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Entry
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- *134790 - FERRITIN LIGHT CHAIN; FTL
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*134790</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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<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="#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="#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/134790">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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</nav>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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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=ENSG00000087086;t=ENST00000331825" 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=2512" 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=134790" 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 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=ENSG00000087086;t=ENST00000331825" 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_000146" 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_000146" 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=134790" 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=00616&isoform_id=00616_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/FTL" 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/28519,120523,182514,182516,182518,1340145,1340146,2230869,13279005,14250069,15530277,16740989,16741009,16876869,17512032,18203882,20149498,28894135,31417042,33096741,37573985,38541893,42794548,48145547,49473438,70004607,70004664,119572807,119572808,171702774,171702799,171702853,171702855,189053094,308219734,449331665" 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/P02792" 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=2512" 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=ENSG00000087086;t=ENST00000331825" 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=FTL" 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=FTL" 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+2512" 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/FTL" 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:2512" 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/2512" 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=chr19&hgg_gene=ENST00000331825.11&hgg_start=48965309&hgg_end=48966879&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/gene-dosage/HGNC:3999" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/ftl" 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=134790[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=134790[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://gnomad.broadinstitute.org/gene/ENSG00000087086" 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=FTL" 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=FTL" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=FTL&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/PA28412" 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:3999" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0030449.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/search?q=MGI:5434102 MGI:95589 MGI:95590" 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/FTL#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/batch/summary?idType=MGI&ids=MGI:5434102 MGI:95589 MGI:95590" 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/2512/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=2512" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
|
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<div id="mimWormbaseGeneFold" class="collapse">
|
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00001500;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00001500 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00001501;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00001501 </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 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">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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|
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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:2512" 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=FTL&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> 699299001, 702398007<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
134790
|
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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>
|
|
<h3>
|
|
<span class="mim-font">
|
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FERRITIN LIGHT CHAIN; FTL
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|
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</span>
|
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</h3>
|
|
</div>
|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=FTL" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">FTL</a></em></strong>
|
|
</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/19/920?start=-3&limit=10&highlight=920">19q13.33</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:48965309-48966879&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'})">19:48,965,309-48,966,879</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=600886,615604,606159" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/19/920?start=-3&limit=10&highlight=920">
|
|
19q13.33
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Hyperferritinemia-cataract syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/600886"> 600886 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
|
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|
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|
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|
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</tr>
|
|
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|
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
L-ferritin deficiency, dominant and recessive
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/615604"> 615604 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Neurodegeneration with brain iron accumulation 3
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/606159"> 606159 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
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<p>The iron storage protein ferritin is a complex of 24 L-ferritin (FTL) and H-ferritin (FTH1; <a href="/entry/134770">134770</a>) subunits in ratios that vary in different cell types. FTH subunits exhibit ferroxidase activity, converting Fe(2+) to Fe(3+), so that iron may be stored in the ferritin mineral core, which prevents undesirable reactions of Fe(2+) with oxygen. FTL subunits are devoid of catalytic activity but are thought to facilitate nucleation and mineralization of the iron center (summary by <a href="#33" class="mim-tip-reference" title="Sammarco, M. C., Ditch, S., Banerjee, A., Grabczyk, E. <strong>Ferritin L and H subunits are differentially regulated on a post-transcriptional level.</strong> J. Biol. Chem. 283: 4578-4587, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18160403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18160403</a>] [<a href="https://doi.org/10.1074/jbc.M703456200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18160403">Sammarco et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18160403" 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>Studies of ferritin synthesis in cell-free systems by <a href="#39" class="mim-tip-reference" title="Watanabe, N., Drysdale, J. W. <strong>Evidence for distinct mRNAs for ferritin subunits.</strong> Biochem. Biophys. Res. Commun. 98: 507-511, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6111999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6111999</a>] [<a href="https://doi.org/10.1016/0006-291x(81)90869-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6111999">Watanabe and Drysdale (1981)</a> suggested that the H and L subunits in human and rat are derived from different mRNA molecules. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6111999" 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="#3" class="mim-tip-reference" title="Brown, A. J. P., Leibold, E. A., Munro, H. N. <strong>Isolation of cDNA clones for the light subunit of rat liver ferritin: evidence that the light subunit is encoded by a multigene family.</strong> Proc. Nat. Acad. Sci. 80: 1265-1269, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6187009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6187009</a>] [<a href="https://doi.org/10.1073/pnas.80.5.1265" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6187009">Brown et al. (1983)</a> noted that mammalian liver and spleen ferritin (relative mass about 450 kD) consists of 24 subunits of 2 species, the heavy subunit (relative mass, 21 kD) and the light subunit (relative mass, 19 kD). They presented evidence that, in rat, the 2 subunits are coded by separate mRNAs and that a family of genes encodes the light subunit. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6187009" 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="#7" class="mim-tip-reference" title="Cazzola, M., Bergamaschi, G., Tonon, L., Arbustini, E., Grasso, M., Vercesi, E., Barosi, G., Bianchi, P. E., Cairo, G., Arosio, P. <strong>Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA.</strong> Blood 90: 814-821, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9226182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9226182</a>]" pmid="9226182">Cazzola et al. (1997)</a> stated that the human ferritin L chain contains 174 residues and has an apparent molecular mass of 19 kD. They found that serum ferritin, with an apparent molecular mass of 23 kD, was a glycosylated form of intracellular ferritin L chain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9226182" 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="#12" class="mim-tip-reference" title="Curtis, A. R. J., Fey, C., Morris, C. M., Bindoff, L. A., Ince, P. G., Chinnery, P. F., Coulthard, A., Jackson, M. J., Jackson, A. P., McHale, D. P., Hay, D., Barker, W. A., Markham, A. F., Bates, D., Curtis, A., Burn, J. <strong>Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.</strong> Nature Genet. 28: 350-354, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11438811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11438811</a>] [<a href="https://doi.org/10.1038/ng571" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11438811">Curtis et al. (2001)</a> reported that the human ferritin light chain contains 175 residues and that the peptide folds into 5 alpha-helical domains designated A through E. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11438811" 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>By study of human/Chinese hamster hybrid cells and use of a radioimmunoassay specific for human ferritin, <a href="#6" class="mim-tip-reference" title="Caskey, J. H., Jones, C., Miller, Y. E., Seligman, P. A. <strong>Human ferritin gene is assigned to chromosome 19.</strong> Proc. Nat. Acad. Sci. 80: 482-486, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6572903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6572903</a>] [<a href="https://doi.org/10.1073/pnas.80.2.482" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6572903">Caskey et al. (1983)</a> showed that chromosome 19 encodes the structural gene for ferritin. By in situ hybridization, <a href="#28" class="mim-tip-reference" title="McGill, J. R., Boyd, D., Barrett, K. J., Drysdale, J. W., Moore, C. M. <strong>Localization of human ferritin H (heavy) and L (light) subunits by in situ hybridization. (Abstract)</strong> Am. J. Hum. Genet. 36: 146S, 1984."None>McGill et al. (1984)</a> confirmed the assignment of the light chain gene to chromosome 19 but concluded that the heavy chain is encoded by 1p. By study of hamster-human and mouse-human hybrid cells, some with translocations involving chromosome 19, <a href="#40" class="mim-tip-reference" title="Worwood, M., Brook, J. D., Cragg, S. J., Hellkuhl, B., Jones, B. M., Perera, P., Roberts, S. H., Shaw, D. J. <strong>Assignment of human ferritin genes to chromosomes 11 and 19q13.3-19qter.</strong> Hum. Genet. 69: 371-374, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3857215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3857215</a>] [<a href="https://doi.org/10.1007/BF00291657" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3857215">Worwood et al. (1985)</a> concluded that light subunits of ferritin (rich in human spleen ferritin) are coded by a gene in segment 19q13.3-qter and that the gene for the heavy subunit (rich in human heart ferritin) is located on chromosome 11. By miniaturized restriction enzyme analysis of sorted chromosomes, <a href="#23" class="mim-tip-reference" title="Lebo, R. V., Kan, Y. W., Cheung, M.-C., Jain, S. K., Drysdale, J. <strong>Human ferritin light chain gene sequences mapped to several sorted chromosomes.</strong> Hum. Genet. 71: 325-328, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3000916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3000916</a>] [<a href="https://doi.org/10.1007/BF00388458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3000916">Lebo et al. (1985)</a> demonstrated ferritin light-chain genes on at least 3 chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3857215+3000916+6572903" 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="#31" class="mim-tip-reference" title="Munro, H. N., Aziz, N., Leibold, E. A., Murray, M., Rogers, J., Vass, J. K., White, K. <strong>The ferritin genes: structure, expression, and regulation.</strong> Ann. N.Y. Acad. Sci. 526: 113-123, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3291676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3291676</a>] [<a href="https://doi.org/10.1111/j.1749-6632.1988.tb55497.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3291676">Munro et al. (1988)</a> reviewed information on the ferritin genes. They pointed out that in both the rat and the human, several ferritin pseudogenes can be recognized not only because they are flanked by 5-prime and 3-prime direct repeats representing the site of their retroinsertion into the chromatin, but also because they differ from functional genes by the absence of introns and by the presence of polyadenylic acid tails that have been inserted onto the 3-prime end of the messenger transcription of the functional gene. They cited the evidence of <a href="#34" class="mim-tip-reference" title="Santoro, C., Marone, M., Ferrone, M., Costanzo, F., Colombo, M., Minganti, C., Cortese, R., Silengo, L. <strong>Cloning of the gene coding for human L apoferritin.</strong> Nucleic Acids Res. 14: 2863-2876, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3754330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3754330</a>] [<a href="https://doi.org/10.1093/nar/14.7.2863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3754330">Santoro et al. (1986)</a> and of <a href="#21" class="mim-tip-reference" title="Hentze, M. W., Keim, S., Papadopoulos, P., O'Brien, S., Modi, W., Drysdale, J., Leonard, W. J., Harford, J. B., Klausner, R. D. <strong>Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene.</strong> Proc. Nat. Acad. Sci. 83: 7226-7230, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3020541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3020541</a>] [<a href="https://doi.org/10.1073/pnas.83.19.7226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3020541">Hentze et al. (1986)</a> that there is only one expressed H and one expressed L gene in the human genome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3754330+3020541+3291676" 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>By typing the progeny of 2 sets of genetic crosses, <a href="#15" class="mim-tip-reference" title="Filie, J. D., Buckler, C. E., Kozak, C. A. <strong>Genetic mapping of the mouse ferritin light chain gene and 11 pseudogenes on 11 mouse chromosomes.</strong> Mammalian Genome 9: 111-113, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9457670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9457670</a>] [<a href="https://doi.org/10.1007/s003359900699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9457670">Filie et al. (1998)</a> determined the map location of loci containing sequences related to the ferritin light chain gene in the mouse. Twelve loci were positioned on 11 different chromosomes. One of these genes mapped to a position on chromosome 7 predicted to contain the expressed Flt1 gene on the basis of the previously determined position of the human homolog on 19q13.3-q13.4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9457670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Human ferritins expressed in yeast normally contain little iron, which led <a href="#36" class="mim-tip-reference" title="Shi, H., Bencze, K. Z., Stemmler, T. L., Philpott, C. C. <strong>A cytosolic iron chaperone that delivers iron to ferritin.</strong> Science 320: 1207-1210, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18511687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18511687</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18511687[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/10.1126/science.1157643" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18511687">Shi et al. (2008)</a> to hypothesize that yeast, which do not express ferritins, might also lack the requisite iron chaperones needed for delivery of iron to ferritin. In a genetic screen to identify human genes that, when expressed in yeast, could increase the amount of iron loaded into ferritin, <a href="#36" class="mim-tip-reference" title="Shi, H., Bencze, K. Z., Stemmler, T. L., Philpott, C. C. <strong>A cytosolic iron chaperone that delivers iron to ferritin.</strong> Science 320: 1207-1210, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18511687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18511687</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18511687[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/10.1126/science.1157643" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18511687">Shi et al. (2008)</a> identified poly(rC) binding protein-1 (PCBP1; <a href="/entry/601209">601209</a>). PCBP1 bound to ferritin in vivo, and bound iron and facilitated iron loading into ferritin in vitro. Depletion of PCBP1 in human cells inhibited ferritin iron loading and increased cytosolic iron pools. Thus, <a href="#36" class="mim-tip-reference" title="Shi, H., Bencze, K. Z., Stemmler, T. L., Philpott, C. C. <strong>A cytosolic iron chaperone that delivers iron to ferritin.</strong> Science 320: 1207-1210, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18511687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18511687</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18511687[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/10.1126/science.1157643" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18511687">Shi et al. (2008)</a> concluded that PCBP1 can function as a cytosolic iron chaperone in the delivery of iron to ferritin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18511687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using reporter genes expressed in HEK293 cells, <a href="#33" class="mim-tip-reference" title="Sammarco, M. C., Ditch, S., Banerjee, A., Grabczyk, E. <strong>Ferritin L and H subunits are differentially regulated on a post-transcriptional level.