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Entry
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- *304040 - GAP JUNCTION PROTEIN, BETA-1; GJB1
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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">*304040</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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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<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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<a href="#animalModel">Animal Model</a>
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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/304040">Table View</a>
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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 role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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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=ENSG00000169562;t=ENST00000361726" 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=2705" 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=304040" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000169562;t=ENST00000361726" 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_000166,NM_001097642,XM_011530907" 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_000166" 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=304040" 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=02367&isoform_id=02367_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/GJB1" 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/31647,117688,974141,4504005,12803917,18490873,24660122,54695528,119625710,119625711,148233402,189069227,768037555,2462628980,2462628982" 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/P08034" 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=2705" 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=ENSG00000169562;t=ENST00000361726" 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=GJB1" 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=GJB1" 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+2705" 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/GJB1" 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:2705" 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/2705" 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=chrX&hgg_gene=ENST00000361726.7&hgg_start=71215239&hgg_end=71225516&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:4283" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/gjb1" 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=304040[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=304040[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/ENSG00000169562" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=GJB1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=GJB1" 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=GJB1" 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="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://davinci.crg.es/deafness/" title="The Connexin-deafness homepage" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">The Connexin-deafness home…</a></div><div style="margin-left: 0.5em;"><a href="http://www.molgen.ua.ac.be/CMTMutations/" title="Inherited Peripheral Neuropathies Mutation Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Inherited Peripheral Neuro…</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=GJB1&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/PA28694" 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:4283" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:95719" 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/GJB1#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:95719" 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/2705/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=2705" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-010619-2" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:304040" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
|
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</span>
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</span>
|
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=GJB1&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> 111499002, 763455008<br />
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<strong>ICD10CM:</strong> G60.0<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
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304040
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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GAP JUNCTION PROTEIN, BETA-1; GJB1
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</span>
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</h3>
|
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</div>
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<div>
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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GAP JUNCTION PROTEIN, 32-KD<br />
|
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CONNEXIN 32; CX32<br />
|
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LIVER CONNEXIN
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</span>
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GJB1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GJB1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/X/406?start=-3&limit=10&highlight=406">Xq13.1</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:71215239-71225516&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'})">X:71,215,239-71,225,516</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
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</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/406?start=-3&limit=10&highlight=406">
|
|
Xq13.1
|
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</a>
|
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</span>
|
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</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/302800"> 302800 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
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|
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</span>
|
