser mutation in a father and daughter with Charcot-Marie-Tooth disease type 1B (CMT1B; 118200). The grandparents were unaffected. The father had not walked until age 2 years. At the age of 12 he showed a slapping gait, severe atrophy of leg muscles, pes cavus, and hammertoes. He also had weakness and wasting of intrinsic hand muscles and absent stretch reflexes in all 4 limbs. There were no visibly enlarged or palpable peripheral nerves. Sensory nerve conduction studies on the left sural nerve elicited no response upon stimulation. The patient's 4-year-old daughter walked at 21 months of age, had flat feet, walked on her toes, and had muscle weakness. Neurologic examination showed absence of stretch reflexes and no enlargement of peripheral nerves. </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>.0009 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
MPZ, ARG98PRO
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|
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<br />
|
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|
|
SNP: rs121913589,
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|
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|
|
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|
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ClinVar: RCV000015237, RCV000638160, RCV000790115, RCV001811142, RCV002433456
|
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|
|
|
|
</span>
|
|
</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Among 20 unrelated French Charcot-Marie-Tooth disease type 1B (CMT1B; 118200) patients without 17p11.2 duplications, Rouger et al. (1996) found 3 different mutations at codon 98. No other mutation in exon 3 of the MPZ gene was detected. The mutation was demonstrated to be de novo in 1 of the cases and suspected of being de novo in the other 2, suggesting that mutations occur with a high rate at codon 98. In 1 patient an arg98-to-pro (R98P) mutation was caused by a 293G-C transversion, whereas in another patient an arg98-to-cys substitution (R98C; 159440.0010) was caused by a 292C-T transition. The third mutation was a 293G-A transition, resulting in an arg98-to-his substitution (R98H; 159440.0011). Rouger et al. (1996) noted that this mutation had previously been reported in a Japanese family by Hayasaka et al. (1993). The patient with the R98C mutation showed a more severe clinical and electrophysiologic phenotype than the others with a codon 98 mutation, partly compatible with Dejerine-Sottas syndrome with very early onset (1 year), and a very low nerve conduction velocity, but only mild functional disability at age 8 years. All 3 mutations in codon 98 implied a C-to-T transition (1 on the sense and 2 on the antisense strand), suggesting that they may result from the deamination of a methylcytosine to a thymine. The authors stated that this could explain the high rate of mutations on codon 98. The R98H mutation, characterized by direct sequencing in 2 cases, was not detected by the SSCP technique. Since SSCP analysis was used as the initial screening technique in most previous studies, the frequency of mutations at codon 98 may have been underestimated. The 3 codon 98 mutations represented 20% of the CMT1 patients without duplications and probably a much higher proportion of those with MPZ mutations. These mutations can be picked up by CfoI restriction of exon 3 of the MPZ gene; this approach should be the first step in screening CMT1 patients without duplications. </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>.0010 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</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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MPZ, ARG98CYS
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|
|
<br />
|
|
|
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SNP: rs121913590,
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ClinVar: RCV000015238, RCV000237048, RCV000548074
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Among 20 unrelated French Charcot-Marie-Tooth disease type 1B (CMT1B; 118200) patients without 17p11.2 duplications, Rouger et al. (1996) found 3 different mutations at codon 98. No other mutation in exon 3 of the MPZ gene was detected. The mutation was demonstrated to be de novo in 1 of the cases and suspected of being de novo in the other 2, suggesting that mutations occur with a high rate at codon 98. In 1 patient an arg98-to-pro (R98P; 159440.0009) mutation was caused by a 293G-C transversion, whereas in another patient an arg98-to-cys substitution (R98C) was caused by a 292C-T transition. The third mutation was a 293G-A transition, resulting in an arg98-to-his substitution (R98H; 159440.0011). Rouger et al. (1996) noted that this mutation had previously been reported in a Japanese family by Hayasaka et al. (1993). The patient with the R98C mutation showed a more severe clinical and electrophysiologic phenotype than the others with a codon 98 mutation, partly compatible with Dejerine-Sottas syndrome with very early onset (1 year), and a very low nerve conduction velocity, but only mild functional disability at age 8 years. All 3 mutations in codon 98 implied a C-to-T transition (1 on the sense and 2 on the antisense strand), suggesting that they may result from the deamination of a methylcytosine to a thymine. The authors stated that this could explain the high rate of mutations on codon 98. The R98H mutation, characterized by direct sequencing in 2 cases, was not detected by the SSCP technique. Since SSCP analysis was used as the initial screening technique in most previous studies, the frequency of mutations at codon 98 may have been underestimated. The 3 codon 98 mutations represented 20% of the CMT1 patients without duplications and probably a much higher proportion of those with MPZ mutations. These mutations can be picked up by CfoI restriction of exon 3 of the MPZ gene; this approach should be the first step in screening CMT1 patients without duplications. </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>.0011 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</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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MPZ, ARG98HIS
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<br />
|
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SNP: rs121913589,
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ClinVar: RCV000015239, RCV000196172, RCV000376287, RCV000415463, RCV001173692, RCV002433457, RCV004528112
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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>Among 20 unrelated French Charcot-Marie-Tooth disease type 1B (CMT1B; 118200) patients without 17p11.2 duplications, Rouger et al. (1996) found 3 different mutations at codon 98. No other mutation in exon 3 of the MPZ gene was detected. The mutation was demonstrated to be de novo in 1 of the cases and suspected of being de novo in the other 2, suggesting that mutations occur with a high rate at codon 98. In 1 patient an arg98-to-pro (R98P; 159440.0009) mutation was caused by a 293G-C transversion, whereas in another patient an arg98-to-cys substitution (R98C; 159440.0010) was caused by a 292C-T transition. The third mutation was a 293G-A transition, resulting in an arg98-to-his substitution. Rouger et al. (1996) noted that this mutation had previously been reported in a Japanese family by Hayasaka et al. (1993). The patient with the R98C mutation showed a more severe clinical and electrophysiologic phenotype than the others with a codon 98 mutation, partly compatible with Dejerine-Sottas syndrome with very early onset (1 year), and a very low nerve conduction velocity, but only mild functional disability at age 8 years. All 3 mutations in codon 98 implied a C-to-T transition (1 on the sense and 2 on the antisense strand), suggesting that they may result from the deamination of a methylcytosine to a thymine. The authors stated that this could explain the high rate of mutations on codon 98. The R98H mutation, characterized by direct sequencing in 2 cases, was not detected by the SSCP technique. Since SSCP analysis was used as the initial screening technique in most previous studies, the frequency of mutations at codon 98 may have been underestimated. The 3 codon 98 mutations represented 20% of the CMT1 patients without duplications and probably a much higher proportion of those with MPZ mutations. These mutations can be picked up by CfoI restriction of exon 3 of the MPZ gene; this approach should be the first step in screening CMT1 patients without duplications. </p><p>Watanabe et al. (2002) reported partial symptom relief with corticosteroid treatment in a patient with demyelinating CMT1B and a heterozygous R98H mutation in the MPZ gene. Although this response is rare in such patients, Watanabe et al. (2002) hypothesized that poor myelin compaction by the MPZ protein, caused by the mutation, may have allowed circulating immune elements access to normally sequestered endoneurial components, thus accounting for the response to corticosteroid treatment. </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>.0012 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</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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MPZ, SER63PHE
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<br />
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SNP: rs121913585,
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ClinVar: RCV000015240, RCV001173697, RCV001224917
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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 54-year-old mother and her 22-year-old daughter, Blanquet-Grossard et al. (1995) found that type 1B Charcot-Marie-Tooth disease (CMT1B; 118200) was associated with a ser63-to-phe mutation. This was the third mutation to be described at this codon; a ser63-to-del mutation (159440.0003) led to CMT1B. </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 NEUROPATHY, CONGENITAL HYPOMYELINATING, 2</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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MPZ, GLN215TER
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<br />
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SNP: rs121913593,
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ClinVar: RCV000015241