</strong> J. Biol. Chem. 283: 4578-4587, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18160403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18160403</a>] [<a href="https://doi.org/10.1074/jbc.M703456200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18160403">Sammarco et al. (2008)</a> determined that expression of both FTL and FTH increased in the presence of excess iron under normoxic culture conditions (20% oxygen). However, expression of FTL, but not FTH, increased in the presence of excess iron under hypoxic culture conditions (1% oxygen). <a href="#33" class="mim-tip-reference" title="Sammarco, M. C., Ditch, S., Banerjee, A., Grabczyk, E. <strong>Ferritin L and H subunits are differentially regulated on a post-transcriptional level.</strong> J. Biol. Chem. 283: 4578-4587, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18160403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18160403</a>] [<a href="https://doi.org/10.1074/jbc.M703456200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18160403">Sammarco et al. (2008)</a> concluded that expression of FTL and FTH are differentially regulated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18160403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Mancias, J. D., Wang, X., Gygi, S. P., Harper, J. W., Kimmelman, A. C. <strong>Quantitative proteomics identifies NCOA4 as the cargo receptor mediating ferritinophagy.</strong> Nature 509: 105-109, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24695223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24695223</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24695223[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature13148" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24695223">Mancias et al. (2014)</a> used quantitative proteomics to identify a cohort of novel and known autophagosome-enriched proteins, including cargo receptors, in human cells. Like known cargo receptors, nuclear receptor coactivator-4 (NCOA4; <a href="/entry/601984">601984</a>) was highly enriched in autophagosomes, and associated with autophagy-8 (ATG8)-related proteins that recruit cargo-receptor complexes into autophagosomes (see, e.g., GABARAPL2, <a href="/entry/607452">607452</a>). Unbiased identification of NCOA4-associated proteins revealed ferritin heavy chain (see FTH1, <a href="/entry/134770">134770</a>) and FTL, components of an iron-filled cage structure that protects cells from reactive iron species but is degraded via autophagy to release iron. <a href="#26" class="mim-tip-reference" title="Mancias, J. D., Wang, X., Gygi, S. P., Harper, J. W., Kimmelman, A. C. <strong>Quantitative proteomics identifies NCOA4 as the cargo receptor mediating ferritinophagy.</strong> Nature 509: 105-109, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24695223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24695223</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24695223[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature13148" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24695223">Mancias et al. (2014)</a> found that delivery of ferritin to lysosomes required NCOA4, and an inability of NCOA4-deficient cells to degrade ferritin led to decreased bioavailable intracellular iron. <a href="#26" class="mim-tip-reference" title="Mancias, J. D., Wang, X., Gygi, S. P., Harper, J. W., Kimmelman, A. C. <strong>Quantitative proteomics identifies NCOA4 as the cargo receptor mediating ferritinophagy.</strong> Nature 509: 105-109, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24695223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24695223</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24695223[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature13148" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24695223">Mancias et al. (2014)</a> concluded that their work identified NCOA4 as a selective cargo receptor for autophagic turnover of ferritin (ferritinophagy), which is critical for iron homeostasis, and provided a resource for further dissection of autophagosomal cargo-receptor connectivity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24695223" 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><strong><em>Hyperferritinemia with or without Cataract</em></strong></p><p>
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<a href="#2" class="mim-tip-reference" title="Beaumont, C., Leneuve, P., Devaux, I., Scoazec, J.-Y., Berthier, M., Loiseau, M.-N., Grandchamp, B., Bonneau, D. <strong>Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract.</strong> Nature Genet. 11: 444-446, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493028</a>] [<a href="https://doi.org/10.1038/ng1295-444" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493028">Beaumont et al. (1995)</a> identified a mutation in the iron-responsive element (IRE) in the 5-prime noncoding region of the FTL gene (<a href="#0001">134790.0001</a>) in the hyperferritinemia-cataract syndrome (HRFTC; <a href="/entry/600886">600886</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493028" 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="#4" class="mim-tip-reference" title="Camaschella, C., Zecchina, G., Lockitch, G., Roetto, A., Campanella, A., Arosio, P., Levi, S. <strong>A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins.</strong> Brit. J. Haemat. 108: 480-482, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10759702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10759702</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2000.01920.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10759702">Camaschella et al. (2000)</a> reported a father and daughter with only modest hyperferritinemia and subclinical cataract in whom they identified a mutation in the IRE of FTL (51G-C; <a href="#0009">134790.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10759702" 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 17 unrelated patients with hyperferritinemia, 1 of whom had bilateral cataract, <a href="#22" class="mim-tip-reference" title="Kannengiesser, C., Jouanolle, A.-M., Hetet, G., Mosser, A., Muzeau, F., Henry, D., Bardou-Jacquet, E., Mornet, M., Brissot, P., Deugnier, Y., Grandchamp, B., Beaumont, C. <strong>A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of serum overload.</strong> Haematologica 94: 335-339, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19176363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19176363</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19176363[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/10.3324/haematol.2008.000125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19176363">Kannengiesser et al. (2009)</a> identified heterozygosity for a missense mutation in the FTL N terminus (T30I; <a href="#0017">134790.0017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19176363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Neurodegeneration with Brain Iron Accumulation 3</em></strong></p><p>
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<a href="#12" class="mim-tip-reference" title="Curtis, A. R. J., Fey, C., Morris, C. M., Bindoff, L. A., Ince, P. G., Chinnery, P. F., Coulthard, A., Jackson, M. J., Jackson, A. P., McHale, D. P., Hay, D., Barker, W. A., Markham, A. F., Bates, D., Curtis, A., Burn, J. <strong>Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.</strong> Nature Genet. 28: 350-354, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11438811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11438811</a>] [<a href="https://doi.org/10.1038/ng571" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11438811">Curtis et al. (2001)</a> identified an adenine insertion after nucleotide 460 of the FTL gene (<a href="#0010">134790.0010</a>) that is predicted to alter C-terminal residues of the FTL gene product in patients with neurodegeneration with brain iron accumulation-3 (NBIA3; <a href="/entry/606159">606159</a>), also known as neuroferritinopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11438811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>L-ferritin Deficiency</em></strong></p><p>
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In a healthy 52-year-old woman with low serum L-ferritin (LFTD; <a href="/entry/615604">615604</a>), <a href="#11" class="mim-tip-reference" title="Cremonesi, L., Cozzi, A., Girelli, D., Ferrari, F., Fermo, I., Foglieni, B., Levi, S., Bozzini, C., Camparini, M., Ferrari, M., Arosio, P. <strong>Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms.</strong> J. Med. Genet. 41: e81, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15173247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15173247</a>] [<a href="https://doi.org/10.1136/jmg.2003.011718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15173247">Cremonesi et al. (2004)</a> identified a heterozygous mutation in the ATG start codon of the FTL gene (M1V; <a href="#0018">134790.0018</a>), predicted to disable protein translation and expression. The findings suggested that L-ferritin has no effect on systemic iron metabolism, and suggested that haploinsufficiency of L-ferritin does not cause neurologic or hematologic clinical effects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15173247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 23-year-old woman with autosomal recessive serum L-ferritin deficiency, <a href="#10" class="mim-tip-reference" title="Cozzi, A., Santambrogio, P., Privitera, D., Broccoli, V., Rotundo, L. I., Garavaglia, B., Benz, R., Altamura, S., Goede, J. S., Muckenthaler, M. U., Levi, S. <strong>Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.</strong> J. Exp. Med. 210: 1779-1791, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23940258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23940258</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23940258[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/10.1084/jem.20130315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23940258">Cozzi et al. (2013)</a> identified a homozygous truncating mutation in the FTL gene (E104X; <a href="#0019">134790.0019</a>). The FTL gene was chosen for sequencing because the patient had undetectable serum ferritin levels. The patient had childhood generalized epilepsy, mild cognitive impairment, alopecia, and restless legs syndrome, but no hematologic abnormalities. <a href="#10" class="mim-tip-reference" title="Cozzi, A., Santambrogio, P., Privitera, D., Broccoli, V., Rotundo, L. I., Garavaglia, B., Benz, R., Altamura, S., Goede, J. S., Muckenthaler, M. U., Levi, S. <strong>Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.</strong> J. Exp. Med. 210: 1779-1791, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23940258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23940258</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23940258[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/10.1084/jem.20130315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23940258">Cozzi et al. (2013)</a> stated that this was the first patient reported with complete loss of FTL. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23940258" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The phenotype resulting from FTL mutations depends on the location of the mutation(s) within the FTL gene. In patients with the hyperferritinemia-cataract syndrome, mutations most commonly occur within the iron-response element (IRE) stem loop of the FTL mRNA, resulting in decreased affinity for iron-response protein binding and overproduction of FTL protein. This excess ferritin aggregates in the ocular lens. Patients with neurodegeneration with brain iron accumulation-3 have truncating mutations in exon 4 of the FTL gene, resulting in frameshifts and accumulation of ferritin-containing spherical inclusions in the brain and other organs. One control individual with haploinsufficiency of the FTL gene had low levels of serum ferritin, but no hematologic or neurologic abnormalities, indicating that haploinsufficiency of FTL is not pathogenic (<a href="#11" class="mim-tip-reference" title="Cremonesi, L., Cozzi, A., Girelli, D., Ferrari, F., Fermo, I., Foglieni, B., Levi, S., Bozzini, C., Camparini, M., Ferrari, M., Arosio, P. <strong>Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms.</strong> J. Med. Genet. 41: e81, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15173247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15173247</a>] [<a href="https://doi.org/10.1136/jmg.2003.011718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15173247">Cremonesi et al., 2004</a>). Finally, 1 patient with childhood idiopathic generalized epilepsy, mild neurocognitive impairment, and restless legs syndrome has been reported to have complete loss of FTL; this patient had no hematologic abnormalities (summary by <a href="#10" class="mim-tip-reference" title="Cozzi, A., Santambrogio, P., Privitera, D., Broccoli, V., Rotundo, L. I., Garavaglia, B., Benz, R., Altamura, S., Goede, J. S., Muckenthaler, M. U., Levi, S. <strong>Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.</strong> J. Exp. Med. 210: 1779-1791, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23940258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23940258</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23940258[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/10.1084/jem.20130315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23940258">Cozzi et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23940258+15173247" 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="#38" class="mim-tip-reference" title="Vidal, R., Miravalle, L., Gao, X., Barbeito, A. G., Baraibar, M. A., Hekmatyar, S. K., Widel, M., Bansal, N., Delisle, M. B., Ghetti, B. <strong>Expression of a mutant form of the ferritin light chain gene induces neurodegeneration and iron overload in transgenic mice.</strong> J. Neurosci. 28: 60-67, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18171923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18171923</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18171923[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/10.1523/JNEUROSCI.3962-07.2008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18171923">Vidal et al. (2008)</a> found that transgenic mice expressing human FTL with the 498insTC mutation (<a href="#0014">134790.0014</a>) developed histologic and behavioral features that mimicked human hereditary ferritinopathy. Expression of the transgene caused behavioral and motor dysfunction, leading to shorter life span. Histologic and immunohistochemical analysis revealed that, by 8 weeks of age, transgenic mice developed nuclear and intracytoplasmic inclusions in neurons and glia throughout the central nervous system and in postmitotic cells in most peripheral tissues. Nuclear inclusions were made up of accumulated ferric iron, detergent-insoluble ferritin, ubiquitinated proteins, and elements of the proteasome. Nuclear inclusions became enlarged and almost completely occupied the nucleus, displacing chromatin up against the nuclear membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18171923" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=134790[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs398124633 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398124633;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=rs398124633" 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=rs398124633" 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=RCV000017938 OR RCV001061778 OR RCV002274882" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017938, RCV001061778, RCV002274882" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017938...</a>
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<p>This mutation, previously designated here as c.-146A-G, is now referred to as c.-160A-G (+40A-G) (<a href="#24" class="mim-tip-reference" title="Luscieti, S., Tolle, G., Aranda, J., Campos, C. B., Risse, F., Moran, E., Muckenthaler, M. U., Sanchez, M. <strong>Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.</strong> Orphanet J. Rare Dis. 8: 30, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23421845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23421845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23421845[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/10.1186/1750-1172-8-30" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23421845">Luscieti et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23421845" 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="Beaumont, C., Leneuve, P., Devaux, I., Scoazec, J.-Y., Berthier, M., Loiseau, M.-N., Grandchamp, B., Bonneau, D. <strong>Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract.</strong> Nature Genet. 11: 444-446, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493028</a>] [<a href="https://doi.org/10.1038/ng1295-444" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493028">Beaumont et al. (1995)</a> demonstrated that affected members of a 3-generation family with autosomal dominant hyperferritinemia and cataract (HRFTC; <a href="/entry/600886">600886</a>) carried a heterozygous A-to-G transition in the iron-responsive element (IRE) of the FTL gene. The authors referred to the variant as 40A-G. Affected members presented with early-onset bilateral cataract. Slit-lamp examination demonstrated deposits of dust-like spots (pulverulent cataract) in all layers of both lens. There were no other clinical manifestations. All affected members had an elevated level of circulating ferritin with no other hematologic or biochemical abnormalities. Genetic hemochromatosis was excluded by liver biopsy which showed no iron overload but a heavy deposit of lipofuscin pigment in hepatocytes thought to be due to the accumulation of L ferritin. Affected members of the family had an A-to-G transition in the highly conserved CAGUGU motif that constitutes the IRE loop and mediates the high-affinity interaction with the iron regulatory protein (<a href="/entry/100880">100880</a>). They showed that the mutation abolished the finding of IRP in vitro and leads to a high constitutive, poorly regulated L ferritin synthesis in cultured lymphoblastoid cells established from affected patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493028" 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="#1" class="mim-tip-reference" title="Aguilar-Martinez, P., Biron, C., Masmejean, C., Jeanjean, P., Schved, J.-F. <strong>A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome. (Letter)</strong> Blood 88: 1895-1903, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8781450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8781450</a>]" pmid="8781450">Aguilar-Martinez et al. (1996)</a> identified an A-to-G transition at position 146 of the FTL gene in heterozygous state in an 8-year-old boy and his father, both of whom had hyperferritinemia and cataract. The paternal grandfather also suffered from cataract. Both parents were of French origin. The mother had normal ferritin levels and no cataract. Both this and the 147G-C mutation (<a href="#0002">134790.0002</a>) involved the 5-base sequence (CAGUG) that characterizes the loop structure of the IRE. (This A-to-G mutation appears to be the same as the A-to-G mutation reported by <a href="#2" class="mim-tip-reference" title="Beaumont, C., Leneuve, P., Devaux, I., Scoazec, J.-Y., Berthier, M., Loiseau, M.-N., Grandchamp, B., Bonneau, D. <strong>Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract.</strong> Nature Genet. 11: 444-446, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493028</a>] [<a href="https://doi.org/10.1038/ng1295-444" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493028">Beaumont et al. (1995)</a> since the IRE contains only 1 adenine residue.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7493028+8781450" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large kindred in which 11 members had hyperferritinemia-cataract syndrome, <a href="#29" class="mim-tip-reference" title="McLeod, J. L., Craig, J., Gumley, S., Roberts, S., Kirkland, M. A. <strong>Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations.</strong> Brit. J. Haemat. 118: 1179-1182, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12199804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12199804</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2002.03690.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12199804">McLeod et al. (2002)</a> identified the same mutation in the conserved CAGUG motif. They referred to the mutation as an A-to-G change at nucleotide 40. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12199804" 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=RCV000017939" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017939" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017939</a>