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</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>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<p>Connexins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells (<a href="#4" class="mim-tip-reference" title="Bergoffen, J., Scherer, S. S., Wang, S., Oronzi Scott, M., Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., Fischbeck, K. H. <strong>Connexin mutations in X-linked Charcot-Marie-Tooth disease.</strong> Science 262: 2039-2042, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8266101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8266101</a>] [<a href="https://doi.org/10.1126/science.8266101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8266101">Bergoffen et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8266101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#25" class="mim-tip-reference" title="Kumar, N. M., Gilula, N. B. <strong>Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein.</strong> J. Cell Biol. 103: 767-776, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2875078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2875078</a>] [<a href="https://doi.org/10.1083/jcb.103.3.767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2875078">Kumar and Gilula (1986)</a> isolated the human CX32 gene from a human liver cDNA library. By Northern blot analysis, <a href="#4" class="mim-tip-reference" title="Bergoffen, J., Scherer, S. S., Wang, S., Oronzi Scott, M., Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., Fischbeck, K. H. <strong>Connexin mutations in X-linked Charcot-Marie-Tooth disease.</strong> Science 262: 2039-2042, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8266101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8266101</a>] [<a href="https://doi.org/10.1126/science.8266101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8266101">Bergoffen et al. (1993)</a> showed CX32 expression in liver and peripheral nerve. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2875078+8266101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#39" class="mim-tip-reference" title="Sohl, G., Nielsen, P. A., Eiberger, J., Willecke, K. <strong>Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues.</strong> Cell Commun. Adhes. 10: 27-36, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12881038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12881038</a>] [<a href="https://doi.org/10.1080/15419060302063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12881038">Sohl et al. (2003)</a> stated that mouse and human CX32 share 99% amino acid identity and differ at only 4 residues. They also share significant similarity in the 5-prime UTR and promoter region. Northern blot analysis detected a 1.6-kb CX32 transcript in both mouse and human. In both species, expression was highest in liver and moderate in pancreas, kidney, and brain. No expression was detected in skeletal muscle, lung, and heart. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12881038" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#43" class="mim-tip-reference" title="Willecke, K., Jungbluth, S., Dahl, E., Hennemann, H., Heynkes, R., Grzeschik, K.-H. <strong>Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes.</strong> Europ. J. Cell Biol. 53: 275-280, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1964417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1964417</a>]" pmid="1964417">Willecke et al. (1990)</a> used a rat cDNA probe in Southern analysis of a panel of human-mouse somatic cell hybrids to map CX32 to Xp11-q13. Through analysis of somatic cell hybrids by PCR and hybridization, <a href="#13" class="mim-tip-reference" title="Fishman, G. I., Eddy, R. L., Shows, T. B., Rosenthal, L., Leinwand, L. A. <strong>The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structure.</strong> Genomics 10: 250-256, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1646158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1646158</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90507-b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1646158">Fishman et al. (1991)</a> assigned the GJA1 gene (<a href="/entry/121014">121014</a>) to chromosome 6 and the GJB1 gene to Xp11-q22. Structural comparisons of these genes indicated that they probably arose from a common progenitor gene. Because of a critical function, the connexins may have evolved early and have remained relatively conserved despite their disparate locations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1964417+1646158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a series of somatic cell hybrid mapping panels and a rat GJB1 probe, <a href="#11" class="mim-tip-reference" title="Corcos, I. A., Lafreniere, R. G., Begy, C. R., Loch-Caruso, R., Willard, H. F., Glover, T. W. <strong>Refined localization of human connexin 32 gene locus, GJB1, to Xq13.1.</strong> Genomics 13: 479-480, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1319395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1319395</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90278-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1319395">Corcos et al. (1992)</a> mapped the CX32 gene to proximal Xq13.1, in interval 8, as described by <a href="#27" class="mim-tip-reference" title="Lafreniere, R. G., Brown, C. J., Powers, V. E., Carrel, L., Davies, K. E., Barker, D. F., Willard, H. F. <strong>Physical mapping of 60 DNA markers in the p21.1-q21.3 region of the human X chromosome.</strong> Genomics 11: 352-363, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1685139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1685139</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90143-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1685139">Lafreniere et al. (1991)</a>. By somatic cell hybrids, <a href="#17" class="mim-tip-reference" title="Hsieh, C.-L., Kumar, N. M., Gilula, N. B., Francke, U. <strong>Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes.</strong> Somat. Cell Molec. Genet. 