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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 patient (patient 987) with congenital hypomyelination-2 (CHN2; 618184), Warner et al. (1996) identified a de novo heterozygous 643C-T transition in exon 5 of the MPZ gene, resulting in a gln186-to-ter (GLN186TER; Q186X) substitution. </p><p>Mandich et al. (1999) identified the same de novo heterozygous nonsense mutation, referred to as a c.643C-T transition resulting in a gln215-to-ter (Q215X) substitution, in an unrelated patient with CHN2. </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 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</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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MPZ, HIS81ARG
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<br />
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SNP: rs121913594,
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ClinVar: RCV000015242, RCV000518134, RCV000789479, RCV001385507, RCV004795414
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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 in South Wales in which 13 members were affected by Charcot-Marie-Tooth disease type 1B (CMT1B; 118200), Sorour et al. (1997) found a 242A-G transition in exon 3 of the MPZ gene, resulting in a his81-to-arg substitution. The family was unusual in that several members had severe distal lower limb weakness and foot deformities from early childhood, including 3 born with clubfoot. One had undergone bilateral below-knee amputations for severe foot deformities. All affected individuals had distal muscle weakness and wasting of upper and lower limbs, tendon stretch hypo/areflexia, and distal sensory impairment. The median nerve motor conduction velocity of affected family members was 11.1 m/s and median sensory nerve action potentials (SNAPs) were consistently absent. The disorder in this family was significantly more severe than in other families with HMSN type I in this study. </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 DEJERINE-SOTTAS SYNDROME, SPORADIC</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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MPZ, ILE85THR, ASN87HIS, ASP99ASN
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<br />
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SNP: rs267607241, rs267607242, rs267607243,
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ClinVar: RCV000015243, RCV000541724, RCV000789491, RCV000789492, RCV000790098, RCV000813380, RCV001508018
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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 sporadic case of Dejerine-Sottas syndrome (DSS; 145900), Warner et al. (1997) identified 3 de novo point mutations in exon 3 of the MPZ gene. The point mutations occurred on the same allele and resulted in 3 amino acid substitutions: ile85 to thr, asn87 to his, and asp99 to asn. They were all novel mutations; therefore, it was difficult to predict what the phenotype of these mutations would be individually. The mechanism by which they produced a severe phenotype was also unclear. None of the mutations occurred at a CpG dinucleotide and there were no known similar sequences to participate in a gene conversion event. The spacing between the mutations (5 bp and 36 bp) suggested the occurrence of sequence alterations on different faces of the double helix, which may be less likely to result from a single contact by an interacting exogenous chemical mutagen. The patient was the offspring of a 36-year-old mother and a 46-year-old father. He was noted at 9 weeks of age to have moderate to severe hypotonia and weak tendon reflexes. At 2 years, he showed delay in motor development. He sat without support and could stand with assistance, but could not walk. He appeared to be advanced in mental development. Motor nerve conduction velocities at 1 year of age were markedly delayed with significantly low amplitude. There was no response from the medial plantar and sural nerves on sensory nerve conduction tests. Nerve biopsy showed variation in fiber size with reduced number of axons, hypomyelination, and sporadic onion bulb formation. </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>.0016 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J</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">
|
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, INCLUDED
|
|
</span>
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</div>
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<div>
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<span class="mim-text-font">
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MPZ, THR124MET
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<br />
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SNP: rs121913595,
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ClinVar: RCV000015244, RCV000015245, RCV000192248, RCV000517355, RCV000638155, RCV000763262, RCV001262744, RCV002245981, RCV002345245
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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 man with Charcot-Marie-Tooth disease type 1B (CMT1B; 118200), Schiavon et al. (1998) identified a 371C-T transition in exon 3 of the MPZ gene, resulting in a thr124-to-met (T124M) substitution. The patient had a relatively mild clinical course, with onset of generalized asthenia at age 42 years and a slightly decreased motor NCV of 37 m/s. </p><p>In 7 Charcot-Marie-Tooth families and in 2 isolated CMT patients of Belgian ancestry, De Jonghe et al. (1999) found the T124M mutation. Allele-sharing analysis of markers flanking the MPZ gene indicated that all patients with the T124M mutation had 1 common ancestor. The mutation was associated with a clinically distinct phenotype characterized by axonal involvement, late onset, marked sensory abnormalities, and, in some families, deafness and pupillary abnormalities (CMT2J; 607736). Nerve conduction velocities of the motor median nerve varied from less than 38 m/s to normal values in these patients. Clusters of remyelinating axons in the sural nerve biopsy demonstrated an axonal involvement, with axonal regeneration. Phenotype/genotype correlations in 30 patients with the mutation indicated that, based on nerve conduction velocity criteria, these patients were difficult to classify as CMT1 or CMT2. De Jonghe et al. (1999) concluded that CMT patients with slightly reduced or nearly normal nerve conduction velocity should be screened for MPZ mutations, particularly when additional clinical features such as marked sensory disturbances, pupillary abnormalities, or deafness are also present. </p><p>Chapon et al. (1999) and Misu et al. (2000) likewise found a distinct CMT type 2 axonal phenotype with pupillary anomalies, deafness, and sensory abnormalities associated with the T124M mutation. </p><p>Senderek et al. (2000) suggested that T124M reflects a mutation hotspot. </p><p>Baloh et al. (2004) reported a family in which multiple members spanning 3 generations had severe chronic recurring coughing spasms, beginning in their teens and lasting for 20 to 30 minutes and ending in retching or vomiting. All affected members had tonic pupils and most developed late-onset axonal peripheral neuropathy. The features resembled CMT with hearing loss and pupillary abnormalities reported by De Jonghe et al. (1999) and Misu et al. (2000), but hearing loss was not a feature in this family. The proband also reported gastrointestinal symptoms diagnosed as irritable bowel syndrome, occasional urinary incontinence, and erectile dysfunction. The proband and his affected sister and mother were heterozygous for the T124M mutation; 4 unaffected family members tested did not have the mutation. Baloh et al. (2004) concluded that the T124M mutation results in dysfunction of the autonomic nervous system. </p><p>Triggs et al. (2006) described a family with the characteristic features of CMT2J and the T124M mutation. </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>.0017 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I</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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|
MPZ, ILE89ASN, VAL92MET, ILE162MET
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<br />
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|
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SNP: rs267607244, rs267607245, rs267607246,
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|
|
gnomAD: rs267607244,
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|
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ClinVar: RCV000015246, RCV000519851, RCV000521368, RCV001308866, RCV001323340, RCV001339130
|
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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 patient with a classic CMT2 phenotype (CMT2I; 607677), Boerkoel et al. (2002) found heterozygosity for 3 missense mutations in the MPZ gene: ile89-to-asn, val92-to-met, and ile162-to-met. The first 2 mutant amino acids are in the extracellular domain of the P0 protein; ile162-to-met is in the transmembrane domain. Boerkoel et al. (2002) pointed to another report of a patient with 3 MPZ mutations (Warner et al., 1997); see 159440.0015. </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>.0018 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D</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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|
MPZ, ASP6TYR
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<br />
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SNP: rs121913596,
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gnomAD: rs121913596,
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ClinVar: RCV000015247, RCV000638171, RCV001173698, RCV001552371
|
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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>Mastaglia et al. (1999) reported a 4-generation Macedonian family with autosomal dominant hereditary motor and sensory neuropathy (HMSN) characterized by variable severity and motor nerve conduction velocities in the intermediate range (CMTDID; 607791). Affected members displayed a symmetric pattern of distal muscle atrophy, weakness, and sensory impairment in the lower limbs and to a lesser extent in the upper limbs. Motor NCVs ranged from 24-41 m/s for the median nerve and from 33-48 m/s for the ulnar nerve. Nerve biopsy of 2 patients showed primarily axonal degeneration, but also areas of segmental demyelination and remyelination without onion bulb formation. All affected members had a heterozygous G-to-T transversion in the MPZ gene, resulting in an asp6-to-tyr (D6Y) substitution in the extracellular domain of the protein. Mastaglia et al. (1999) called the disorder in this family an 'intermediate' form of HMSN between types 1 and 2. </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>.0019 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J</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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|