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<p>This mutation, previously designated here as c.-147G-C, is now referred to as c.-159G-C (+41G-C) (<a href="#24" class="mim-tip-reference" title="Luscieti, S., Tolle, G., Aranda, J., Campos, C. B., Risse, F., Moran, E., Muckenthaler, M. U., Sanchez, M. <strong>Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.</strong> Orphanet J. Rare Dis. 8: 30, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23421845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23421845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23421845[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/10.1186/1750-1172-8-30" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23421845">Luscieti et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23421845" 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 1 of 2 families with hereditary hyperferritinemia-cataract syndrome (HRFTC; <a href="/entry/600886">600886</a>) described by <a href="#20" class="mim-tip-reference" title="Girelli, D., Olivieri, O., De Franceschi, L., Corrocher, R., Bergamaschi, G., Cazzola, M. <strong>A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract.</strong> Brit. J. Haemat. 90: 931-934, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7669675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7669675</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1995.tb05218.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7669675">Girelli et al. (1995)</a>, <a href="#18" class="mim-tip-reference" title="Girelli, D., Corrocher, R., Bisceglia, L., Olivieri, O., De Franceschi, L., Zelante, L., Gasparini, P. <strong>Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: A mutation in the iron-responsive element of ferritin L-subunit gene (the 'Verona mutation').</strong> Blood 86: 4050-453, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7492760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7492760</a>]" pmid="7492760">Girelli et al. (1995)</a> found a G-to-C transversion in the third nucleotide of the CAGUG sequence in the IRE of the FTL gene. The father and 2 children were affected. Different from hereditary hemochromatosis patients, they had normal to low serum iron and transferrin saturation, and no evidence of parenchymal iron overload as assessed by liver and bone marrow biopsy. When unnecessary phlebotomies were performed, they rapidly developed iron-deficient anemia (reversed by adequate iron therapy), with persistently elevated levels of serum ferritin. The dominant inheritance and the lack of relation with HLA were further differences from hereditary hemochromatosis. <a href="#1" class="mim-tip-reference" title="Aguilar-Martinez, P., Biron, C., Masmejean, C., Jeanjean, P., Schved, J.-F. <strong>A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome. (Letter)</strong> Blood 88: 1895-1903, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8781450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8781450</a>]" pmid="8781450">Aguilar-Martinez et al. (1996)</a> stated that this mutation was located at nucleotide 147 in the 5-prime untranslated portion of the FTL gene sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7669675+8781450+7492760" 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=RCV000017940 OR RCV001380757 OR RCV001723575 OR RCV004751214" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017940, RCV001380757, RCV001723575, RCV004751214" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017940...</a>
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<p><a href="#24" class="mim-tip-reference" title="Luscieti, S., Tolle, G., Aranda, J., Campos, C. B., Risse, F., Moran, E., Muckenthaler, M. U., Sanchez, M. <strong>Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.</strong> Orphanet J. Rare Dis. 8: 30, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23421845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23421845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23421845[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/10.1186/1750-1172-8-30" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23421845">Luscieti et al. (2013)</a> referred to this mutation as c.-168G-A (+32G-A). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23421845" 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="#7" class="mim-tip-reference" title="Cazzola, M., Bergamaschi, G., Tonon, L., Arbustini, E., Grasso, M., Vercesi, E., Barosi, G., Bianchi, P. E., Cairo, G., Arosio, P. <strong>Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA.</strong> Blood 90: 814-821, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9226182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9226182</a>]" pmid="9226182">Cazzola et al. (1997)</a> studied 2 families with hyperferritinemia and congenital cataract (HRFTC; <a href="/entry/600886">600886</a>) in multiple generations in an autosomal dominant pedigree pattern. In 1 family, hereditary hemochromatosis was incorrectly diagnosed on the basis of hyperferritinemia; microcytic anemia and low serum iron developed after venesections were instituted, whereas serum ferritin levels did not change significantly. It appeared to these investigators that ferritin L-subunit synthesis was dysregulated in affected individuals. They postulated that the L-subunit gene iron-responsive element of affected individuals had a molecular lesion preventing high-affinity for an iron regulatory protein (IRP) binding and leading to overproduction of L subunits. Four affected members of family 1 were heterozygous for a point mutation in the IRE of the L-subunit: a single G-to-A transversion at nucleotide 32 in the highly conserved, 3-nucleotide motif forming the IRE bulge. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9226182" 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="Shekunov, J., de Groen, P. C., Lindor, N. M., Klee, G. G., Aleff, R. A., Wieben, E. D., Mohney, B. G. <strong>Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families.</strong> J. AAPOS 15: 356-361, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21907119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21907119</a>] [<a href="https://doi.org/10.1016/j.jaapos.2011.03.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21907119">Shekunov et al. (2011)</a> reported the 32G-A mutation in 13 members of a 5-generation Midwestern American family of German ancestry. Of these 13 members, 9 had astigmatism of greater than 1 diopter, an association not previously reported in hyperferritinemia and congenital cataract. Compared to the 32G-T mutation (<a href="#0006">134790.0006</a>) reported in another family in the report, higher ferritin levels and more severe cataracts were associated with mutation 32G-A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21907119" 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">rs886037622 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886037622;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=rs886037622" 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=rs886037622" 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">rs886037623 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886037623;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=rs886037623" 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=rs886037623" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#24" class="mim-tip-reference" title="Luscieti, S., Tolle, G., Aranda, J., Campos, C. B., Risse, F., Moran, E., Muckenthaler, M. U., Sanchez, M. <strong>Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.</strong> Orphanet J. Rare Dis. 8: 30, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23421845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23421845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23421845[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/10.1186/1750-1172-8-30" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23421845">Luscieti et al. (2013)</a> referred to these mutations as c.-182C-T (+18C-U) and c.-178T-G (+22U-G). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23421845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a family with hyperferritinemia and cataract (HRFTC; <a href="/entry/600886">600886</a>), <a href="#7" class="mim-tip-reference" title="Cazzola, M., Bergamaschi, G., Tonon, L., Arbustini, E., Grasso, M., Vercesi, E., Barosi, G., Bianchi, P. E., Cairo, G., Arosio, P. <strong>Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA.</strong> Blood 90: 814-821, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9226182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9226182</a>]" pmid="9226182">Cazzola et al. (1997)</a> found that affected members had 2 mutations on 1 allele of the FTL gene; these were stated as a 18C-U change and a 22U-G change in the lower stem of the IRE of the ferritin L-subunit gene. The proband, a 26-year-old woman, was suspected of having hereditary hyperferritinemia with congenital cataract because of a high serum ferritin with normal blood cell counts and normal serum iron and transferrin saturation. The woman had asymptomatic congenital nuclear cataract as did 2 other affected members of this pedigree, her sister and her maternal grandfather. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9226182" 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="#24" class="mim-tip-reference" title="Luscieti, S., Tolle, G., Aranda, J., Campos, C. B., Risse, F., Moran, E., Muckenthaler, M. U., Sanchez, M. <strong>Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.</strong> Orphanet J. Rare Dis. 8: 30, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23421845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23421845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23421845[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/10.1186/1750-1172-8-30" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23421845">Luscieti et al. (2013)</a> referred to this mutation as c.-190_-162del29 (+10_38del29). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23421845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a family with individuals in 3 generations affected by hyperferritinemia-cataract syndrome (HRFTC; <a href="/entry/600886">600886</a>), <a href="#19" class="mim-tip-reference" title="Girelli, D., Corrocher, R., Bisceglia, L., Olivieri, O., Zelante, L., Panozzo, G., Gasparini, P. <strong>Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene.</strong> Blood 90: 2084-2088, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9292547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9292547</a>]" pmid="9292547">Girelli et al. (1997)</a> demonstrated that the syndrome was produced by a 29-bp deletion in the IRE of the FTL gene. The deletion involved the entire 5-prime sequence essential to base pairing of the IRE stem and was predicted to cause the disruption of IRE stem-loop secondary structure and the nearly complete abolition of the negative control of ferritin synthesis by IRE/IRP binding. <a href="#17" class="mim-tip-reference" title="Girelli, D., Bozzini, C., Zecchina, G., Tinazzi, E., Bosio, S., Piperno, A., Ramenghi, U., Peters, J., Levi, S., Camaschella, C., Corrocher, R. <strong>Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome.</strong> Brit. J. Haemat. 115: 334-340, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11703332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11703332</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2001.03116.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11703332">Girelli et al. (2001)</a> provided a follow-up of this family with affected members in 4 generations in an autosomal dominant pattern. Slit-lamp photographs of the lens taken a few days before cataract surgery showed a pulverulent cataract in an 11-year-old member of the family and a sunflower cataract in his 31-year-old aunt. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9292547+11703332" 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">rs398124635 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398124635;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=rs398124635" 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=rs398124635" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#24" class="mim-tip-reference" title="Luscieti, S., Tolle, G., Aranda, J., Campos, C. B., Risse, F., Moran, E., Muckenthaler, M. U., Sanchez, M. <strong>Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.</strong> Orphanet J. Rare Dis. 8: 30, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23421845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23421845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23421845[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/10.1186/1750-1172-8-30" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23421845">Luscieti et al. (2013)</a> referred to this mutation as c.-168G-T (+32G-U). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23421845" 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="#27" class="mim-tip-reference" title="Martin, M. E., Fargion, S., Brissot, P., Pellat, B., Beaumont, C. <strong>A point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome.</strong> Blood 91: 319-323, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9414300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9414300</a>]" pmid="9414300">Martin et al. (1998)</a> described 2 families with hyperferritinemia-cataract syndrome (HRFTC; <a href="/entry/600886">600886</a>) with a novel mutation in the bulge of the IRE stem of the FTL gene and showed that this mutation alters the protein-binding affinity of the IRE in vitro to the same extent as the 2 mutations that alter adjacent nucleotides in the IRE loop, 146A-G (<a href="#0001">134790.0001</a>) and 147G-C (<a href="#0002">134790.0002</a>). They found that some variability in the age of onset of cataract can be associated with this disorder, probably because of additional genetic or environmental factors that modulate the penetrance of the FTL defect in the lens. They confirmed that the patients did not have increased iron stores despite the persistence of elevated serum ferritin levels and that, accordingly, they do not tolerate venesection therapy well. In the 2 families, affected members were heterozygous for a G-to-T transition in the bulge of the IRE. The mutation abrogated the basepairing between G32 and C50, which might be necessary for the proper conformation of the IRE. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9414300" 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="Shekunov, J., de Groen, P. C., Lindor, N. M., Klee, G. G., Aleff, R. A., Wieben, E. D., Mohney, B. G. <strong>Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families.</strong> J. AAPOS 15: 356-361, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21907119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21907119</a>] [<a href="https://doi.org/10.1016/j.jaapos.2011.03.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21907119">Shekunov et al. (2011)</a> reported the 32G-T mutation in a 5-generation Midwestern American family of British and German/Austrian ancestry. Nine affected members also had astigmatism of greater than 1 diopter, an association not previously reported in hyperferritinemia-cataract syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21907119" 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">rs398124636 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398124636;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=rs398124636" 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=rs398124636" 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=RCV000017944 OR RCV001036071 OR RCV002482882 OR RCV004597729" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017944, RCV001036071, RCV002482882, RCV004597729" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017944...</a>
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<p><a href="#24" class="mim-tip-reference" title="Luscieti, S., Tolle, G., Aranda, J., Campos, C. B., Risse, F., Moran, E., Muckenthaler, M. U., Sanchez, M. <strong>Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.</strong> Orphanet J. Rare Dis. 8: 30, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23421845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23421845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23421845[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/10.1186/1750-1172-8-30" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23421845">Luscieti et al. (2013)</a> referred to this mutation as c.-161C-T (+39C-U). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23421845" 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="#30" class="mim-tip-reference" title="Mumford, A. D., Vulliamy, T., Lindsay, J., Watson, A. <strong>Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element. (Letter)</strong> Blood 91: 367-368, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9414313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9414313</a>]" pmid="9414313">Mumford et al. (1998)</a> described mutations in 2 English families with hereditary hyperferritinemia-cataract syndrome (HRFTC; <a href="/entry/600886">600886</a>). The proband of one family was heterozygous for a point mutation that corresponded to a +39 C-to-U substitution in the L-ferritin mRNA. The second family carried a heterozygous point mutation corresponding to a +36 C-to-A transversion in the L-ferritin mRNA (<a href="#0008">134790.0008</a>). The proband in the latter family was investigated for anemia, detected at one of her regular sessions to give blood for transfusion. She had had surgical extraction of premature cataracts, as had 8 other family members. Her son required cataract extraction at 5 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9414313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="McLeod, J. L., Craig, J., Gumley, S., Roberts, S., Kirkland, M. A. <strong>Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations.</strong> Brit. J. Haemat. 118: 1179-1182, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12199804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12199804</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2002.03690.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12199804">McLeod et al. (2002)</a> identified the same mutation in affected members of an Australian family originating from Italy. The proband was a 45-year-old man with a history of bilateral cataracts and hyperferritinemia in the absence of iron overload. His 11-year-old son had been followed for congenital cataracts since the age of 5 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12199804" 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">rs398124637 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398124637;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=rs398124637" 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=rs398124637" 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=RCV000017945 OR RCV000817309" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017945, RCV000817309" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017945...</a>