17: 191-200, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1849321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1849321</a>] [<a href="https://doi.org/10.1007/BF01232976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1849321">Hsieh et al. (1991)</a> mapped GJB1 to Xcen-q22 and mapped the corresponding gene to the X chromosome in the mouse. <a href="#36" class="mim-tip-reference" title="Raimondi, E., Gaudi, S., Moralli, D., De Carli, L., Malcovati, M., Simonic, T., Tenchini, M. L. <strong>Assignment of the human connexin 32 gene (GJB1) to band Xq13.</strong> Cytogenet. Cell Genet. 60: 210-211, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1324137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1324137</a>] [<a href="https://doi.org/10.1159/000133339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1324137">Raimondi et al. (1992)</a> refined the assignment to Xq13 by in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1849321+1319395+1324137+1685139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#4" class="mim-tip-reference" title="Bergoffen, J., Scherer, S. S., Wang, S., Oronzi Scott, M., Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., Fischbeck, K. H. <strong>Connexin mutations in X-linked Charcot-Marie-Tooth disease.</strong> Science 262: 2039-2042, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8266101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8266101</a>] [<a href="https://doi.org/10.1126/science.8266101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8266101">Bergoffen et al. (1993)</a> found CX32 expression in myelinated peripheral nerve at the nodes of Ranvier and Schmidt-Lanterman incisures. CX32 may form intracellular gap junctions that connect to the folds of Schwann cell cytoplasm, allowing the transfer of nutrients, ions, and molecules to the innermost myelin layers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8266101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Scherer, S. S., Deschenes, S. M., Xu, Y., Grinspan, J. B., Fischbeck, K. H., Paul, D. L. <strong>Connexin32 is a myelin-related protein in the PNS and CNS.</strong> J. Neurosci. 15: 8281-8294, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613761</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.15-12-08281.1995" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613761">Scherer et al. (1995)</a> demonstrated that CX32 is normally found in the paranodal myelin loops and Schmidt-Lanterman incisures of myelinating Schwann cells in the peripheral nervous system, as well as in oligodendrocytes and their processes, but not in compact myelin of the central nervous system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8613761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="Kumar, N. M., Gilula, N. B. <strong>The gap junction communication channel.</strong> Cell 84: 381-388, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8608591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8608591</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81282-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8608591">Kumar and Gilula (1996)</a> gave a general review of the gap junction communication channel. Beta-1 connexin is widely expressed in many tissues, including liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8608591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Bondurand, N., Girard, M., Pingault, V., Lemort, N., Dubourg, O., Goossens, M. <strong>Human connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10.</strong> Hum. Molec. Genet. 10: 2783-2795, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11734543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11734543</a>] [<a href="https://doi.org/10.1093/hmg/10.24.2783" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11734543">Bondurand et al. (2001)</a> showed that the transcription modulator SOX10 (<a href="/entry/602229">602229</a>), in synergy with EGR2 (<a href="/entry/129010">129010</a>), strongly activates CX32 expression in vitro by directly binding to its promoter. In agreement with this finding, SOX10 and EGR2 mutants identified in patients with peripheral myelin defects failed to transactivate the CX32 promoter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11734543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 direct sequencing, <a href="#4" class="mim-tip-reference" title="Bergoffen, J., Scherer, S. S., Wang, S., Oronzi Scott, M., Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., Fischbeck, K. H. <strong>Connexin mutations in X-linked Charcot-Marie-Tooth disease.</strong> Science 262: 2039-2042, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8266101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8266101</a>] [<a href="https://doi.org/10.1126/science.8266101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8266101">Bergoffen et al. (1993)</a> identified 7 different mutations in the CX32 gene (see, e.g., <a href="#0001">304040.0001</a>-<a href="#0003">304040.0003</a>) in affected persons from 8 families with X-linked dominant Charcot-Marie-Tooth disease (CMTX1; <a href="/entry/302800">302800</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8266101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Bone, L. J., Dahl, N., Lensch, M. W., Chance, P. F., Kelly, T., Le Guern, E., Magi, S., Parry, G., Shapiro, H., Wang, S., Fischbeck, K. H. <strong>New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.</strong> Neurology 45: 1863-1866, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7477983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7477983</a>] [<a href="https://doi.org/10.1212/wnl.45.10.1863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7477983">Bone et al. (1995)</a> described sequence analysis from 19 unrelated patients with X-linked Charcot-Marie-Tooth disease, detecting 6 novel mutations and 3 previously reported mutations (see, e.g., <a href="#0003">304040.0003</a>-<a href="#0011">304040.0011</a>). Analysis of the distribution of these mutations as well as those previously reported suggested to the authors that virtually all regions of connexin 32 are important in its function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7477983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#19" class="mim-tip-reference" title="Ionasescu, V., Ionasescu, R., Searby, C. <strong>Correlation between connexin32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.</strong> Am. J. Med. Genet. 