|
MPZ, ASP75VAL
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<br />
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SNP: rs121913597,
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ClinVar: RCV000015248, RCV000190346, RCV001070451
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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 3 unrelated patients with axonal CMT2 with pupillary abnormalities and deafness (CMT2J; 607736), Misu et al. (2000) identified an A-to-T change in exon 2 of the MPZ gene, resulting in an asp75-to-val (D75V) substitution. Age of onset was relatively late (37 to 61 years) and the presenting symptom was paresthesia in the distal legs. There was also distal leg weakness and atrophy and distal sensory impairment. Two patients had pupillary abnormalities, and 1 also had deafness. NCVs were consistent with axonal neuropathy. The authors noted that the distinctive phenotype, with pupillary abnormalities and deafness, was similar to that reported in some patients with the T124M mutation (159440.0016). </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 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I</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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MPZ, SER44PHE
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<br />
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SNP: rs121913598,
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ClinVar: RCV000015249, RCV000190345, RCV000638152, RCV000790099, RCV001093014, RCV002381251
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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 Sardinian family with a classic CMT2 phenotype (CMT2I; 607677), Marrosu et al. (1998) identified a heterozygous mutation in exon 2 of the MPZ gene, resulting in a ser44-to-phe (S44F) substitution. </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 ROUSSY-LEVY SYNDROME</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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MPZ, ASN131LYS
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<br />
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SNP: rs121913599,
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ClinVar: RCV000015250, RCV000192587, RCV000517209, RCV001060346
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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 3 individuals with Roussy-Levy syndrome (180800) from the original family described by Roussy and Levy (1926), Plante-Bordeneuve et al. (1999) identified a heterozygous 727C-A transition in exon 3 of the MPZ gene, resulting in an asn131-to-lys (N131K) substitution in the extracellular domain of the protein. The authors concluded that the Roussy-Levy family falls into the CMT1B (118200) subgroup of the hereditary demyelinating polyneuropathies. </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>
|
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<span class="mim-font">
|
|
<strong>.0022 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</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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MPZ, GLY74GLU
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<br />
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SNP: rs121913600,
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|
ClinVar: RCV000015251, RCV000536804, RCV001818160, RCV002321483
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|
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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 2 sisters with a severe early-onset form of demyelinating Charcot-Marie-Tooth disease type 1B (CMT1B; 118200), Fabrizi et al. (2001) identified a heterozygous 308G-A change in exon 3 of the MPZ gene, resulting in a gly74-to-glu (G74E) substitution. Because both parents were asymptomatic, the disorder at first appeared to be autosomal recessive. However, molecular analysis showed that the mother was a mosaic for the mutation in somatic cells and presumably in germline cells, thus confirming autosomal dominant inheritance. </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>.0023 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS</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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MPZ, SER49LEU
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<br />
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SNP: rs121913601,
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ClinVar: RCV000015252, RCV000436362, RCV000546842, RCV001173691
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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 2 pedigrees with a late-onset, relatively mild form of Charcot-Marie-Tooth disease 1B with focally folded myelin sheaths (CMT1B; 118200), Fabrizi et al. (2000) identified a heterozygous 233C-T transition in exon 2 of the MPZ gene, resulting in a ser49-to-leu (S49L) substitution in the extracellular domain of the protein. Pathology showed a characteristic demyelinating process, but also revealed irregular myelin outfoldings and infoldings and tomacula. Fabrizi et al. (2000) noted that the mutation exchanges a polar amino acid with a hydrophobic amino acid, and suggested that the change would result in myelin uncompaction which could lead to out- or infoldings. The authors also noted that myelin outfoldings have been described in other CMT patients with mutations in MPZ, EGR2 (129010.0004), and PMP22 (601097.0016), and that the finding is not restricted to CMT4B (see CMT4B1; 601382). </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>.0024 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS</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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|
MPZ, ILE62PHE
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<br />
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|
|
SNP: rs121913602,
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|
ClinVar: RCV000015253
|
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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 Charcot-Marie-Tooth disease 1B with focally folded myelin sheaths (CMT1B; 118200) first reported by Umehara et al. (1993), Nakagawa et al. (1999) identified a heterozygous 184A-T transversion in exon 2 of the MPZ gene, resulting in an ile62-to-phe (I62F) substitution. </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>.0025 DEJERINE-SOTTAS SYNDROME, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
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|
MPZ, 1-BP DEL
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|
<br />
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|
|
SNP: rs281865125,
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|
|
|
|
ClinVar: RCV000033916, RCV000789496, RCV001705641, RCV001852684, RCV002277116
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
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|
<span class="mim-text-font">
|
|
<p>In 2 sibs with autosomal recessive Dejerine-Sottas syndrome (DSS; 145900), Warner et al. (1996) identified homozygosity for a gly74 frameshift mutation in the MPZ gene. The mutation, a 1-bp deletion, led to premature termination that predicted a truncated protein of only 87 amino acids. This truncated protein was presumably degraded and never reached the membrane. Therefore, this mutation probably constituted a loss-of-function allele. The consanguineous parents, who were heterozygous for the 1-bp deletion, had a mild neuropathy with features of CMT1B. The children presented with the phenotype of Dejerine-Sottas syndrome which behaved as a recessive trait in this family, as compared to the dominant inheritance in other families (e.g., 159440.0004). This phenotypic variation between the heterozygous and the homozygous state closely resembled that seen in Mpz knockout mice (Martini et al., 1995). </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>.0026 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</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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|
|
|
MPZ, TYR145SER
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|
<br />
|
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SNP: rs121913603,
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|
|
|
gnomAD: rs121913603,
|
|
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ClinVar: RCV000015255, RCV000234112, RCV000235936, RCV000763260, RCV004528113
|
|
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|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a Costa Rican family with Charcot-Marie-Tooth disease (CMT1B; 118200), Leal et al. (2003) identified a tyr145-to-ser (Y145S) mutation in the MPZ gene. Four affected members were heterozygous for the mutation; 2 offspring of 2 heterozygous carrier parents were homozygous for the mutation. On neurologic examination, the heterozygous parents and their homozygous children all showed distal sensory deficits. The mother and the offspring displayed impaired deep tendon reflexes and mild sensory ataxia. The homozygous individuals were more severely affected with an earlier age at onset, distal motor weakness, and pupillary abnormalities. Electrophysiologic studies revealed signs of demyelination and axonal nerve degeneration. The sural nerve biopsy of 1 offspring showed thinly myelinated nerve fibers, onion bulb formation, and clusters of regenerating fibers. </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>.0027 NEUROPATHY, CONGENITAL HYPOMYELINATING, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MPZ, 3-BP DEL/1-BP INS, NT550
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1571818007,
|
|
|
|
|
|
|
|
ClinVar: RCV000789489, RCV002279942
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with congenital hypomyelinating neuropathy-2 (CHN2; 618184), Szigeti et al. (2003) identified a heterozygous 3-bp deletion (550delCTA) and a 1-bp insertion (550insG) in the MPZ gene, predicted to result in a protein in which the last 65 amino acids are replaced with a 49-amino acid novel sequence. The authors noted that the mutation may result in decreased adhesion capacity of the protein. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
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|
<br />
|
|
</div>
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|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0028 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
MPZ, ASP60HIS
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs121913604,
|
|
|
|
|
|
|
|
ClinVar: RCV000015257, RCV002226649, RCV002514101