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<p><a href="#24" class="mim-tip-reference" title="Luscieti, S., Tolle, G., Aranda, J., Campos, C. B., Risse, F., Moran, E., Muckenthaler, M. U., Sanchez, M. <strong>Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.</strong> Orphanet J. Rare Dis. 8: 30, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23421845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23421845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23421845[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/10.1186/1750-1172-8-30" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23421845">Luscieti et al. (2013)</a> referred to this mutation as c.-164C-A (+36C-A). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23421845" 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="#30" class="mim-tip-reference" title="Mumford, A. D., Vulliamy, T., Lindsay, J., Watson, A. <strong>Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element. (Letter)</strong> Blood 91: 367-368, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9414313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9414313</a>]" pmid="9414313">Mumford et al. (1998)</a> described mutations in 2 English families with hereditary hyperferritinemia-cataract syndrome (HRFTC; <a href="/entry/600886">600886</a>). The proband of one family was heterozygous for a point mutation that corresponded to a +39 C-to-U substitution (<a href="#0007">134790.0007</a>) in the L-ferritin mRNA. The second family carried a heterozygous point mutation corresponding to a +36 C-to-A transversion in the L-ferritin mRNA. The proband in the latter family was investigated for anemia, detected at one of her regular sessions to give blood for transfusion. She had had surgical extraction of premature cataracts, as had 8 other family members. Her son required cataract extraction at 5 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9414313" 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">rs398124638 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398124638;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=rs398124638" 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=rs398124638" 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=RCV000017946 OR RCV002482883 OR RCV003764586" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017946, RCV002482883, RCV003764586" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017946...</a>
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<p><a href="#24" class="mim-tip-reference" title="Luscieti, S., Tolle, G., Aranda, J., Campos, C. B., Risse, F., Moran, E., Muckenthaler, M. U., Sanchez, M. <strong>Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.</strong> Orphanet J. Rare Dis. 8: 30, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23421845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23421845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23421845[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/10.1186/1750-1172-8-30" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23421845">Luscieti et al. (2013)</a> referred to this mutation as c.-149G-C (+51G-C). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23421845" 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 members of a Canadian family with moderate increase in serum ferritin and clinically silent bilateral cataract (HRFTC; <a href="/entry/600886">600886</a>), <a href="#4" class="mim-tip-reference" title="Camaschella, C., Zecchina, G., Lockitch, G., Roetto, A., Campanella, A., Arosio, P., Levi, S. <strong>A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins.</strong> Brit. J. Haemat. 108: 480-482, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10759702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10759702</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2000.01920.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10759702">Camaschella et al. (2000)</a> identified a 51G-C mutation in the IRE of the FTL gene. Father and daughter were affected. In this instance, binding of the mutated IRE to iron regulatory proteins was reduced, compared with wildtype. Structural modeling predicted that 51G-C induces a rearrangement of basepairing at the lateral bulge of the IRE structure that is likely to modify IRE conformation. Of significance is the fact that cataracts were asymptomatic in both the father and the 15-year-old daughter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10759702" 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="#16" class="mim-tip-reference" title="Giansily-Blaizot, M., Cunat, S., Moulis, G., Schved, J.-F., Aguilar-Martinez, P. <strong>Homozygous mutation of the 5-prime UTR region of the L-ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype. (Letter)</strong> Haematologica 98: e42, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23300176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23300176</a>] [<a href="https://doi.org/10.3324/haematol.2012.077198" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23300176">Giansily-Blaizot et al. (2013)</a> reported a 54-year-old woman of Canadian descent with hyperferritinemia and cataracts who was found to carry a homozygous +51G-C mutation in the FTL gene. Several family members, including both possibly consanguineous parents and 2 sibs, had visual impairment or known cataracts, but these individuals were not available for examination. Homozygous mutations are very unusual in this disorder, but the patient's phenotype was similar to that of heterozygous mutation carriers. <a href="#16" class="mim-tip-reference" title="Giansily-Blaizot, M., Cunat, S., Moulis, G., Schved, J.-F., Aguilar-Martinez, P. <strong>Homozygous mutation of the 5-prime UTR region of the L-ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype. (Letter)</strong> Haematologica 98: e42, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23300176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23300176</a>] [<a href="https://doi.org/10.3324/haematol.2012.077198" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23300176">Giansily-Blaizot et al. (2013)</a> speculated that the mutation, which does not occur at the highly conserved region in the bulge or upper stem of the iron response element of the FTL gene, may have milder effects than other mutations, even in the homozygous state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23300176" 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>In a large family segregating an autosomal dominant basal ganglia disease, known as neurodegeneration with brain iron accumulation-3 or neuroferritinopathy (NBIA3; <a href="/entry/606159">606159</a>), and in 5 additional individuals with similar manifestations, <a href="#12" class="mim-tip-reference" title="Curtis, A. R. J., Fey, C., Morris, C. M., Bindoff, L. A., Ince, P. G., Chinnery, P. F., Coulthard, A., Jackson, M. J., Jackson, A. P., McHale, D. P., Hay, D., Barker, W. A., Markham, A. F., Bates, D., Curtis, A., Burn, J. <strong>Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.</strong> Nature Genet. 28: 350-354, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11438811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11438811</a>] [<a href="https://doi.org/10.1038/ng571" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11438811">Curtis et al. (2001)</a> identified an adenine insertion after nucleotide 460 of the FTL gene, which was predicted to alter the 22 C-terminal residues of the gene product and extend the chain by 4 additional residues. The mutation is predicted to disrupt the end of the D helix, the DE loop, and the E helix. Residues of the E helix form hydrophobic channels in the ferritin 4-fold axes of symmetry, are highly conserved, and are essential for iron core formation. This mutation was not identified in over 300 Cumbrian controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11438811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Although <a href="#9" class="mim-tip-reference" title="Chinnery, P. F., Curtis, A. R. J., Fey, C., Coulthard, A., Crompton, D., Curtis, A., Lombes, A., Burn, J. <strong>Neuroferritinopathy in a French family with late onset dominant dystonia.</strong> J. Med. Genet. 40: e69, 2003. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12746423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12746423</a>] [<a href="https://doi.org/10.1136/jmg.40.5.e69" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12746423">Chinnery et al. (2003)</a> reported that they identified the 460insA mutation in affected members of a French family with neuroferritinopathy, <a href="#13" class="mim-tip-reference" title="Devos, D., Tchofo, P. J., Vuillaume, I., Destee, A., Batey, S., Burn, J., Chinnery, P. F. <strong>Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. (Letter)</strong> Brain 132: e109, 2009. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18854324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18854324</a>] [<a href="https://doi.org/10.1093/brain/awn274" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18854324">Devos et al. (2009)</a> concluded that the mutation in that family was actually a 458insA change (<a href="#0016">134790.0016</a>). Both mutations create the same EcoN1 restriction site. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12746423+18854324" 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">rs398124639 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398124639;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=rs398124639" 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=rs398124639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#24" class="mim-tip-reference" title="Luscieti, S., Tolle, G., Aranda, J., Campos, C. B., Risse, F., Moran, E., Muckenthaler, M. U., Sanchez, M. <strong>Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.</strong> Orphanet J. Rare Dis. 8: 30, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23421845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23421845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23421845[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/10.1186/1750-1172-8-30" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23421845">Luscieti et al. (2013)</a> referred to this mutation as c.-178_-173del6 (+22_27del6). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23421845" 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="#8" class="mim-tip-reference" title="Cazzola, M., Foglieni, B., Bergamaschi, G., Levi, S., Lazzarino, M., Arosio, P. <strong>A novel deletion of the L-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome.</strong> Brit. J. Haemat. 116: 667-670, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11849230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11849230</a>] [<a href="https://doi.org/10.1046/j.0007-1048.2001.03310.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11849230">Cazzola et al. (2002)</a> described an Italian family in which elevated serum ferritin and early-onset severe bilateral cataract (HRFTC; <a href="/entry/600886">600886</a>) were associated with a 6-bp deletion in the iron-responsive element of the FTL gene. The deletion occurred in a TCT repetition and may have occurred through a mechanism of slippage mispairing. The mutation could be interpreted as deletion 22-27, 23-28, 24-29, or 25-30. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11849230" 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=RCV000017949 OR RCV002513089 OR RCV003231107 OR RCV004751215" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017949, RCV002513089, RCV003231107, RCV004751215" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017949...</a>
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<p><a href="#24" class="mim-tip-reference" title="Luscieti, S., Tolle, G., Aranda, J., Campos, C. B., Risse, F., Moran, E., Muckenthaler, M. U., Sanchez, M. <strong>Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.</strong> Orphanet J. Rare Dis. 8: 30, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23421845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23421845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23421845[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/10.1186/1750-1172-8-30" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23421845">Luscieti et al. (2013)</a> referred to this mutation as c.-168G-C (+32G-C). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23421845" 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 family with hyperferritinemia-cataract syndrome (HRFTC; <a href="/entry/600886">600886</a>), <a href="#5" class="mim-tip-reference" title="Campagnoli, M. F., Pimazzoni, R., Bosio, S., Zecchina, G., DeGobbi, M., Bosso, P., Oldani, B., Ramenghi, U. <strong>Onset of cataract in early infancy associated with a 32G-C transition in the iron responsive element of L-ferritin.</strong> Europ. J. Pediat. 161: 499-502, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12200611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12200611</a>] [<a href="https://doi.org/10.1007/s00431-002-1019-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12200611">Campagnoli et al. (2002)</a> identified a heterozygous 32G-C transversion in the FTL gene. The authors noted that 2 other mutations had been described at nucleotide 32 (32G-A; <a href="#0003">134790.0003</a> and 32G-T; <a href="#0006">134790.0006</a>), which is in the IRE bulge structure. Two sisters in the last generation of the family developed cataracts at age 18 months, earlier than most reported cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12200611" 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> rs104894685 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894685;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/rs104894685?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=rs104894685" 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=rs104894685" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 19-year-old man with parkinsonism, ataxia, and corticospinal signs consistent with neuroferritinopathy (NBIA3; <a href="/entry/606159">606159</a>), <a href="#25" class="mim-tip-reference" title="Maciel, P., Cruz, V. T., Constante, M., Iniesta, I., Costa, M. C., Gallati, S., Sousa, N., Sequeiros, J., Coutinho, P., Santos, M. M. <strong>Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.</strong> Neurology 65: 603-605, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116125</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16116125[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/10.1212/01.wnl.0000178224.81169.c2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16116125">Maciel et al. (2005)</a> identified a heterozygous 474G-A transition in the FTL gene, resulting in an ala96-to-thr (A96T) substitution in a conserved residue of the protein. His asymptomatic mother and 13-year-old brother also carried the mutation. MRI showed bilateral pallidal necrosis in the patient and his mother, and all 3 mutation carriers had decreased serum ferritin. The patient also had mild nonprogressive cognitive deficit and episodic psychosis, which may have been unrelated since a noncarrying uncle had schizophrenia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116125" 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">rs1114167274 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1114167274;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=rs1114167274" 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=rs1114167274" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a large French family with neuroferritinopathy (NBIA3; <a href="/entry/606159">606159</a>), <a href="#37" class="mim-tip-reference" title="Vidal, R., Ghetti, B., Takao, M., Brefel-Courbon, C., Uro-Coste, E., Glazier, B. S., Siani, V., Benson, M. D., Calvas, P., Miravalle, L., Rascol, O., Delisle, M. B. <strong>Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene.</strong> J. Neuropath. Exp. Neurol. 63: 363-380, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15099026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15099026</a>] [<a href="https://doi.org/10.1093/jnen/63.4.363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15099026">Vidal et al. (2004)</a> identified a heterozygous 2-bp insertion (498_499insTC) in exon 4 of the FTL gene, resulting in the addition of 16 residues at the C terminus predicted to cause loss of the C-terminal secondary structure. The phenotype was characterized by onset in the third decade of progressive parkinsonism, cerebellar ataxia, pyramidal signs, and cognitive decline. Neuropathologic analysis showed ferritin-containing inclusion bodies in neurons and glia throughout the brain, as well as in some extraneuronal tissues. <a href="#37" class="mim-tip-reference" title="Vidal, R., Ghetti, B., Takao, M., Brefel-Courbon, C., Uro-Coste, E., Glazier, B. S., Siani, V., Benson, M. D., Calvas, P., Miravalle, L., Rascol, O., Delisle, M. B. <strong>Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene.</strong> J. Neuropath. Exp. Neurol. 63: 363-380, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15099026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15099026</a>] [<a href="https://doi.org/10.1093/jnen/63.4.363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15099026">Vidal et al. (2004)</a> noted that the findings were consistent with a hypothesis that mutant FTL may not be able to store iron appropriately, causing an accumulation of intracellular iron and mutant FTL polypeptides. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15099026" 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">rs398124640 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398124640;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=rs398124640" 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=rs398124640" 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=RCV000017952" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017952" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017952</a>