63: 486-491, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8737658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8737658</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960614)63:3<486::AID-AJMG14>3.0.CO;2-I" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8737658">Ionasescu et al. (1996)</a> studied 27 families with X-linked Charcot-Marie-Tooth neuropathy. Mutations in the coding region of the CX32 gene were found in 22 families. These mutations included 4 nonsense mutations, 8 missense mutations, 2 medium-sized deletions, and 1 insertion. Most missense mutations showed a mild clinical phenotype (5 of 8), whereas all nonsense mutations, the larger of the 2 deletions, and the insertion that produced frameshifts showed severe phenotypes. No point mutations in the CX32 gene coding region were found in 5 CMTX1 families with mild clinical phenotype. In 3 of these families, positive genetic linkage with the markers of the Xq13.1 region were found; the genetic linkage of the remaining 2 families could not be evaluated because of their small size. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8737658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#33" class="mim-tip-reference" title="Omori, Y., Mesnil, M., Yamasaki, H. <strong>Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects.</strong> Molec. Biol. Cell 7: 907-916, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8816997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8816997</a>] [<a href="https://doi.org/10.1091/mbc.7.6.907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8816997">Omori et al. (1996)</a> studied 4 known mutations in the connexin-32 gene: lys60 to phe, a mutation in a highly conserved cysteine residue; val139 to met (<a href="#0003">304040.0003</a>), located in the transmembrane region; arg215 to trp, located in the cytoplasmic tail; and ala220 to ter (<a href="#0005">304040.0005</a>), also located in the cytoplasmic tail. Since HeLa cells do not show detectable levels of gap junction intercellular communication (GJIC) or expression of any connexins, they tested the functional effects of transfecting mutant genes in HeLa cultures. The first 3 mutations were unable to restore GJIC in transfected HeLa cells (although their gene products were detectable), in contrast to normal GJIC detected with the last mutation. In addition, the dominant-negative effect was tested in doubly transfected HeLa cells and the investigators found that low expression of the mutant CX32 gene had a relatively significant effect on diminishing GJIC. <a href="#33" class="mim-tip-reference" title="Omori, Y., Mesnil, M., Yamasaki, H. <strong>Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects.</strong> Molec. Biol. Cell 7: 907-916, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8816997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8816997</a>] [<a href="https://doi.org/10.1091/mbc.7.6.907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8816997">Omori et al. (1996)</a> therefore concluded that certain mutants form nonfunctional chimeric connexins with wildtype connexins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8816997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#32" class="mim-tip-reference" title="Nelis, E., Simokovic, S., Timmerman, V., Lofgren, A., Backhovens, H., De Jonghe, P., Martin, J.-J., Van Broeckhoven, C. <strong>Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations.</strong> Hum. Mutat. 9: 47-52, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8990008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8990008</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<47::AID-HUMU8>3.0.CO;2-M" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8990008">Nelis et al. (1997)</a> described 5 new mutations in the CX32 gene. <a href="#21" class="mim-tip-reference" title="Janssen, E. A. M., Kemp, S., Hensels, G. W., Sie, O. G., de Die-Smulders, C. E. M., Hoogendijk, J. E., de Visser, M., Bolhuis, P. A. <strong>Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).</strong> Hum. Genet. 99: 501-505, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9099841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9099841</a>] [<a href="https://doi.org/10.1007/s004390050396" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9099841">Janssen et al. (1997)</a> performed SSCP analysis of the CX32 gene in 121 patients selected from the larger group of 443 patients on the basis of linkage to Xq13.1, absence of the 17p12 duplication or deletion, and absence of point mutations in PMP22 and P0. They found 5 new mutations and 3 mutations previously described in other unrelated families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9099841+8990008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 35 unrelated CMTX patients without the 17p11.2 duplication but with median nerve conduction between 30 and 40 m/s, <a href="#37" class="mim-tip-reference" title="Rouger, H., LeGuern, E., Birouk, N., Gouider, R., Tardieu, S., Plassart, E., Gugenheim, M., Vallat, J.-M., Louboutin, J.-P., Bouche, P., Agid, Y., Brice, A. <strong>Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 CX32 mutations in 35 families.</strong> Hum. Mutat. 10: 443-452, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9401007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9401007</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:6<443::AID-HUMU5>3.0.CO;2-E" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9401007">Rouger et al. (1997)</a> screened for a CX32 mutation. A total of 14 mutations were found, 5 of which had not previously been reported. All but 1 of the mutations were detected by SSCP. Mutations causing CMTX have been found mostly in exon 2 of the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9401007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#28" class="mim-tip-reference" title="Latour, P., Levy, N., Paret, M., Chapon, F., Chazot, G., Clavelou, P., Couratier, P., Dumas, R., Ollagnon, E., Pouget, J., Setiey, A., Vallat, J. M., Boucherat, M., Fontes, M., Vandenberghe, A. <strong>Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.