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 affected members of a family with very late onset axonal Charcot-Marie-Tooth disease (CMT2I; 607677), Auer-Grumbach et al. (2003) identified a 178G-C transversion in exon 2 of the MPZ gene, resulting in an asp60-to-his (D60H) substitution, which they incorrectly reported as ASN60HIS. Kamholz and Shy (2004) reported the correct mutation as D60H. The patients had onset of symptomatic disease, primarily gait abnormalities, at the ages of 70, 60, 68, and 70 years. The phenotype was consistent with axonal CMT with prominent sensory involvement. Five asymptomatic family members with the mutation were younger than 57 years. The authors noted that patients with very late onset may appear to have an acquired neuropathy. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0029 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MPZ, ILE62MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913605,
|
|
|
|
|
|
gnomAD: rs121913605,
|
|
|
|
|
|
ClinVar: RCV000015258, RCV000799870, RCV001196641, RCV003318543, RCV003736538
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with late-onset axonal Charcot-Marie-Tooth disease (CMT2I; 607677), Auer-Grumbach et al. (2003) identified a 186C-G transversion in the MPZ gene, resulting in an ile62-to-met (I62M) substitution. The patient first noted weakness and reduced sensation in the toes at age 65 years. The disorder was progressive within the next few years, leading to marked disability. The authors noted that patients with late onset may appear to have an acquired neuropathy. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0030 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MPZ, GLU97VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913606,
|
|
|
|
|
|
|
|
ClinVar: RCV000015259, RCV001851868
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 affected members spanning 3 generations of a Czech family with Charcot-Marie-Tooth disease type 2J (CMT2J; 607736), Seeman et al. (2004) identified a heterozygous 290A-T transversion in exon 3 of the MPZ gene, resulting in a glu97-to-val (E97V) substitution. The mutation was not identified in 100 control chromosomes. Seeman et al. (2004) noted that sensorineural hearing loss and slowed pupillary reactions occurred at least 10 years before the onset of distal muscle weakness. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0031 NEUROPATHY, CONGENITAL HYPOMYELINATING, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MPZ, THR124LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913595,
|
|
|
|
|
|
|
|
ClinVar: RCV000015260
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Polish patient with congenital hypomyelinating neuropathy-2 (CHN2; 618184), Kochanski et al. (2004) identified a de novo heterozygous 704C-A transversion in exon 3 of the MPZ gene, resulting in a thr124-to-lys (T124K) substitution. The patient had a severe disease course, becoming wheelchair-bound by age 12 years. The authors noted that another mutation at the same codon, T124M (159440.0016), had been identified in patients with axonal forms of CMT. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0032 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MPZ, IVS4DS, T-G, +2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs879254054,
|
|
|
|
|
|
|
|
ClinVar: RCV000015261, RCV000235519, RCV000790116, RCV005090191
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with Charcot-Marie-Tooth disease 1B (CMT1B; 118200), Sabet et al. (2006) identified a heterozygous T-to-G transversion at the +2 position of intron 4 of the MPZ gene. The mutation was predicted to alter the conserved splice site and result in the skipping of exon 4. The phenotype was a late-onset, relatively mild, and slowly progressive lower limb neuropathy. RT-PCR analysis of skin biopsies from the proband showed that the mutant protein lacked the transmembrane domain encoded by exon 4. Quantitative immunoelectron microscopy demonstrated normal levels of MPZ within the myelin, indicating that the mutant protein had been transported to compact myelin. Sabet et al. (2006) postulated a dominant-negative or gain-of-function effect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0033 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MPZ, GLY123SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913608,
|
|
|
|
|
|
|
|
ClinVar: RCV000015262, RCV000790090
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In multiple affected members of a Chinese family with Charcot-Marie-Tooth disease type 1B (CMT1B; 118200), Lee et al. (2008) identified a heterozygous 367G-A transition in the MPZ gene, resulting in a gly123-to-ser (G123S) substitution in the extracellular domain of the protein. In vitro functional expression studies found that most of the mutant protein was localized in the cytosol and associated with the endoplasmic reticulum or Golgi apparatus, with very little protein on the plasma membrane. Cultured cells carrying the mutation showed decreased adhesiveness compared to cells with wildtype MPZ, and sural nerve biopsy revealed severe loss of myelinated fibers. Lee et al. (2008) hypothesized that the mutation resulted in defective adhesion, which could compromise myelin compaction and result in peripheral demyelination. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0034 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
MPZ, PRO105THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913609,
|
|
|
|
|
|
|
|
ClinVar: RCV000015263, RCV000223657, RCV001308867
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with late-onset axonal CMT and progressive hearing loss (CMT2J; 607736), Kabzinska et al. (2007) identified a heterozygous 647C-A transversion in exon 3 of the MPZ gene, resulting in a pro105-to-thr (P105T) substitution in a conserved residue in the extracellular domain. Although none of the patients presented with hearing loss, all had some evidence of hearing loss on audiometric studies. The mutation was not identified in 100 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0035 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
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<span class="mim-text-font">
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MPZ, VAL102VAL
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<br />
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SNP: rs1558154193,
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ClinVar: RCV000015264, RCV000790070, RCV000795131
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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 4 affected members of a family with Charcot-Marie-Tooth disease type 1B (CMT1B; 118200), Crehalet et al. (2010) identified a heterozygous 306G-A transition in exon 3 of the MPZ gene, resulting in a synonymous val102-to-val (V102V) change. In silico analysis predicted that the G-to-A transition would result in increased strength of a cryptic donor splice site, and in vitro cellular studies showed that the 306A variant resulted in a truncated protein. The variant created a sequence that better matched the binding domain for U1 snRNA (RNU1A; 180680), which is required for correct splicing. The phenotype was an adult-onset neuropathy with moderately decreased NCVs, consistent with haploinsufficiency. The findings were important in demonstrating that so-called 'silent' mutations may be disease-causing. </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>.0036 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B</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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MPZ, ASP195TYR
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<br />
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SNP: rs267607247,
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ClinVar: RCV000033921, RCV000700463, RCV000789431, RCV002362608
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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 an Italian father and daughter with Charcot-Marie-Tooth disease type 1B (CMT1B; 118200), Fabrizi et al. (2006) identified a homozygous 670G-T transversion in the MPZ gene, resulting in an asp195-to-tyr (D195Y) substitution in a conserved residue in the intracellular domain of the protein. The mutation was absent in 200 control chromosomes. The father and daughter had classic features of the disorder, including severely decreased NCVs (less than 30 m/s). In contrast, the 41-year-old sister and 75-year-old mother of the proband, who were both heterozygous for the mutation, showed no clinical features except for mildly decreased vibration sense in the distal legs in the mother. Electrophysiologic diffuse mild slowing of NCV in the mother (41 m/s) and daughter (44 m/s). Fabrizi et al. (2006) speculated that the mutation may interfere with a functional phosphorylation site and affect molecular adhesions. Since only the homozygous individuals had an overt phenotype, Fabrizi et al. (2006) concluded that the mutation showed semidominant inheritance in this family. The authors suggested that mutation in the intracellular domain of MPZ, which is a rare occurrence, results in a gene dosage effect. </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>.0037 NEUROPATHY, CONGENITAL HYPOMYELINATING, 2</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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MPZ, 1-BP INS, 549G
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<br />
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SNP: rs1560046845,
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ClinVar: RCV000722093
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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 father and daughter with congenital hypomyelinating neuropathy-2 (CHN2; 618184), Smit et al. (2008) identified a heterozygous 1-bp insertion (c.549_550insG, NM_000539) in exon 4 of the MPZ gene, resulting in a frameshift and premature termination (Leu184AlafsTer51). The mutation was not found in 900 control chromosomes. Functional studies of the variant were not performed, but it was predicted to interfere with adhesion properties of the 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>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Harati and Butler (1985); Lemke and Axel (1985); Skre (1974)
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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">
|
|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
|
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</div>
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<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Auer-Grumbach, M., Strasser-Fuchs, S., Robl, T., Windpassinger, C., Wagner, K.