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<p>In a Japanese mother and son with neuroferritinopathy (NBIA3; <a href="/entry/606159">606159</a>), <a href="#32" class="mim-tip-reference" title="Ohta, E., Nagasaka, T., Shindo, K., Toma, S., Nagasaka, K., Ohta, K., Shiozawa, Z. <strong>Neuroferritinopathy in a Japanese family with a duplication in the ferritin light chain gene.</strong> Neurology 70: 1493-1494, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18413574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18413574</a>] [<a href="https://doi.org/10.1212/01.wnl.0000310428.74624.95" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18413574">Ohta et al. (2008)</a> identified a heterozygous 16-bp duplication (469_484dup) in exon 4 of the FTL gene, resulting in the replacement of the 14 C-terminal residues with a novel 23-amino acid sequence. The son developed hand tremors in his mid-teens and foot dragging at age 35. By age 42, he had generalized hypotonia, hyperextensibility, unsteady gait, aphonia, micrographia, hyperreflexia, and cognitive impairment. Rigidity, spasticity, dystonia, an chorea were not observed. His mother had hand tremors at age 10 and difficulty walking at age 35, developed cognitive impairment and akinetic mutism, and died at age 64. Brain imaging in both patients showed symmetric cystic changes in the basal ganglia. The son had hyperintense lesions in the basal ganglia and substantia nigra on MRI. <a href="#32" class="mim-tip-reference" title="Ohta, E., Nagasaka, T., Shindo, K., Toma, S., Nagasaka, K., Ohta, K., Shiozawa, Z. <strong>Neuroferritinopathy in a Japanese family with a duplication in the ferritin light chain gene.</strong> Neurology 70: 1493-1494, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18413574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18413574</a>] [<a href="https://doi.org/10.1212/01.wnl.0000310428.74624.95" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18413574">Ohta et al. (2008)</a> suggested that the mutant FTL protein was unable to retain iron, which was released in the nervous system, causing oxidative damage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18413574" 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">rs587776840 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776840;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=rs587776840" 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=rs587776840" 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=RCV000017953" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017953" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017953</a>
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<p>In affected members of a French family with neuroferritinopathy (NBIA3; <a href="/entry/606159">606159</a>), <a href="#13" class="mim-tip-reference" title="Devos, D., Tchofo, P. J., Vuillaume, I., Destee, A., Batey, S., Burn, J., Chinnery, P. F. <strong>Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. (Letter)</strong> Brain 132: e109, 2009. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18854324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18854324</a>] [<a href="https://doi.org/10.1093/brain/awn274" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18854324">Devos et al. (2009)</a> identified a 1-bp duplication (458dupA) in the FTL gene. The patients developed symptoms between 24 and 44 years of age. Presenting features included dystonia, causing writing difficulties or a gait disorder, followed by rapid progression to orofacial, pharyngeal, and laryngeal dystonia. L-DOPA was not effective. None developed spasticity, abnormal reflexes, or marked tremor. Three deceased family members developed cerebellar ataxia. All developed a moderate subcortical/frontal dementia. Other atypical features included a limitation of vertical eye movements and mild dysautonomia, including orthostatic hypotension, constipation, and urinary incontinence. Brain imaging showed iron deposition and cystic cavitation of the basal ganglia. Serum ferritin levels were decreased. The family had originally been thought to carry a different FTL mutation (460insA; <a href="#0010">134790.0010</a>) (<a href="#9" class="mim-tip-reference" title="Chinnery, P. F., Curtis, A. R. J., Fey, C., Coulthard, A., Crompton, D., Curtis, A., Lombes, A., Burn, J. <strong>Neuroferritinopathy in a French family with late onset dominant dystonia.</strong> J. Med. Genet. 40: e69, 2003. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12746423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12746423</a>] [<a href="https://doi.org/10.1136/jmg.40.5.e69" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12746423">Chinnery et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12746423+18854324" 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> rs397514540 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514540;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/rs397514540?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=rs397514540" 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=rs397514540" 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=RCV000032783" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032783" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032783</a>
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<p>In 17 unrelated patients with hyperferritinemia (HRFTC; <a href="/entry/600886">600886</a>), 1 of whom had bilateral cataract, <a href="#22" class="mim-tip-reference" title="Kannengiesser, C., Jouanolle, A.-M., Hetet, G., Mosser, A., Muzeau, F., Henry, D., Bardou-Jacquet, E., Mornet, M., Brissot, P., Deugnier, Y., Grandchamp, B., Beaumont, C. <strong>A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of serum overload.</strong> Haematologica 94: 335-339, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19176363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19176363</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19176363[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/10.3324/haematol.2008.000125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19176363">Kannengiesser et al. (2009)</a> identified heterozygosity for an 89C-T transition in the FTL gene, resulting in a thr30-to-ile (T30I) substitution at a highly conserved residue in the N-terminal 'A' alpha helix. Cosegregation analysis in 10 families carrying the T30I mutation showed that the mutation was present in 20 affected relatives but was absent in 10 relatives with normal serum ferritin levels; the mutation was also absent in 528 control individuals. There were significant fluctuations in serum ferritin levels, both over time in a given individual and between affected individuals within the same family. No characteristic clinical symptoms were found in the 37 affected individuals carrying the mutation, although 4 complained of joint pain and 3 of asthenia. Serum ferritin hyperglycosylation ranging from 90 to 99% (normal range, 50 to 80%) was observed in 9 mutation-positive individuals tested. <a href="#22" class="mim-tip-reference" title="Kannengiesser, C., Jouanolle, A.-M., Hetet, G., Mosser, A., Muzeau, F., Henry, D., Bardou-Jacquet, E., Mornet, M., Brissot, P., Deugnier, Y., Grandchamp, B., Beaumont, C. <strong>A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of serum overload.</strong> Haematologica 94: 335-339, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19176363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19176363</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19176363[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/10.3324/haematol.2008.000125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19176363">Kannengiesser et al. (2009)</a> hypothesized that the mutation might increase the efficacy of L-ferritin secretion by increasing the hydrophobicity of the N-terminal 'A' alpha helix. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19176363" 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>.0018 L-FERRITIN DEFICIENCY, AUTOSOMAL DOMINANT</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> rs139732572 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs139732572;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/rs139732572?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=rs139732572" 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=rs139732572" 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=RCV000082857 OR RCV001857397 OR RCV003884347 OR RCV004586545" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000082857, RCV001857397, RCV003884347, RCV004586545" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000082857...</a>
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<p>In a 52-year-old woman with decreased serum L-ferritin (LFTD; <a href="/entry/615604">615604</a>), <a href="#11" class="mim-tip-reference" title="Cremonesi, L., Cozzi, A., Girelli, D., Ferrari, F., Fermo, I., Foglieni, B., Levi, S., Bozzini, C., Camparini, M., Ferrari, M., Arosio, P. <strong>Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms.</strong> J. Med. Genet. 41: e81, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15173247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15173247</a>] [<a href="https://doi.org/10.1136/jmg.2003.011718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15173247">Cremonesi et al. (2004)</a> identified a heterozygous c.1A-G transition in the initiation codon of the FTL gene, resulting in a met1-to-val (M1V) substitution. The mutation was predicted to disable protein translation and expression. The woman was a control subject in a genetic study of hyperferritinemia-cataract syndrome and had no history of iron deficiency anemia or neurologic dysfunction. These findings suggested that L-ferritin has no effect on systemic iron metabolism, and also indicated that haploinsufficiency of L-ferritin does not cause clinical hematologic or neurologic abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15173247" 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> rs199869995 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199869995;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/rs199869995?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=rs199869995" 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=rs199869995" 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=RCV000082858 OR RCV002513857" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000082858, RCV002513857" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000082858...</a>
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<p>In a 23-year-old Italian woman with serum L-ferritin deficiency (LFTD; <a href="/entry/615604">615604</a>), <a href="#10" class="mim-tip-reference" title="Cozzi, A., Santambrogio, P., Privitera, D., Broccoli, V., Rotundo, L. I., Garavaglia, B., Benz, R., Altamura, S., Goede, J. S., Muckenthaler, M. U., Levi, S. <strong>Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.</strong> J. Exp. Med. 210: 1779-1791, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23940258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23940258</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23940258[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/10.1084/jem.20130315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23940258">Cozzi et al. (2013)</a> identified a homozygous c.310G-T transversion in exon 3 of the FTL gene, resulting in a glu104-to-ter (E104X) substitution in the middle of alpha-helix C, resulting in a truncated protein unable to fold into a full ferritin cage. The FTL gene was chosen for sequencing because the patient had undetectable serum levels of ferritin. There was no FTL protein in patient fibroblasts, although mRNA levels were similar to controls. The patient had childhood idiopathic generalized epilepsy that later resolved, mild cognitive impairment, and restless legs syndrome. Patient cells showed normal FTH (<a href="/entry/134770">134770</a>) expression, with increased iron incorporation into H homopolymer ferritin compared to controls. This was associated with a 4-fold decrease of the labile iron pool in patient cells. Expression of wildtype FTL ameliorated these cellular defects. E104X fibroblasts showed additional abnormalities, including increased turnover of H homopolymer ferritin and increased production of reactive oxygen species, as well as increased cellular toxicity compared to controls. Reprogrammed neurons from patient fibroblasts also showed increased reactive oxygen species as well as iron deficiency. <a href="#10" class="mim-tip-reference" title="Cozzi, A., Santambrogio, P., Privitera, D., Broccoli, V., Rotundo, L. I., Garavaglia, B., Benz, R., Altamura, S., Goede, J. S., Muckenthaler, M. U., Levi, S. <strong>Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.</strong> J. Exp. Med. 210: 1779-1791, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23940258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23940258</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23940258[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/10.1084/jem.20130315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23940258">Cozzi et al. (2013)</a> stated that this was the first patient reported with complete loss of FTL, but noted that the phenotype could result either from a loss of FTL function or a gain of function via altered activity of the FTH homopolymer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23940258" 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">rs398124637 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398124637;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=rs398124637" 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=rs398124637" 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=RCV000082859" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000082859" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000082859</a>
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<p>In affected members of a Spanish family with hyperferritinemia with or without cataract (HRFTC; <a href="/entry/600886">600886</a>), <a href="#24" class="mim-tip-reference" title="Luscieti, S., Tolle, G., Aranda, J., Campos, C. B., Risse, F., Moran, E., Muckenthaler, M. U., Sanchez, M. <strong>Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.</strong> Orphanet J. Rare Dis. 8: 30, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23421845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23421845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23421845[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/10.1186/1750-1172-8-30" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23421845">Luscieti et al. (2013)</a> identified a c.-164C-T transition in the FTL gene, resulting in a +36C-U change in the upper stem of the IRE. In vitro studies showed that the mutation caused a mild reduction in the binding of iron regulatory proteins. The proband, who was born of consanguineous parents, was a 54-year-old woman with a 10-year history of hyperferritinemia and cataracts since 18 years of age. She had no signs of iron overload; serum iron, transferrin saturation, and liver functional tests were normal. A sister and cousin had a similar disorder. Family history revealed an affected deceased uncle and an affected deceased father. The proband's deceased mother was never diagnosed with cataracts, but had severe myopia. Three children of the proband and her sister also showed signs of the disorder. The proband and her sister were found to be homozygous for the mutation, whereas the affected children and the cousin were heterozygous for the mutation. The individuals with the homozygous mutations were not significantly more affected than heterozygotes. The report indicated that genotype/phenotype correlations in this disorder are difficult to establish due to inter- and intraindividual variability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23421845" 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="#Dorner1985" class="mim-tip-reference" title="Dorner, M. H., Salfeld, J., Will, H., Leibold, E. A., Vass, J. K., Munro, H. N. <strong>Structure of human ferritin light subunit messenger RNA: comparison with heavy subunit message and functional implications.</strong> Proc. Nat. Acad. Sci. 82: 3139-3143, 1985.">Dorner et al. (1985)</a>
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<strong>A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome. (Letter)</strong>
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Blood 88: 1895-1903, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8781450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8781450</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8781450" 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.80.5.1265" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.80.2.482" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.2003.011718" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00388458" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21907119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21907119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21907119" 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/j.jaapos.2011.03.020" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="36" class="mim-anchor"></a>
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<a id="Shi2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shi, H., Bencze, K. Z., Stemmler, T. L., Philpott, C. C.
|
|
<strong>A cytosolic iron chaperone that delivers iron to ferritin.</strong>
|
|
Science 320: 1207-1210, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18511687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18511687</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18511687[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=18511687" 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/10.1126/science.1157643" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="37" class="mim-anchor"></a>
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<a id="Vidal2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vidal, R., Ghetti, B., Takao, M., Brefel-Courbon, C., Uro-Coste, E., Glazier, B. S., Siani, V., Benson, M. D., Calvas, P., Miravalle, L., Rascol, O., Delisle, M. B.
|
|
<strong>Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene.</strong>
|
|
J. Neuropath. Exp. Neurol. 63: 363-380, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15099026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15099026</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15099026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/jnen/63.4.363" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="38" class="mim-anchor"></a>
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<a id="Vidal2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vidal, R., Miravalle, L., Gao, X., Barbeito, A. G., Baraibar, M. A., Hekmatyar, S. K., Widel, M., Bansal, N., Delisle, M. B., Ghetti, B.
|
|
<strong>Expression of a mutant form of the ferritin light chain gene induces neurodegeneration and iron overload in transgenic mice.</strong>
|
|
J. Neurosci. 28: 60-67, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18171923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18171923</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18171923[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=18171923" 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/10.1523/JNEUROSCI.3962-07.2008" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="39" class="mim-anchor"></a>
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<a id="Watanabe1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Watanabe, N., Drysdale, J. W.
|
|
<strong>Evidence for distinct mRNAs for ferritin subunits.</strong>
|
|
Biochem. Biophys. Res. Commun. 98: 507-511, 1981.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6111999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6111999</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6111999" 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/10.1016/0006-291x(81)90869-x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="40" class="mim-anchor"></a>
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<a id="Worwood1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Worwood, M., Brook, J. D., Cragg, S. J., Hellkuhl, B., Jones, B. M., Perera, P., Roberts, S. H., Shaw, D. J.
|
|
<strong>Assignment of human ferritin genes to chromosomes 11 and 19q13.3-19qter.</strong>
|
|
Hum. Genet. 69: 371-374, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3857215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3857215</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3857215" 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/BF00291657" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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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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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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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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Ada Hamosh - updated : 05/28/2014
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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 : 1/15/2014<br>Patricia A. Hartz - updated : 11/6/2013<br>Marla J. F. O'Neill - updated : 2/1/2013<br>Jane Kelly - updated : 2/18/2012<br>Cassandra L. Kniffin - updated : 2/19/2010<br>Ada Hamosh - updated : 6/10/2008<br>Cassandra L. Kniffin - updated : 10/31/2005<br>Cassandra L. Kniffin - updated : 7/13/2004<br>Victor A. McKusick - updated : 10/21/2002<br>Victor A. McKusick - updated : 5/13/2002<br>Victor A. McKusick - updated : 1/24/2002<br>Ada Hamosh - updated : 7/30/2001<br>Victor A. McKusick - updated : 7/13/2000<br>Victor A. McKusick - updated : 4/10/1998<br>Victor A. McKusick - updated : 3/25/1998<br>Victor A. McKusick - updated : 1/21/1998<br>Victor A. McKusick - updated : 10/29/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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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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Victor A. McKusick : 6/4/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
|
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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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carol : 01/08/2018
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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carol : 10/19/2017<br>carol : 07/19/2017<br>carol : 05/30/2017<br>carol : 08/11/2016<br>alopez : 05/28/2014<br>mcolton : 2/21/2014<br>carol : 1/15/2014<br>carol : 1/15/2014<br>ckniffin : 1/15/2014<br>mgross : 12/6/2013<br>mcolton : 11/6/2013<br>alopez : 2/1/2013<br>alopez : 2/18/2012<br>wwang : 6/10/2011<br>carol : 3/1/2010<br>ckniffin : 2/19/2010<br>alopez : 6/12/2008<br>terry : 6/10/2008<br>terry : 12/17/2007<br>wwang : 11/3/2005<br>ckniffin : 10/31/2005<br>carol : 7/13/2004<br>ckniffin : 7/13/2004<br>tkritzer : 3/19/2003<br>carol : 3/13/2003<br>carol : 10/24/2002<br>tkritzer : 10/21/2002<br>tkritzer : 10/21/2002<br>alopez : 5/21/2002<br>terry : 5/13/2002<br>carol : 2/6/2002<br>carol : 2/6/2002<br>mcapotos : 2/4/2002<br>terry : 1/24/2002<br>carol : 12/10/2001<br>alopez : 7/30/2001<br>terry : 7/30/2001<br>carol : 7/14/2000<br>terry : 7/13/2000<br>carol : 4/10/1998<br>alopez : 3/30/1998<br>terry : 3/25/1998<br>mark : 1/25/1998<br>terry : 1/21/1998<br>mark : 11/3/1997<br>terry : 10/29/1997<br>alopez : 7/29/1997<br>mark : 6/14/1997<br>mark : 6/14/1997<br>terry : 4/11/1997<br>terry : 2/6/1997<br>mark : 12/16/1996<br>terry : 11/13/1996<br>terry : 2/6/1996<br>mark : 1/22/1996<br>joanna : 1/17/1996<br>joanna : 1/17/1996<br>mark : 12/7/1995<br>terry : 12/7/1995<br>terry : 12/7/1995<br>mark : 11/7/1995<br>mimadm : 9/24/1994<br>carol : 3/26/1992<br>supermim : 3/16/1992<br>carol : 12/19/1990<br>supermim : 3/20/1990
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</span>
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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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<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">
|
|
<strong>*</strong> 134790
|
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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>
|
|
<span class="mim-font">
|
|
|
|
FERRITIN LIGHT CHAIN; FTL
|
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|
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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-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: FTL</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> 699299001, 702398007;
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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>
|
|
<em>
|
|
Cytogenetic location: 19q13.33
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 19:48,965,309-48,966,879 </span>
|
|
</em>
|
|
</strong>
|
|
<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">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
19q13.33
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Hyperferritinemia-cataract syndrome
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
600886
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
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</tr>
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|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
L-ferritin deficiency, dominant and recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
615604
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant; Autosomal recessive
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</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">
|
|
Neurodegeneration with brain iron accumulation 3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
606159
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
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|
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</tbody>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
<span class="mim-text-font">
|
|
<p>The iron storage protein ferritin is a complex of 24 L-ferritin (FTL) and H-ferritin (FTH1; 134770) subunits in ratios that vary in different cell types. FTH subunits exhibit ferroxidase activity, converting Fe(2+) to Fe(3+), so that iron may be stored in the ferritin mineral core, which prevents undesirable reactions of Fe(2+) with oxygen. FTL subunits are devoid of catalytic activity but are thought to facilitate nucleation and mineralization of the iron center (summary by Sammarco et al., 2008). </p>
|
|
</span>
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<div>
|
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<br />
|
|
</div>
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<div>
|
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<h4>
|
|
<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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<span class="mim-text-font">
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<p>Studies of ferritin synthesis in cell-free systems by Watanabe and Drysdale (1981) suggested that the H and L subunits in human and rat are derived from different mRNA molecules. </p><p>Brown et al. (1983) noted that mammalian liver and spleen ferritin (relative mass about 450 kD) consists of 24 subunits of 2 species, the heavy subunit (relative mass, 21 kD) and the light subunit (relative mass, 19 kD). They presented evidence that, in rat, the 2 subunits are coded by separate mRNAs and that a family of genes encodes the light subunit. </p><p>Cazzola et al. (1997) stated that the human ferritin L chain contains 174 residues and has an apparent molecular mass of 19 kD. They found that serum ferritin, with an apparent molecular mass of 23 kD, was a glycosylated form of intracellular ferritin L chain. </p><p>Curtis et al. (2001) reported that the human ferritin light chain contains 175 residues and that the peptide folds into 5 alpha-helical domains designated A through E. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By study of human/Chinese hamster hybrid cells and use of a radioimmunoassay specific for human ferritin, Caskey et al. (1983) showed that chromosome 19 encodes the structural gene for ferritin. By in situ hybridization, McGill et al. (1984) confirmed the assignment of the light chain gene to chromosome 19 but concluded that the heavy chain is encoded by 1p. By study of hamster-human and mouse-human hybrid cells, some with translocations involving chromosome 19, Worwood et al. (1985) concluded that light subunits of ferritin (rich in human spleen ferritin) are coded by a gene in segment 19q13.3-qter and that the gene for the heavy subunit (rich in human heart ferritin) is located on chromosome 11. By miniaturized restriction enzyme analysis of sorted chromosomes, Lebo et al. (1985) demonstrated ferritin light-chain genes on at least 3 chromosomes. </p><p>Munro et al. (1988) reviewed information on the ferritin genes. They pointed out that in both the rat and the human, several ferritin pseudogenes can be recognized not only because they are flanked by 5-prime and 3-prime direct repeats representing the site of their retroinsertion into the chromatin, but also because they differ from functional genes by the absence of introns and by the presence of polyadenylic acid tails that have been inserted onto the 3-prime end of the messenger transcription of the functional gene. They cited the evidence of Santoro et al. (1986) and of Hentze et al. (1986) that there is only one expressed H and one expressed L gene in the human genome. </p><p>By typing the progeny of 2 sets of genetic crosses, Filie et al. (1998) determined the map location of loci containing sequences related to the ferritin light chain gene in the mouse. Twelve loci were positioned on 11 different chromosomes. One of these genes mapped to a position on chromosome 7 predicted to contain the expressed Flt1 gene on the basis of the previously determined position of the human homolog on 19q13.3-q13.4. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Human ferritins expressed in yeast normally contain little iron, which led Shi et al. (2008) to hypothesize that yeast, which do not express ferritins, might also lack the requisite iron chaperones needed for delivery of iron to ferritin. In a genetic screen to identify human genes that, when expressed in yeast, could increase the amount of iron loaded into ferritin, Shi et al. (2008) identified poly(rC) binding protein-1 (PCBP1; 601209). PCBP1 bound to ferritin in vivo, and bound iron and facilitated iron loading into ferritin in vitro. Depletion of PCBP1 in human cells inhibited ferritin iron loading and increased cytosolic iron pools. Thus, Shi et al. (2008) concluded that PCBP1 can function as a cytosolic iron chaperone in the delivery of iron to ferritin. </p><p>Using reporter genes expressed in HEK293 cells, Sammarco et al. (2008) determined that expression of both FTL and FTH increased in the presence of excess iron under normoxic culture conditions (20% oxygen). However, expression of FTL, but not FTH, increased in the presence of excess iron under hypoxic culture conditions (1% oxygen). Sammarco et al. (2008) concluded that expression of FTL and FTH are differentially regulated. </p><p>Mancias et al. (2014) used quantitative proteomics to identify a cohort of novel and known autophagosome-enriched proteins, including cargo receptors, in human cells. Like known cargo receptors, nuclear receptor coactivator-4 (NCOA4; 601984) was highly enriched in autophagosomes, and associated with autophagy-8 (ATG8)-related proteins that recruit cargo-receptor complexes into autophagosomes (see, e.g., GABARAPL2, 607452). Unbiased identification of NCOA4-associated proteins revealed ferritin heavy chain (see FTH1, 134770) and FTL, components of an iron-filled cage structure that protects cells from reactive iron species but is degraded via autophagy to release iron. Mancias et al. (2014) found that delivery of ferritin to lysosomes required NCOA4, and an inability of NCOA4-deficient cells to degrade ferritin led to decreased bioavailable intracellular iron. Mancias et al. (2014) concluded that their work identified NCOA4 as a selective cargo receptor for autophagic turnover of ferritin (ferritinophagy), which is critical for iron homeostasis, and provided a resource for further dissection of autophagosomal cargo-receptor connectivity. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Hyperferritinemia with or without Cataract</em></strong></p><p>
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Beaumont et al. (1995) identified a mutation in the iron-responsive element (IRE) in the 5-prime noncoding region of the FTL gene (134790.0001) in the hyperferritinemia-cataract syndrome (HRFTC; 600886). </p><p>Camaschella et al. (2000) reported a father and daughter with only modest hyperferritinemia and subclinical cataract in whom they identified a mutation in the IRE of FTL (51G-C; 134790.0009). </p><p>In 17 unrelated patients with hyperferritinemia, 1 of whom had bilateral cataract, Kannengiesser et al. (2009) identified heterozygosity for a missense mutation in the FTL N terminus (T30I; 134790.0017). </p><p><strong><em>Neurodegeneration with Brain Iron Accumulation 3</em></strong></p><p>
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Curtis et al. (2001) identified an adenine insertion after nucleotide 460 of the FTL gene (134790.0010) that is predicted to alter C-terminal residues of the FTL gene product in patients with neurodegeneration with brain iron accumulation-3 (NBIA3; 606159), also known as neuroferritinopathy. </p><p><strong><em>L-ferritin Deficiency</em></strong></p><p>
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In a healthy 52-year-old woman with low serum L-ferritin (LFTD; 615604), Cremonesi et al. (2004) identified a heterozygous mutation in the ATG start codon of the FTL gene (M1V; 134790.0018), predicted to disable protein translation and expression. The findings suggested that L-ferritin has no effect on systemic iron metabolism, and suggested that haploinsufficiency of L-ferritin does not cause neurologic or hematologic clinical effects. </p><p>In a 23-year-old woman with autosomal recessive serum L-ferritin deficiency, Cozzi et al. (2013) identified a homozygous truncating mutation in the FTL gene (E104X; 134790.0019). The FTL gene was chosen for sequencing because the patient had undetectable serum ferritin levels. The patient had childhood generalized epilepsy, mild cognitive impairment, alopecia, and restless legs syndrome, but no hematologic abnormalities. Cozzi et al. (2013) stated that this was the first patient reported with complete loss of FTL. </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>The phenotype resulting from FTL mutations depends on the location of the mutation(s) within the FTL gene. In patients with the hyperferritinemia-cataract syndrome, mutations most commonly occur within the iron-response element (IRE) stem loop of the FTL mRNA, resulting in decreased affinity for iron-response protein binding and overproduction of FTL protein. This excess ferritin aggregates in the ocular lens. Patients with neurodegeneration with brain iron accumulation-3 have truncating mutations in exon 4 of the FTL gene, resulting in frameshifts and accumulation of ferritin-containing spherical inclusions in the brain and other organs. One control individual with haploinsufficiency of the FTL gene had low levels of serum ferritin, but no hematologic or neurologic abnormalities, indicating that haploinsufficiency of FTL is not pathogenic (Cremonesi et al., 2004). Finally, 1 patient with childhood idiopathic generalized epilepsy, mild neurocognitive impairment, and restless legs syndrome has been reported to have complete loss of FTL; this patient had no hematologic abnormalities (summary by Cozzi et al., 2013). </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>Vidal et al. (2008) found that transgenic mice expressing human FTL with the 498insTC mutation (134790.0014) developed histologic and behavioral features that mimicked human hereditary ferritinopathy. Expression of the transgene caused behavioral and motor dysfunction, leading to shorter life span. Histologic and immunohistochemical analysis revealed that, by 8 weeks of age, transgenic mice developed nuclear and intracytoplasmic inclusions in neurons and glia throughout the central nervous system and in postmitotic cells in most peripheral tissues. Nuclear inclusions were made up of accumulated ferric iron, detergent-insoluble ferritin, ubiquitinated proteins, and elements of the proteasome. Nuclear inclusions became enlarged and almost completely occupied the nucleus, displacing chromatin up against the nuclear membrane. </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>20 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 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT</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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FTL, -160A-G
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<br />
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SNP: rs398124633,
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ClinVar: RCV000017938, RCV001061778, RCV002274882
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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>This mutation, previously designated here as c.-146A-G, is now referred to as c.-160A-G (+40A-G) (Luscieti et al., 2013). </p><p>Beaumont et al. (1995) demonstrated that affected members of a 3-generation family with autosomal dominant hyperferritinemia and cataract (HRFTC; 600886) carried a heterozygous A-to-G transition in the iron-responsive element (IRE) of the FTL gene. The authors referred to the variant as 40A-G. Affected members presented with early-onset bilateral cataract. Slit-lamp examination demonstrated deposits of dust-like spots (pulverulent cataract) in all layers of both lens. There were no other clinical manifestations. All affected members had an elevated level of circulating ferritin with no other hematologic or biochemical abnormalities. Genetic hemochromatosis was excluded by liver biopsy which showed no iron overload but a heavy deposit of lipofuscin pigment in hepatocytes thought to be due to the accumulation of L ferritin. Affected members of the family had an A-to-G transition in the highly conserved CAGUGU motif that constitutes the IRE loop and mediates the high-affinity interaction with the iron regulatory protein (100880). They showed that the mutation abolished the finding of IRP in vitro and leads to a high constitutive, poorly regulated L ferritin synthesis in cultured lymphoblastoid cells established from affected patients. </p><p>Aguilar-Martinez et al. (1996) identified an A-to-G transition at position 146 of the FTL gene in heterozygous state in an 8-year-old boy and his father, both of whom had hyperferritinemia and cataract. The paternal grandfather also suffered from cataract. Both parents were of French origin. The mother had normal ferritin levels and no cataract. Both this and the 147G-C mutation (134790.0002) involved the 5-base sequence (CAGUG) that characterizes the loop structure of the IRE. (This A-to-G mutation appears to be the same as the A-to-G mutation reported by Beaumont et al. (1995) since the IRE contains only 1 adenine residue.) </p><p>In a large kindred in which 11 members had hyperferritinemia-cataract syndrome, McLeod et al. (2002) identified the same mutation in the conserved CAGUG motif. They referred to the mutation as an A-to-G change at nucleotide 40. </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 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT</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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FTL, -159G-C
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<br />
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SNP: rs398124634,
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ClinVar: RCV000017939