|
|
<strong>Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.</strong>
|
|
Neurology 61: 1435-1437, 2003. Note: Erratum: Neurology 62: 678 only, 2004.
|
|
|
|
|
|
[PubMed: 14638973]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000094197.46109.75]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Baloh, R. H., Jen, J. C., Kim, G., Baloh, R. W.
|
|
<strong>Chronic cough due to thr124met mutation in the peripheral myelin protein zero (MPZ gene).</strong>
|
|
Neurology 62: 1905-1906, 2004.
|
|
|
|
|
|
[PubMed: 15159512]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000125287.98456.23]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Blanquet-Grossard, F., Pham-Dinh, D., Dautigny, A., Latour, P., Bonnebouche, C., Corbillon, E., Chazot, G., Vandenberghe, A.
|
|
<strong>Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein P0 gene.</strong>
|
|
Clin. Genet. 48: 281-283, 1995.
|
|
|
|
|
|
[PubMed: 8835320]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1995.tb04109.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Boerkoel, C. F., Takashima, H., Garcia, C. A., Olney, R. K., Johnson, J., Berry, K., Russo, P., Kennedy, S., Teebi, A. S., Scavina, M., Williams, L. L., Mancias, P., Butler, I. J., Krajewski, K., Shy, M., Lupski, J. R.
|
|
<strong>Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.</strong>
|
|
Ann. Neurol. 51: 190-201, 2002.
|
|
|
|
|
|
[PubMed: 11835375]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.10089]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Carter, M. S., Li, S., Wilkinson, M. F.
|
|
<strong>A splicing-dependent regulatory mechanism that detects translation signals.</strong>
|
|
EMBO J. 15: 5965-5975, 1996.
|
|
|
|
|
|
[PubMed: 8918474]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chapon, F., Latour, P., Diraison, P., Schaeffer, S., Vandenberghe, A.
|
|
<strong>Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 66: 779-782, 1999.
|
|
|
|
|
|
[PubMed: 10329755]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jnnp.66.6.779]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Crehalet, H., Latour, P., Bonnet, V., Attarian, S., Labauge, P., Bonello, N., Bernard, R., Millat, G., Rousson, R., Bozon, D.
|
|
<strong>U1 snRNA mis-binding: a new cause of CMT1B.</strong>
|
|
Neurogenetics 11: 13-19, 2010.
|
|
|
|
|
|
[PubMed: 19475438]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s10048-009-0199-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
De Jonghe, P., Timmerman, V., Ceuterick, C., Nelis, E., De Vriendt, E., Lofgren, A., Vercruyssen, A., Verellen, C., Van Maldergem, L., Martin, J.-J., Van Broeckhoven, C.
|
|
<strong>The thr124-to-met mutation in peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.</strong>
|
|
Brain 122: 281-290, 1999.
|
|
|
|
|
|
[PubMed: 10071056]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/122.2.281]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fabrizi, G. M., Ferrarini, M., Cavallaro, T., Jarre, L., Polo, A., Rizzuto, N.
|
|
<strong>A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B.</strong>
|
|
Neurology 57: 101-105, 2001.
|
|
|
|
|
|
[PubMed: 11445635]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.57.1.101]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fabrizi, G. M., Pellegrini, M., Angiari, C., Cavallaro, T., Morini, A., Taioli, F., Cabrini, I., Orrico, D., Rizzuto, N.
|
|
<strong>Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.</strong>
|
|
Neuromusc. Disord. 16: 183-187, 2006.
|
|
|
|
|
|
[PubMed: 16488608]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.nmd.2006.01.006]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fabrizi, G. M., Taioli, F., Cavallaro, T., Rigatelli, F., Simonati, A., Mariani, G., Perrone, P., Rizzuto, N.
|
|
<strong>Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with ser49leu in the myelin protein zero.</strong>
|
|
Acta Neuropath. 100: 299-304, 2000.
|
|
|
|
|
|
[PubMed: 10965800]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004019900175]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Harati, Y., Butler, I. J.
|
|
<strong>Congenital hypomyelinating neuropathy.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 48: 1269-1276, 1985.
|
|
|
|
|
|
[PubMed: 4087003]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jnnp.48.12.1269]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hayasaka, K., Himoro, M., Sato, W., Takada, G., Uyemura, K., Shimizu, N., Bird, T. D., Conneally, P. M., Chance, P. F.
|
|
<strong>Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P(0) gene.</strong>
|
|
Nature Genet. 5: 31-34, 1993.
|
|
|
|
|
|
[PubMed: 7693129]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0993-31]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hayasaka, K., Himoro, M., Sawaishi, Y., Nanao, K., Takahashi, T., Takada, G., Nicholson, G. A., Ouvrier, R. A., Tachi, N.
|
|
<strong>De novo mutation of the myelin P(0) gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).</strong>
|
|
Nature Genet. 5: 266-268, 1993.
|
|
|
|
|
|
[PubMed: 7506095]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1193-266]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hayasaka, K., Himoro, M., Wang, Y., Takata, M., Minoshima, S., Shimizu, N., Miura, M., Uyemura, K., Takada, G.
|
|
<strong>Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ).</strong>
|
|
Genomics 17: 755-758, 1993.
|
|
|
|
|
|
[PubMed: 7503936]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1993.1400]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hayasaka, K., Nanao, K., Tahara, M., Sato, W., Takada, G., Miura, M., Uyemura, K.
|
|
<strong>Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin.</strong>
|
|
Biochem. Biophys. Res. Commun. 180: 515-518, 1991.
|
|
|
|
|
|
[PubMed: 1719967]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0006-291x(05)81094-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hayasaka, K., Ohnishi, A., Takada, G., Fukushima, Y., Murai, Y.
|
|
<strong>Mutation of the myeline (sic) P0 gene in the Charcot-Marie-Tooth neuropathy type 1.</strong>
|
|
Biochem. Biophys. Res. Commun. 194: 1317-1322, 1993.
|
|
|
|
|
|
[PubMed: 7688964]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bbrc.1993.1968]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ikegami, T., Nicholson, G., Ikeda, H., Ishida, A., Johnston, H., Wise, G., Ouvrier, R., Hayasaka, K.
|
|
<strong>A novel homozygous mutation of the myelin P(0) gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).</strong>
|
|
Biochem. Biophys. Res. Commun. 222: 107-110, 1996.
|
|
|
|
|
|
[PubMed: 8630052]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bbrc.1996.0705]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Inoue, K., Khajavi, M., Ohyama, T., Hirabayashi, S., Wilson, J., Reggin, J. D., Mancias, P., Butler, I. J., Wilkinson, M. F., Wegner, M., Lupski, J. R.
|
|
<strong>Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.</strong>
|
|
Nature Genet. 36: 361-369, 2004.
|
|
|
|
|
|
[PubMed: 15004559]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1322]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kabzinska, D., Korwin-Piotrowska, T., Dreschler, H., Drac, H., Hausmanowa-Petrusewicz, I., Kochanski, A.
|
|
<strong>Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene. (Letter)</strong>
|
|
Am. J. Med. Genet. 143A: 2196-2199, 2007.
|
|
|
|
|
|
[PubMed: 17663472]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.31908]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kaku, D. A., Parry, G. J., Malamut, R., Lupski, J. R., Garcia, C. A.
|
|
<strong>Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17.</strong>
|
|
Neurology 43: 1806-1808, 1993.
|
|
|
|
|
|
[PubMed: 8414036]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.43.9.1806]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kamholz, J., Shy, M. E.
|
|
<strong>Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.</strong>
|
|
Neurology 63: 194 only, 2004.
|
|
|
|
|
|
[PubMed: 15249646]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.63.1.194]
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</p>
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</li>
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Khajavi, M., Inoue, K., Wisniewski, W., Ohyama, T., Snipes, G. J., Lupski, J. R.
|
|
<strong>Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.</strong>
|
|
Am. J. Hum. Genet. 77: 841-850, 2005.
|
|
|
|
|
|
[PubMed: 16252242]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/497541]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Killian, J. M., Kloepfer, H. W.
|
|
<strong>Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy.</strong>
|
|
Ann. Neurol. 5: 515-522, 1979.
|
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|
|
|
[PubMed: 475348]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410050604]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kochanski, A., Drac, H., Kabzinska, D., Ryniewicz, B., Rowinska-Marcinska, K., Nowakowski, A., Hausmanowa-Petrusewicz, I.
|
|
<strong>A novel MPZ gene mutation in congenital neuropathy with hypomyelination.</strong>
|
|
Neurology 62: 2122-2123, 2004.
|
|
|
|
|
|
[PubMed: 15184631]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000127606.93772.3a]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kulkens, T., Bolhuis, P. A., Wolterman, R. A., Kemp, S., te Nijenhuis, S., Valentijn, L. J., Hensels, G. W., Jennekens, F. G. I., de Visser, M., Hoogendijk, J. E., Baas, F.
|
|
<strong>Deletion of the serine 34 codon from the major peripheral myelin protein P(0) gene in Charcot-Marie-Tooth disease type 1B.</strong>
|
|
Nature Genet. 5: 35-39, 1993.
|
|
|
|
|
|
[PubMed: 7693130]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0993-35]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Leal, A., Berghoff, C., Berghoff, M., Del Valle, G., Contreras, C., Montoya, O., Hernandez, E., Barrantes, R., Schlotzer-Schrehardt, U., Neundorfer, B., Reis, A., Rautenstrauss, B., Heuss, D.
|
|
<strong>Charcot-Marie-Tooth disease: a novel tyr145ser mutation in the myelin protein zero (MPZ, PO) gene causes different phenotypes in homozygous and heterozygous carriers within one family.</strong>
|
|
Neurogenetics 4: 191-197, 2003.
|
|
|
|
|
|
[PubMed: 12845552]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s10048-003-0153-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lee, Y. C., Yu, C. T. R., Lin, K. P., Chang, M. H., Hsu, S. L., Liu, Y. F., Lu, Y. C., Soong, B. W.
|
|
<strong>MPZ mutation G123S characterization: evidence for a complex pathogenesis in CMT disease.</strong>
|
|
Neurology 70: 273-277, 2008.
|
|
|
|
|
|
[PubMed: 18209201]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000296828.66915.bf]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lemke, G., Axel, R.
|
|
<strong>Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin.</strong>
|
|
Cell 40: 501-508, 1985.
|
|
|
|
|
|
[PubMed: 2578885]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0092-8674(85)90198-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lemke, G.
|
|
<strong>Molecular biology of the major myelin genes.</strong>
|
|
Trends Neurosci. 9: 266-270, 1986.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lupski, J. R., Montes de Oca-Luna, R., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B. J., Saucedo-Cardenas, O., Barker, D. F., Killian, J. M., Garcia, C. A., Chakravarti, A., Patel, P. I.
|
|
<strong>DNA duplication associated with Charcot-Marie-Tooth disease type 1A.</strong>
|
|
Cell 66: 219-232, 1991.
|
|
|
|
|
|
[PubMed: 1677316]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0092-8674(91)90613-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Maeda, M. H., Mitsui, J., Soong, B.-W., Takahashi, Y., Ishiura, H., Hayashi, S., Shirota, Y., Ichikawa, Y., Matsumoto, H., Arai, M., Okamoto, T., Miyama, S., Shimizu, J., Inazawa, J., Goto, J., Tsuji, S.
|
|
<strong>Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.</strong>
|
|
Ann. Neurol. 71: 84-92, 2012.
|
|
|
|
|
|
[PubMed: 22275255]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.22658]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mandich, P., Fossa, P., Capponi, S., Geroldi, A., Acquaviva, M., Gulli, R., Ciotti, P., Manganelli, F., Grandis, M., Bellone, E.
|
|
<strong>Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.</strong>
|
|
Europ. J. Hum. Genet. 17: 1129-1134, 2009.
|
|
|
|
|
|
[PubMed: 19293842]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ejhg.2009.37]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mandich, P., Mancardi, G. L., Varese, A., Soriani, S., Di Maria, E., Bellone, E., Bado, M., Gross, L., Windebank, A. J., Ajmar, F., Schenone, A.
|
|
<strong>Congenital hypomyelination due to myelin protein zero Q215X mutation.</strong>
|
|
Ann. Neurol. 45: 676-678, 1999.
|
|
|
|
|
|
[PubMed: 10319895]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/1531-8249(199905)45:5<676::aid-ana21>3.0.co;2-k]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Marrosu, M. G., Vaccargiu, S., Marrosu, G., Vannelli, A., Cianchetti, C., Muntoni, F.
|
|
<strong>Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.</strong>
|
|
Neurology 50: 1397-1401, 1998.
|
|
|
|
|
|
[PubMed: 9595994]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.50.5.1397]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Martini, R., Zielasek, J., Toyka, K. V., Giese, K. P., Schachner, M.
|
|
<strong>Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies.</strong>
|
|
Nature Genet. 11: 281-286, 1995.
|
|
|
|
|
|
[PubMed: 7581451]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1195-281]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mastaglia, F. L., Nowak, K. J., Stell, R., Phillips, B. A., Edmondston, J. E., Dorosz, S. M., Wilton, S. D., Hallmayer, J., Kakulas, B. A., Laing, N. G.
|
|
<strong>Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 67: 174-179, 1999.
|
|
|
|
|
|
[PubMed: 10406984]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jnnp.67.2.174]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Misu, K., Yoshihara, T., Shikama, Y., Awaki, E., Yamamoto, M., Hattori, N., Hirayama, M., Takegami, T., Nakashima, K., Sobue, G.
|
|
<strong>An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (thr124met or asp75val).</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 69: 806-811, 2000.
|
|
|
|
|
|
[PubMed: 11080237]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jnnp.69.6.806]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nagy, E., Maquat, L. E.
|
|
<strong>A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance.</strong>
|
|
Trends Biochem. Sci. 23: 198-199, 1998.