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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>This mutation, previously designated here as c.-147G-C, is now referred to as c.-159G-C (+41G-C) (Luscieti et al., 2013). </p><p>In 1 of 2 families with hereditary hyperferritinemia-cataract syndrome (HRFTC; 600886) described by Girelli et al. (1995), Girelli et al. (1995) found a G-to-C transversion in the third nucleotide of the CAGUG sequence in the IRE of the FTL gene. The father and 2 children were affected. Different from hereditary hemochromatosis patients, they had normal to low serum iron and transferrin saturation, and no evidence of parenchymal iron overload as assessed by liver and bone marrow biopsy. When unnecessary phlebotomies were performed, they rapidly developed iron-deficient anemia (reversed by adequate iron therapy), with persistently elevated levels of serum ferritin. The dominant inheritance and the lack of relation with HLA were further differences from hereditary hemochromatosis. Aguilar-Martinez et al. (1996) stated that this mutation was located at nucleotide 147 in the 5-prime untranslated portion of the FTL gene sequence. </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 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT</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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FTL, -168G-A
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<br />
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SNP: rs398124635,
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ClinVar: RCV000017940, RCV001380757, RCV001723575, RCV004751214
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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>Luscieti et al. (2013) referred to this mutation as c.-168G-A (+32G-A). </p><p>Cazzola et al. (1997) studied 2 families with hyperferritinemia and congenital cataract (HRFTC; 600886) in multiple generations in an autosomal dominant pedigree pattern. In 1 family, hereditary hemochromatosis was incorrectly diagnosed on the basis of hyperferritinemia; microcytic anemia and low serum iron developed after venesections were instituted, whereas serum ferritin levels did not change significantly. It appeared to these investigators that ferritin L-subunit synthesis was dysregulated in affected individuals. They postulated that the L-subunit gene iron-responsive element of affected individuals had a molecular lesion preventing high-affinity for an iron regulatory protein (IRP) binding and leading to overproduction of L subunits. Four affected members of family 1 were heterozygous for a point mutation in the IRE of the L-subunit: a single G-to-A transversion at nucleotide 32 in the highly conserved, 3-nucleotide motif forming the IRE bulge. </p><p>Shekunov et al. (2011) reported the 32G-A mutation in 13 members of a 5-generation Midwestern American family of German ancestry. Of these 13 members, 9 had astigmatism of greater than 1 diopter, an association not previously reported in hyperferritinemia and congenital cataract. Compared to the 32G-T mutation (134790.0006) reported in another family in the report, higher ferritin levels and more severe cataracts were associated with mutation 32G-A. </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 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT</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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FTL, -182C-T AND -178T-G
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<br />
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SNP: rs886037622, rs886037623,
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ClinVar: RCV000017941, RCV003479167
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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>Luscieti et al. (2013) referred to these mutations as c.-182C-T (+18C-U) and c.-178T-G (+22U-G). </p><p>In a family with hyperferritinemia and cataract (HRFTC; 600886), Cazzola et al. (1997) found that affected members had 2 mutations on 1 allele of the FTL gene; these were stated as a 18C-U change and a 22U-G change in the lower stem of the IRE of the ferritin L-subunit gene. The proband, a 26-year-old woman, was suspected of having hereditary hyperferritinemia with congenital cataract because of a high serum ferritin with normal blood cell counts and normal serum iron and transferrin saturation. The woman had asymptomatic congenital nuclear cataract as did 2 other affected members of this pedigree, her sister and her maternal grandfather. </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>.0005 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT</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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FTL, 29-BP DEL, NT-190
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<br />
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SNP: rs1555796939,
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ClinVar: RCV000017942
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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>Luscieti et al. (2013) referred to this mutation as c.-190_-162del29 (+10_38del29). </p><p>In a family with individuals in 3 generations affected by hyperferritinemia-cataract syndrome (HRFTC; 600886), Girelli et al. (1997) demonstrated that the syndrome was produced by a 29-bp deletion in the IRE of the FTL gene. The deletion involved the entire 5-prime sequence essential to base pairing of the IRE stem and was predicted to cause the disruption of IRE stem-loop secondary structure and the nearly complete abolition of the negative control of ferritin synthesis by IRE/IRP binding. Girelli et al. (2001) provided a follow-up of this family with affected members in 4 generations in an autosomal dominant pattern. Slit-lamp photographs of the lens taken a few days before cataract surgery showed a pulverulent cataract in an 11-year-old member of the family and a sunflower cataract in his 31-year-old aunt. </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>.0006 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT</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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FTL, -168G-T
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<br />
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SNP: rs398124635,
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ClinVar: RCV000017943, RCV001093251, RCV001386171, RCV003398536
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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>Luscieti et al. (2013) referred to this mutation as c.-168G-T (+32G-U). </p><p>Martin et al. (1998) described 2 families with hyperferritinemia-cataract syndrome (HRFTC; 600886) with a novel mutation in the bulge of the IRE stem of the FTL gene and showed that this mutation alters the protein-binding affinity of the IRE in vitro to the same extent as the 2 mutations that alter adjacent nucleotides in the IRE loop, 146A-G (134790.0001) and 147G-C (134790.0002). They found that some variability in the age of onset of cataract can be associated with this disorder, probably because of additional genetic or environmental factors that modulate the penetrance of the FTL defect in the lens. They confirmed that the patients did not have increased iron stores despite the persistence of elevated serum ferritin levels and that, accordingly, they do not tolerate venesection therapy well. In the 2 families, affected members were heterozygous for a G-to-T transition in the bulge of the IRE. The mutation abrogated the basepairing between G32 and C50, which might be necessary for the proper conformation of the IRE. </p><p>Shekunov et al. (2011) reported the 32G-T mutation in a 5-generation Midwestern American family of British and German/Austrian ancestry. Nine affected members also had astigmatism of greater than 1 diopter, an association not previously reported in hyperferritinemia-cataract syndrome. </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>.0007 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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FTL, -161C-T
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|
<br />
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|
|
SNP: rs398124636,
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|
ClinVar: RCV000017944, RCV001036071, RCV002482882, RCV004597729
|
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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>Luscieti et al. (2013) referred to this mutation as c.-161C-T (+39C-U). </p><p>Mumford et al. (1998) described mutations in 2 English families with hereditary hyperferritinemia-cataract syndrome (HRFTC; 600886). The proband of one family was heterozygous for a point mutation that corresponded to a +39 C-to-U substitution in the L-ferritin mRNA. The second family carried a heterozygous point mutation corresponding to a +36 C-to-A transversion in the L-ferritin mRNA (134790.0008). The proband in the latter family was investigated for anemia, detected at one of her regular sessions to give blood for transfusion. She had had surgical extraction of premature cataracts, as had 8 other family members. Her son required cataract extraction at 5 years of age. </p><p>McLeod et al. (2002) identified the same mutation in affected members of an Australian family originating from Italy. The proband was a 45-year-old man with a history of bilateral cataracts and hyperferritinemia in the absence of iron overload. His 11-year-old son had been followed for congenital cataracts since the age of 5 years. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0008 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT</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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FTL, -164C-A
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<br />
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SNP: rs398124637,
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ClinVar: RCV000017945, RCV000817309
|
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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">
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|
<p>Luscieti et al. (2013) referred to this mutation as c.-164C-A (+36C-A). </p><p>Mumford et al. (1998) described mutations in 2 English families with hereditary hyperferritinemia-cataract syndrome (HRFTC; 600886). The proband of one family was heterozygous for a point mutation that corresponded to a +39 C-to-U substitution (134790.0007) in the L-ferritin mRNA. The second family carried a heterozygous point mutation corresponding to a +36 C-to-A transversion in the L-ferritin mRNA. The proband in the latter family was investigated for anemia, detected at one of her regular sessions to give blood for transfusion. She had had surgical extraction of premature cataracts, as had 8 other family members. Her son required cataract extraction at 5 years of age. </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>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
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<span class="mim-text-font">
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FTL, -149G-C
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<br />
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|
|
SNP: rs398124638,
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|
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|
|
ClinVar: RCV000017946, RCV002482883, RCV003764586
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Luscieti et al. (2013) referred to this mutation as c.-149G-C (+51G-C). </p><p>In 2 members of a Canadian family with moderate increase in serum ferritin and clinically silent bilateral cataract (HRFTC; 600886), Camaschella et al. (2000) identified a 51G-C mutation in the IRE of the FTL gene. Father and daughter were affected. In this instance, binding of the mutated IRE to iron regulatory proteins was reduced, compared with wildtype. Structural modeling predicted that 51G-C induces a rearrangement of basepairing at the lateral bulge of the IRE structure that is likely to modify IRE conformation. Of significance is the fact that cataracts were asymptomatic in both the father and the 15-year-old daughter. </p><p>Giansily-Blaizot et al. (2013) reported a 54-year-old woman of Canadian descent with hyperferritinemia and cataracts who was found to carry a homozygous +51G-C mutation in the FTL gene. Several family members, including both possibly consanguineous parents and 2 sibs, had visual impairment or known cataracts, but these individuals were not available for examination. Homozygous mutations are very unusual in this disorder, but the patient's phenotype was similar to that of heterozygous mutation carriers. Giansily-Blaizot et al. (2013) speculated that the mutation, which does not occur at the highly conserved region in the bulge or upper stem of the iron response element of the FTL gene, may have milder effects than other mutations, even in the homozygous state. </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>.0010 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
FTL, 1-BP INS, 460A
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|
<br />
|
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|
|
SNP: rs2122436083,
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|
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|
|
|
ClinVar: RCV002269810, RCV003096106
|
|
|
|
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a large family segregating an autosomal dominant basal ganglia disease, known as neurodegeneration with brain iron accumulation-3 or neuroferritinopathy (NBIA3; 606159), and in 5 additional individuals with similar manifestations, Curtis et al. (2001) identified an adenine insertion after nucleotide 460 of the FTL gene, which was predicted to alter the 22 C-terminal residues of the gene product and extend the chain by 4 additional residues. The mutation is predicted to disrupt the end of the D helix, the DE loop, and the E helix. Residues of the E helix form hydrophobic channels in the ferritin 4-fold axes of symmetry, are highly conserved, and are essential for iron core formation. This mutation was not identified in over 300 Cumbrian controls. </p><p>Although Chinnery et al. (2003) reported that they identified the 460insA mutation in affected members of a French family with neuroferritinopathy, Devos et al. (2009) concluded that the mutation in that family was actually a 458insA change (134790.0016). Both mutations create the same EcoN1 restriction site. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
FTL, 6-BP DEL, NT-178
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|
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|
|
|
<br />
|
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|
|
SNP: rs398124639,
|
|
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|
|
|
|
|
ClinVar: RCV000017948
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Luscieti et al. (2013) referred to this mutation as c.-178_-173del6 (+22_27del6). </p><p>Cazzola et al. (2002) described an Italian family in which elevated serum ferritin and early-onset severe bilateral cataract (HRFTC; 600886) were associated with a 6-bp deletion in the iron-responsive element of the FTL gene. The deletion occurred in a TCT repetition and may have occurred through a mechanism of slippage mispairing. The mutation could be interpreted as deletion 22-27, 23-28, 24-29, or 25-30. </p>
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|
</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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|
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|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FTL, -168G-C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398124635,
|
|
|
|
|
|
|
|
ClinVar: RCV000017949, RCV002513089, RCV003231107, RCV004751215
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Luscieti et al. (2013) referred to this mutation as c.-168G-C (+32G-C). </p><p>In affected members of a family with hyperferritinemia-cataract syndrome (HRFTC; 600886), Campagnoli et al. (2002) identified a heterozygous 32G-C transversion in the FTL gene. The authors noted that 2 other mutations had been described at nucleotide 32 (32G-A; 134790.0003 and 32G-T; 134790.0006), which is in the IRE bulge structure. Two sisters in the last generation of the family developed cataracts at age 18 months, earlier than most reported cases. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FTL, ALA96THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894685,
|
|
|
|
|
|
gnomAD: rs104894685,
|
|
|
|
|
|
ClinVar: RCV000017950
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 19-year-old man with parkinsonism, ataxia, and corticospinal signs consistent with neuroferritinopathy (NBIA3; 606159), Maciel et al. (2005) identified a heterozygous 474G-A transition in the FTL gene, resulting in an ala96-to-thr (A96T) substitution in a conserved residue of the protein. His asymptomatic mother and 13-year-old brother also carried the mutation. MRI showed bilateral pallidal necrosis in the patient and his mother, and all 3 mutation carriers had decreased serum ferritin. The patient also had mild nonprogressive cognitive deficit and episodic psychosis, which may have been unrelated since a noncarrying uncle had schizophrenia. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FTL, 2-BP INS, 498TC
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1114167274,
|
|
|
|
|
|
|
|
ClinVar: RCV000017951
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large French family with neuroferritinopathy (NBIA3; 606159), Vidal et al. (2004) identified a heterozygous 2-bp insertion (498_499insTC) in exon 4 of the FTL gene, resulting in the addition of 16 residues at the C terminus predicted to cause loss of the C-terminal secondary structure. The phenotype was characterized by onset in the third decade of progressive parkinsonism, cerebellar ataxia, pyramidal signs, and cognitive decline. Neuropathologic analysis showed ferritin-containing inclusion bodies in neurons and glia throughout the brain, as well as in some extraneuronal tissues. Vidal et al. (2004) noted that the findings were consistent with a hypothesis that mutant FTL may not be able to store iron appropriately, causing an accumulation of intracellular iron and mutant FTL polypeptides. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FTL, 16-BP DUP, NT469
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398124640,
|
|
|
|
|
|
|
|
ClinVar: RCV000017952
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese mother and son with neuroferritinopathy (NBIA3; 606159), Ohta et al. (2008) identified a heterozygous 16-bp duplication (469_484dup) in exon 4 of the FTL gene, resulting in the replacement of the 14 C-terminal residues with a novel 23-amino acid sequence. The son developed hand tremors in his mid-teens and foot dragging at age 35. By age 42, he had generalized hypotonia, hyperextensibility, unsteady gait, aphonia, micrographia, hyperreflexia, and cognitive impairment. Rigidity, spasticity, dystonia, an chorea were not observed. His mother had hand tremors at age 10 and difficulty walking at age 35, developed cognitive impairment and akinetic mutism, and died at age 64. Brain imaging in both patients showed symmetric cystic changes in the basal ganglia. The son had hyperintense lesions in the basal ganglia and substantia nigra on MRI. Ohta et al. (2008) suggested that the mutant FTL protein was unable to retain iron, which was released in the nervous system, causing oxidative damage. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FTL, 1-BP DUP, 458A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587776840,
|
|
|
|
|
|
|
|
ClinVar: RCV000017953