|
|
|
|
|
|
[PubMed: 9644970]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0968-0004(98)01208-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nakagawa, M., Suehara, M., Saito, A., Takashima, H., Umehara, F., Saito, M., Kanzato, N., Matsuzaki, T., Takenaga, S., Sakoda, S., Izumo, S., Osame, M.
|
|
<strong>A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths.</strong>
|
|
Neurology 52: 1271-1275, 1999.
|
|
|
|
|
|
[PubMed: 10214757]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.52.6.1271]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nelis, E., Haites, N., Van Broeckhoven, C.
|
|
<strong>Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.</strong>
|
|
Hum. Mutat. 13: 11-28, 1999.
|
|
|
|
|
|
[PubMed: 9888385]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Oakey, R. J., Watson, M. L., Seldin, M. F.
|
|
<strong>Construction of a physical map on mouse and human chromosome 1: comparison of 13 Mb of mouse and 11 Mb of human DNA.</strong>
|
|
Hum. Molec. Genet. 1: 613-620, 1992.
|
|
|
|
|
|
[PubMed: 1301170]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/1.8.613]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ouvrier, R. A., McLeod, J. G., Conchin, T. E.
|
|
<strong>The hypertrophic forms of hereditary motor and sensory neuropathy: a study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood.</strong>
|
|
Brain 110: 121-148, 1987.
|
|
|
|
|
|
[PubMed: 3467805]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/110.1.121]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pham-Dinh, D., Fourbil, Y., Blanquet, F., Mattei, M.-G., Roeckel, N., Latour, P., Chazot, G., Vandenberghe, A., Dautigny, A.
|
|
<strong>The major peripheral myelin protein zero gene: structure and localization in the cluster of Fc-gamma receptor genes on human chromosome 1q21.3-q23.</strong>
|
|
Hum. Molec. Genet. 2: 2051-2054, 1993.
|
|
|
|
|
|
[PubMed: 7509228]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/2.12.2051]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Plante-Bordeneuve, V., Guiochon-Mantel, A., Lacroix, C., Lapresle, J., Said, G.
|
|
<strong>The Roussy-Levy family: from the original description to the gene.</strong>
|
|
Ann. Neurol. 46: 770-773, 1999.
|
|
|
|
|
|
[PubMed: 10553995]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/1531-8249(199911)46:5<770::aid-ana13>3.0.co;2-u]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roa, B. B., Warner, L. E., Garcia, C. A., Russo, D., Lovelace, R., Chance, P. F., Lupski, J. R.
|
|
<strong>Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.</strong>
|
|
Hum. Mutat. 7: 36-45, 1996.
|
|
|
|
|
|
[PubMed: 8664899]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<36::AID-HUMU5>3.0.CO;2-N]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rouger, H., LeGuern, E., Gouider, R., Tardieu, S., Birouk, N., Gugenheim, M., Bouche, P., Agid, Y., Brice, A.
|
|
<strong>High frequency of mutations in codon 98 of the peripheral myelin protein Po gene in 20 French CMT1 patients. (Letter)</strong>
|
|
Am. J. Hum. Genet. 58: 638-641, 1996.
|
|
|
|
|
|
[PubMed: 8644725]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roussy, G., Levy, G.
|
|
<strong>Sept cas d'une maladie familiale particulaiere.</strong>
|
|
Rev. Neurol. 45: 427-450, 1926.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sabet, A., Li, J., Ghandour, K., Pu, Q., Wu, X., Kamholz, J., Shy, M. E., Cambi, F.
|
|
<strong>Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B.</strong>
|
|
Neurology 67: 1141-1146, 2006.
|
|
|
|
|
|
[PubMed: 17030746]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000238499.37764.b1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schiavon, F., Rampazzo, A., Merlini, L., Angelini, C., Mostacciuolo, M. L.
|
|
<strong>Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.</strong>
|
|
Hum. Mutat. Suppl. 1: S217-S219, 1998.
|
|
|
|
|
|
[PubMed: 9452091]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.1380110170]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Seeman, P., Mazanec, R., Huehne, K., Suslikova, P., Keller, O., Rautenstrauss, B.
|
|
<strong>Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.</strong>
|
|
Neurology 63: 733-735, 2004.
|
|
|
|
|
|
[PubMed: 15326256]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000134605.61307.de]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Senderek, J., Hermanns, B., Lehmann, U., Bergmann, C., Marx, G., Kabus, C., Timmerman, V., Stoltenburg-Didinger, G., Schroder, J. M.
|
|
<strong>Charcot-Marie-Tooth neuropathy type 2 and PO point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible 'hotspot' on Thr124Met.</strong>
|
|
Brain Path. 10: 235-248, 2000.
|
|
|
|
|
|
[PubMed: 10764043]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1750-3639.2000.tb00257.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Skre, H.
|
|
<strong>Genetic and clinical aspects of Charcot-Marie-Tooth disease.</strong>
|
|
Clin. Genet. 6: 98-118, 1974.
|
|
|
|
|
|
[PubMed: 4430158]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1974.tb00638.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Smit, L. S., Roofthooft, D., van Ruissen, F., Baas, F., van Doorn, P. A.
|
|
<strong>Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family.</strong>
|
|
Neuromusc. Disord. 18: 59-62, 2008.
|
|
|
|
|
|
[PubMed: 17825553]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.nmd.2007.07.011]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sorour, E., MacMillan, J., Upadhyaya, M.
|
|
<strong>Novel mutation of the myelin P0 gene in a CMT1B family.</strong>
|
|
Hum. Mutat. 9: 74-77, 1997.
|
|
|
|
|
|
[PubMed: 8990016]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<74::AID-HUMU16>3.0.CO;2-M]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Su, Y., Brooks, D. G., Li, L., Lepercq, J., Trofatter, J. A., Ravetch, J. V., Lebo, R. V.
|
|
<strong>Myelin protein zero gene mutated in Charcot-Marie-Tooth type 1B patients.</strong>
|
|
Proc. Nat. Acad. Sci. 90: 10856-10860, 1993.
|
|
|
|
|
|
[PubMed: 7504284]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.90.22.10856]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sutcliffe, J. G.
|
|
<strong>The genes for myelin.</strong>
|
|
Trends Genet. 3: 73-76, 1987.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Szigeti, K., Saifi, G. M., Armstrong, D., Belmont, J. W., Miller, G., Lupski, J. R.
|
|
<strong>Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation.</strong>
|
|
Ann. Neurol. 54: 398-402, 2003.
|
|
|
|
|
|
[PubMed: 12953275]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.10681]
|
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|
|
|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
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|
|
Tachi, N., Ishikawa, Y., Minami, R.
|
|
<strong>Two cases of congenital hypomyelination neuropathy.</strong>
|
|
Brain Dev. 6: 560-565, 1984.
|
|
|
|
|
|
[PubMed: 6099985]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0387-7604(84)80101-1]
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</li>
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Thomas, F. P., Lebo, R. V., Rosoklija, G., Ding, X.-S., Lovelace, R. E., Latov, N., Hays, A. P.
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<strong>Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome.</strong>
|
|
Acta Neuropath. 87: 91-97, 1994.
|
|
|
|
|
|
[PubMed: 7511317]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00386259]
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Triggs, W. J., Brown, R. H., Jr., Menkes, D. L.