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a French family with neuroferritinopathy (NBIA3; 606159), Devos et al. (2009) identified a 1-bp duplication (458dupA) in the FTL gene. The patients developed symptoms between 24 and 44 years of age. Presenting features included dystonia, causing writing difficulties or a gait disorder, followed by rapid progression to orofacial, pharyngeal, and laryngeal dystonia. L-DOPA was not effective. None developed spasticity, abnormal reflexes, or marked tremor. Three deceased family members developed cerebellar ataxia. All developed a moderate subcortical/frontal dementia. Other atypical features included a limitation of vertical eye movements and mild dysautonomia, including orthostatic hypotension, constipation, and urinary incontinence. Brain imaging showed iron deposition and cystic cavitation of the basal ganglia. Serum ferritin levels were decreased. The family had originally been thought to carry a different FTL mutation (460insA; 134790.0010) (Chinnery et al., 2003). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FTL, THR30ILE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514540,
|
|
|
|
|
|
gnomAD: rs397514540,
|
|
|
|
|
|
ClinVar: RCV000032783
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 17 unrelated patients with hyperferritinemia (HRFTC; 600886), 1 of whom had bilateral cataract, Kannengiesser et al. (2009) identified heterozygosity for an 89C-T transition in the FTL gene, resulting in a thr30-to-ile (T30I) substitution at a highly conserved residue in the N-terminal 'A' alpha helix. Cosegregation analysis in 10 families carrying the T30I mutation showed that the mutation was present in 20 affected relatives but was absent in 10 relatives with normal serum ferritin levels; the mutation was also absent in 528 control individuals. There were significant fluctuations in serum ferritin levels, both over time in a given individual and between affected individuals within the same family. No characteristic clinical symptoms were found in the 37 affected individuals carrying the mutation, although 4 complained of joint pain and 3 of asthenia. Serum ferritin hyperglycosylation ranging from 90 to 99% (normal range, 50 to 80%) was observed in 9 mutation-positive individuals tested. Kannengiesser et al. (2009) hypothesized that the mutation might increase the efficacy of L-ferritin secretion by increasing the hydrophobicity of the N-terminal 'A' alpha helix. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 L-FERRITIN DEFICIENCY, 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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FTL, MET1VAL
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<br />
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SNP: rs139732572,
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gnomAD: rs139732572,
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ClinVar: RCV000082857, RCV001857397, RCV003884347, RCV004586545
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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 52-year-old woman with decreased serum L-ferritin (LFTD; 615604), Cremonesi et al. (2004) identified a heterozygous c.1A-G transition in the initiation codon of the FTL gene, resulting in a met1-to-val (M1V) substitution. The mutation was predicted to disable protein translation and expression. The woman was a control subject in a genetic study of hyperferritinemia-cataract syndrome and had no history of iron deficiency anemia or neurologic dysfunction. These findings suggested that L-ferritin has no effect on systemic iron metabolism, and also indicated that haploinsufficiency of L-ferritin does not cause clinical hematologic or neurologic abnormalities. </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>.0019 L-FERRITIN DEFICIENCY, AUTOSOMAL RECESSIVE</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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FTL, GLU104TER
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<br />
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SNP: rs199869995,
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gnomAD: rs199869995,
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ClinVar: RCV000082858, RCV002513857
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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 23-year-old Italian woman with serum L-ferritin deficiency (LFTD; 615604), Cozzi et al. (2013) identified a homozygous c.310G-T transversion in exon 3 of the FTL gene, resulting in a glu104-to-ter (E104X) substitution in the middle of alpha-helix C, resulting in a truncated protein unable to fold into a full ferritin cage. The FTL gene was chosen for sequencing because the patient had undetectable serum levels of ferritin. There was no FTL protein in patient fibroblasts, although mRNA levels were similar to controls. The patient had childhood idiopathic generalized epilepsy that later resolved, mild cognitive impairment, and restless legs syndrome. Patient cells showed normal FTH (134770) expression, with increased iron incorporation into H homopolymer ferritin compared to controls. This was associated with a 4-fold decrease of the labile iron pool in patient cells. Expression of wildtype FTL ameliorated these cellular defects. E104X fibroblasts showed additional abnormalities, including increased turnover of H homopolymer ferritin and increased production of reactive oxygen species, as well as increased cellular toxicity compared to controls. Reprogrammed neurons from patient fibroblasts also showed increased reactive oxygen species as well as iron deficiency. Cozzi et al. (2013) stated that this was the first patient reported with complete loss of FTL, but noted that the phenotype could result either from a loss of FTL function or a gain of function via altered activity of the FTH homopolymer. </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 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT</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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FTL, -164C-T
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<br />
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SNP: rs398124637,
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ClinVar: RCV000082859
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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 Spanish family with hyperferritinemia with or without cataract (HRFTC; 600886), Luscieti et al. (2013) identified a c.-164C-T transition in the FTL gene, resulting in a +36C-U change in the upper stem of the IRE. In vitro studies showed that the mutation caused a mild reduction in the binding of iron regulatory proteins. The proband, who was born of consanguineous parents, was a 54-year-old woman with a 10-year history of hyperferritinemia and cataracts since 18 years of age. She had no signs of iron overload; serum iron, transferrin saturation, and liver functional tests were normal. A sister and cousin had a similar disorder. Family history revealed an affected deceased uncle and an affected deceased father. The proband's deceased mother was never diagnosed with cataracts, but had severe myopia. Three children of the proband and her sister also showed signs of the disorder. The proband and her sister were found to be homozygous for the mutation, whereas the affected children and the cousin were heterozygous for the mutation. The individuals with the homozygous mutations were not significantly more affected than heterozygotes. The report indicated that genotype/phenotype correlations in this disorder are difficult to establish due to inter- and intraindividual variability. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
|
Dorner et al. (1985)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>REFERENCES</strong>
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</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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<ol>
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<li>
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<p class="mim-text-font">
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Aguilar-Martinez, P., Biron, C., Masmejean, C., Jeanjean, P., Schved, J.-F.
|
|
<strong>A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome. (Letter)</strong>
|
|
Blood 88: 1895-1903, 1996.
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[PubMed: 8781450]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Beaumont, C., Leneuve, P., Devaux, I., Scoazec, J.-Y., Berthier, M., Loiseau, M.-N., Grandchamp, B., Bonneau, D.
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|
<strong>Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract.</strong>
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|
Nature Genet. 11: 444-446, 1995.
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[PubMed: 7493028]
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[Full Text: https://doi.org/10.1038/ng1295-444]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Brown, A. J. P., Leibold, E. A., Munro, H. N.
|
|
<strong>Isolation of cDNA clones for the light subunit of rat liver ferritin: evidence that the light subunit is encoded by a multigene family.</strong>
|
|
Proc. Nat. Acad. Sci. 80: 1265-1269, 1983.
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[PubMed: 6187009]
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[Full Text: https://doi.org/10.1073/pnas.80.5.1265]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Camaschella, C., Zecchina, G., Lockitch, G., Roetto, A., Campanella, A., Arosio, P., Levi, S.
|
|
<strong>A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins.</strong>
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|
Brit. J. Haemat. 108: 480-482, 2000.
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[PubMed: 10759702]
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[Full Text: https://doi.org/10.1046/j.1365-2141.2000.01920.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Campagnoli, M. F., Pimazzoni, R., Bosio, S., Zecchina, G., DeGobbi, M., Bosso, P., Oldani, B., Ramenghi, U.
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|
<strong>Onset of cataract in early infancy associated with a 32G-C transition in the iron responsive element of L-ferritin.</strong>
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Europ. J. Pediat. 161: 499-502, 2002.
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[PubMed: 12200611]
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[Full Text: https://doi.org/10.1007/s00431-002-1019-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Caskey, J. H., Jones, C., Miller, Y. E., Seligman, P. A.
|
|
<strong>Human ferritin gene is assigned to chromosome 19.</strong>
|
|
Proc. Nat. Acad. Sci. 80: 482-486, 1983.
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|
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|
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[PubMed: 6572903]
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[Full Text: https://doi.org/10.1073/pnas.80.2.482]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Cazzola, M., Bergamaschi, G., Tonon, L., Arbustini, E., Grasso, M., Vercesi, E., Barosi, G., Bianchi, P. E., Cairo, G., Arosio, P.
|
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<strong>Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA.</strong>
|
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Blood 90: 814-821, 1997.
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[PubMed: 9226182]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Cazzola, M., Foglieni, B., Bergamaschi, G., Levi, S., Lazzarino, M., Arosio, P.
|
|
<strong>A novel deletion of the L-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome.</strong>
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Brit. J. Haemat. 116: 667-670, 2002.
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[PubMed: 11849230]
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[Full Text: https://doi.org/10.1046/j.0007-1048.2001.03310.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Chinnery, P. F., Curtis, A. R. J., Fey, C., Coulthard, A., Crompton, D., Curtis, A., Lombes, A., Burn, J.
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<strong>Neuroferritinopathy in a French family with late onset dominant dystonia.</strong>
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J. Med. Genet. 40: e69, 2003. Note: Electronic Article.
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[PubMed: 12746423]
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[Full Text: https://doi.org/10.1136/jmg.40.5.e69]
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</p>
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<li>
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<p class="mim-text-font">
|
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Cozzi, A., Santambrogio, P., Privitera, D., Broccoli, V., Rotundo, L. I., Garavaglia, B., Benz, R., Altamura, S., Goede, J. S., Muckenthaler, M. U., Levi, S.
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|
<strong>Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.</strong>
|
|
J. Exp. Med. 210: 1779-1791, 2013.
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[PubMed: 23940258]
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[Full Text: https://doi.org/10.1084/jem.20130315]
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</p>
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<li>
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<p class="mim-text-font">
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|
Cremonesi, L., Cozzi, A., Girelli, D., Ferrari, F., Fermo, I., Foglieni, B., Levi, S., Bozzini, C., Camparini, M., Ferrari, M., Arosio, P.
|
|
<strong>Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms.</strong>
|
|
J. Med. Genet. 41: e81, 2004. Note: Electronic Article.
|
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[PubMed: 15173247]
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[Full Text: https://doi.org/10.1136/jmg.2003.011718]
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</p>
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<li>
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<p class="mim-text-font">
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Curtis, A. R. J., Fey, C., Morris, C. M., Bindoff, L. A., Ince, P. G., Chinnery, P. F., Coulthard, A., Jackson, M. J., Jackson, A. P., McHale, D. P., Hay, D., Barker, W. A., Markham, A. F., Bates, D., Curtis, A., Burn, J.
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<strong>Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.</strong>
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|
Nature Genet. 28: 350-354, 2001.
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[PubMed: 11438811]
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[Full Text: https://doi.org/10.1038/ng571]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Devos, D., Tchofo, P. J., Vuillaume, I., Destee, A., Batey, S., Burn, J., Chinnery, P. F.
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<strong>Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. (Letter)</strong>
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Brain 132: e109, 2009. Note: Electronic Article.
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[PubMed: 18854324]
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[Full Text: https://doi.org/10.1093/brain/awn274]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Dorner, M. H., Salfeld, J., Will, H., Leibold, E. A., Vass, J. K., Munro, H. N.
|
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<strong>Structure of human ferritin light subunit messenger RNA: comparison with heavy subunit message and functional implications.</strong>
|
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Proc. Nat. Acad. Sci. 82: 3139-3143, 1985.
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[PubMed: 3858810]
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[Full Text: https://doi.org/10.1073/pnas.82.10.3139]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Filie, J. D., Buckler, C. E., Kozak, C. A.
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<strong>Genetic mapping of the mouse ferritin light chain gene and 11 pseudogenes on 11 mouse chromosomes.</strong>
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Mammalian Genome 9: 111-113, 1998.
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[PubMed: 9457670]
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[Full Text: https://doi.org/10.1007/s003359900699]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Giansily-Blaizot, M., Cunat, S., Moulis, G., Schved, J.-F., Aguilar-Martinez, P.
|
|
<strong>Homozygous mutation of the 5-prime UTR region of the L-ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype. (Letter)</strong>
|
|
Haematologica 98: e42, 2013. Note: Electronic Article.
|
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|
[PubMed: 23300176]
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[Full Text: https://doi.org/10.3324/haematol.2012.077198]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Girelli, D., Bozzini, C., Zecchina, G., Tinazzi, E., Bosio, S., Piperno, A., Ramenghi, U., Peters, J., Levi, S., Camaschella, C., Corrocher, R.
|
|
<strong>Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome.</strong>
|
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Brit. J. Haemat. 115: 334-340, 2001.
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|
[PubMed: 11703332]
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[Full Text: https://doi.org/10.1046/j.1365-2141.2001.03116.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Girelli, D., Corrocher, R., Bisceglia, L., Olivieri, O., De Franceschi, L., Zelante, L., Gasparini, P.
|
|
<strong>Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: A mutation in the iron-responsive element of ferritin L-subunit gene (the 'Verona mutation').</strong>
|
|
Blood 86: 4050-453, 1995.
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|
|
[PubMed: 7492760]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Girelli, D., Corrocher, R., Bisceglia, L., Olivieri, O., Zelante, L., Panozzo, G., Gasparini, P.
|
|
<strong>Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene.</strong>
|
|
Blood 90: 2084-2088, 1997.
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|
|
[PubMed: 9292547]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Girelli, D., Olivieri, O., De Franceschi, L., Corrocher, R., Bergamaschi, G., Cazzola, M.
|
|
<strong>A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract.</strong>
|
|
Brit. J. Haemat. 90: 931-934, 1995.
|
|
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|
|
[PubMed: 7669675]
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[Full Text: https://doi.org/10.1111/j.1365-2141.1995.tb05218.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hentze, M. W., Keim, S., Papadopoulos, P., O'Brien, S., Modi, W., Drysdale, J., Leonard, W. J., Harford, J. B., Klausner, R. D.
|
|
<strong>Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 7226-7230, 1986.
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|
|
|
[PubMed: 3020541]
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[Full Text: https://doi.org/10.1073/pnas.83.19.7226]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Kannengiesser, C., Jouanolle, A.-M., Hetet, G., Mosser, A., Muzeau, F., Henry, D., Bardou-Jacquet, E., Mornet, M., Brissot, P., Deugnier, Y., Grandchamp, B., Beaumont, C.
|
|
<strong>A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of serum overload.</strong>
|
|
Haematologica 94: 335-339, 2009.
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|
|
[PubMed: 19176363]
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[Full Text: https://doi.org/10.3324/haematol.2008.000125]
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</p>
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</li>
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<li>
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</body>
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</html>
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