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<strong>Case 18-2006: a 57-year-old woman with numbness and weakness of the feet and legs.</strong>
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|
New Eng. J. Med. 354: 2584-2592, 2006.
|
|
|
|
|
|
[PubMed: 16775239]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMcpc069009]
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</p>
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</li>
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|
|
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Umehara, F., Takenaga, S., Nakagawa, M., Takahashi, K., Izumo, S., Matsumuro, K., Sakota, S., Nishimura, T., Yoshikawa, H., Osame, M.
|
|
<strong>Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex.</strong>
|
|
Acta Neuropath. 86: 602-608, 1993.
|
|
|
|
|
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[PubMed: 8310815]
|
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|
|
|
|
[Full Text: https://doi.org/10.1007/BF00294299]
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Warner, L. E., Hilz, M. J., Appel, S. H., Killian, J. M., Kolodny, E. H., Karpati, G., Carpenter, S., Watters, G. V., Wheeler, C., Witt, D., Bodell, A., Nelis, E., Van Broeckhoven, C., Lupski, J. R.
|
|
<strong>Clinical phenotypes of different MPZ(P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.</strong>
|
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Neuron 17: 451-460, 1996.
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[PubMed: 8816708]
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|
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|
|
[Full Text: https://doi.org/10.1016/s0896-6273(00)80177-4]
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</li>
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Warner, L. E., Shohat, M., Shorer, Z., Lupski, J. R.
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<strong>Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.</strong>
|
|
Hum. Mutat. 10: 21-24, 1997.
|
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|
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[PubMed: 9222756]
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|
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[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)10:1<21::AID-HUMU3>3.0.CO;2-P]
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</li>
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Watanabe, M., Yamamoto, N., Ohkoshi, N., Nagata, H., Kohno, Y., Hayashi, A., Tamaoka, A., Shoji, S.
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<strong>Corticosteroid-responsive asymmetric neuropathy with a myelin protein zero gene mutation.</strong>
|
|
Neurology 59: 767-769, 2002.
|
|
|
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|
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[PubMed: 12221176]
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|
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|
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[Full Text: https://doi.org/10.1212/wnl.59.5.767]
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Wrabetz, L., Feltri, M. L., Quattrini, A., Imperiale, D., Previtali, S., D'Antonio, M., Martini, R., Yin, X., Trapp, B. D., Zhou, L., Chiu, S.-Y., Messing, A.
|
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<strong>P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves.</strong>
|
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J. Cell Biol. 148: 1021-1033, 2000.
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[PubMed: 10704451]
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[Full Text: https://doi.org/10.1083/jcb.148.5.1021]
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You, K.-H., Hsieh, C.-L., Hayes, C., Stahl, N., Francke, U., Popko, B.
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<strong>DNA sequence, genomic organization, and chromosomal localization of the mouse peripheral myelin protein zero gene: identification of polymorphic alleles.</strong>
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Genomics 9: 751-757, 1991.
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[PubMed: 1709914]
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[Full Text: https://doi.org/10.1016/0888-7543(91)90370-t]
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Cassandra L. Kniffin - updated : 11/20/2018<br>Cassandra L. Kniffin - updated : 1/29/2013<br>Cassandra L. Kniffin - updated : 5/5/2010<br>Cassandra L. Kniffin - updated : 3/1/2010<br>Cassandra L. Kniffin - updated : 1/25/2010<br>Cassandra L. Kniffin - updated : 2/24/2009<br>Cassandra L. Kniffin - updated : 1/12/2009<br>Cassandra L. Kniffin - updated : 8/2/2007<br>Victor A. McKusick - updated : 7/5/2006<br>Victor A. McKusick - updated : 10/14/2005<br>Cassandra L. Kniffin - updated : 2/9/2005<br>Cassandra L. Kniffin - updated : 1/26/2005<br>Cassandra L. Kniffin - updated : 3/16/2004<br>Cassandra L. Kniffin - updated : 12/23/2003<br>Victor A. McKusick - updated : 10/13/2003<br>Cassandra L. Kniffin - updated : 5/27/2003<br>Cassandra L. Kniffin - reorganized : 5/12/2003<br>Cassandra L. Kniffin - updated : 5/12/2003<br>Cassandra L. Kniffin - updated : 5/8/2003<br>Victor A. McKusick - updated : 4/16/2002<br>Victor A. McKusick - updated : 1/24/2001<br>Victor A. McKusick - updated : 4/28/1999<br>Victor A. McKusick - updated : 1/12/1999<br>Victor A. McKusick - updated : 8/26/1997<br>Victor A. McKusick - updated : 2/28/1997
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Victor A. McKusick : 10/16/1986
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carol : 08/15/2024<br>carol : 08/15/2024<br>alopez : 07/27/2023<br>carol : 04/18/2022<br>carol : 11/27/2018<br>ckniffin : 11/20/2018<br>carol : 03/09/2018<br>carol : 03/07/2018<br>carol : 12/13/2016<br>carol : 08/18/2016<br>joanna : 08/04/2015<br>carol : 2/20/2014<br>carol : 3/7/2013<br>ckniffin : 2/18/2013<br>alopez : 2/5/2013<br>ckniffin : 1/29/2013<br>wwang : 5/11/2010<br>ckniffin : 5/5/2010<br>wwang : 3/3/2010<br>ckniffin : 3/1/2010<br>wwang : 1/29/2010<br>ckniffin : 1/25/2010<br>wwang : 3/4/2009<br>ckniffin : 2/24/2009<br>wwang : 1/16/2009<br>ckniffin : 1/12/2009<br>wwang : 8/20/2007<br>ckniffin : 8/2/2007<br>alopez : 7/7/2006<br>terry : 7/5/2006<br>wwang : 4/19/2006<br>terry : 2/3/2006<br>wwang : 12/7/2005<br>alopez : 10/17/2005<br>terry : 10/14/2005<br>alopez : 7/14/2005<br>tkritzer : 2/11/2005<br>ckniffin : 2/9/2005<br>tkritzer : 2/2/2005<br>ckniffin : 1/26/2005<br>ckniffin : 1/25/2005<br>carol : 8/17/2004<br>alopez : 4/2/2004<br>tkritzer : 3/30/2004<br>ckniffin : 3/16/2004<br>tkritzer : 2/18/2004<br>ckniffin : 2/4/2004<br>tkritzer : 12/30/2003<br>ckniffin : 12/23/2003<br>carol : 12/12/2003<br>ckniffin : 12/11/2003<br>ckniffin : 12/8/2003<br>cwells : 11/7/2003<br>tkritzer : 10/14/2003<br>tkritzer : 10/13/2003<br>tkritzer : 6/9/2003<br>ckniffin : 5/29/2003<br>ckniffin : 5/27/2003<br>carol : 5/12/2003<br>ckniffin : 5/12/2003<br>carol : 5/12/2003<br>carol : 5/12/2003<br>ckniffin : 5/8/2003<br>ckniffin : 4/24/2003<br>terry : 4/16/2002<br>carol : 1/25/2001<br>terry : 1/24/2001<br>kayiaros : 7/12/1999<br>alopez : 5/10/1999<br>terry : 4/28/1999<br>carol : 1/14/1999<br>terry : 1/12/1999<br>mark : 3/2/1998<br>mark : 2/27/1998<br>jenny : 9/5/1997<br>terry : 8/26/1997<br>mark : 2/28/1997<br>terry : 2/26/1997<br>jamie : 12/18/1996<br>terry : 12/12/1996<br>terry : 12/4/1996<br>terry : 3/27/1996<br>mark : 3/21/1996<br>terry : 3/13/1996<br>mark : 3/10/1996<br>mark : 3/5/1996<br>terry : 3/5/1996<br>mark : 2/1/1996<br>mark : 1/24/1996<br>mark : 6/8/1995<br>pfoster : 10/3/1994<br>carol : 5/11/1994<br>carol : 12/9/1993<br>carol : 9/21/1993<br>carol : 9/14/1993
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