</strong> Neurogenetics 1: 117-123, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10732813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10732813</a>] [<a href="https://doi.org/10.1007/s100480050017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10732813">Latour et al. (1997)</a> identified a total of 19 separate mutations in the CX32 gene as the cause of CMTX in 21 French families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10732813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="Ainsworth, P. J., Bolton, C. F., Murphy, B. C., Stuart, J. A., Hahn, A. F. <strong>Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene.</strong> Hum. Genet. 103: 242-244, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9760211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9760211</a>] [<a href="https://doi.org/10.1007/s004390050812" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9760211">Ainsworth et al. (1998)</a> reported a family in which affected members with CMTX had complete deletion of the GJB1 gene with complete absence of the Cx32 gene product. The clinical phenotype in the affected individuals in this kindred did not appear to differ greatly from the phenotype observed in other individuals with missense, nonsense, or frameshift mutations in the gene. This would appear to make a dominant-negative effect of the mutation unlikely. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9760211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#18" class="mim-tip-reference" title="Ikegami, T., Lin, C., Kato, M., Itoh, A., Nonaka, I., Kurimura, M., Hirayabashi, H., Shinohara, Y., Mochizuki, A., Hayasaka, K. <strong>Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.</strong> Am. J. Med. Genet. 80: 352-355, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856562</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981204)80:4<352::aid-ajmg9>3.0.co;2-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9856562">Ikegami et al. (1998)</a> stated that more than 130 different mutations of the GJB1 gene, including coding and noncoding regions, had been reported in patients with X-linked CMT. In studies of 49 Japanese families with CMT1 they found 5 mutations of the GJB1 gene; 4 of which had not previously been reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9856562" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="Nelis, E., Haites, N., Van Broeckhoven, C. <strong>Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.</strong> Hum. Mutat. 13: 11-28, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9888385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9888385</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9888385">Nelis et al. (1999)</a> identified 163 distinct mutations in the coding region of the CX32 gene in 268 unrelated patients with hereditary peripheral neuropathy. Of these mutations, 125 were missense mutations, 1 a double missense mutation, 1 a missense mutation combined with a 1-amino acid deletion, 12 nonsense mutations, 17 frameshift mutations, and 6 in-frame deletions and insertions. Further, in 1 case a complex rearrangement in the coding region of CX32 was found. Most missense mutations showed a mild clinical phenotype, whereas all nonsense mutations and frameshift deletion/insertions showed severe phenotypes. Forty-four percent of the codons were mutated in more than 1 patient. At codon 22, 4 distinct mutations were identified in 20 unrelated patients. In 2 X-linked families not showing mutations in the coding region of CX32, mutations in the noncoding region were identified by <a href="#20" class="mim-tip-reference" title="Ionasescu, V. V., Searby, C., Ionasescu, R., Neuhaus, I. M., Werner, R. <strong>Mutations of the noncoding region of the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy.</strong> Neurology 47: 541-544, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8757034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8757034</a>] [<a href="https://doi.org/10.1212/wnl.47.2.541" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8757034">Ionasescu et al. (1996)</a>. In addition to the 163 mutations tabulated for the CX32 gene in patients with hereditary peripheral neuropathy, <a href="#31" class="mim-tip-reference" title="Nelis, E., Haites, N., Van Broeckhoven, C. <strong>Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.</strong> Hum. Mutat. 13: 11-28, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9888385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9888385</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9888385">Nelis et al. (1999)</a> identified 58 mutations in the MPZ gene (<a href="/entry/159440">159440</a>) and 27 mutations in the PMP22 gene (<a href="/entry/601097">601097</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8757034+9888385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>GJB1 is expressed in both the peripheral and the central nervous system. In consequence, it is not surprising that patients with CMTX1 and specific GJB1 mutations have both peripheral neuropathy and a mild or transient brain disorder (<a href="#35" class="mim-tip-reference" title="Paulson, H. L., Garbern, J. Y., Hoban, T. F., Krajewski, K. M., Lewis, R. A., Fischbeck, K. H., Grossman, R. I., Lenkinski, R., Kamholz, J. A., Shy, M. E. <strong>Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.</strong> Ann. Neurol. 52: 429-434, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12325071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12325071</a>] [<a href="https://doi.org/10.1002/ana.10305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12325071">Paulson et al., 2002</a>; <a href="#15" class="mim-tip-reference" title="Hanemann, C. O., Bergmann, C., Senderek, J., Zerres, K., Sperfeld, A.-D. <strong>Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.</strong> Arch. Neurol. 60: 605-609, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12707076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12707076</a>] [<a href="https://doi.org/10.1001/archneur.60.4.605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12707076">Hanemann et al., 2003</a>; <a href="#42" class="mim-tip-reference" title="Takashima, H., Nakagawa, M., Umehara, F., Hirata, K., Suehara, M., Mayumi, H., Yoshishige, K., Matsuyama, W., Saito, M., Jonosono, M., Arimura, K., Osame, M. <strong>Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease.</strong> Acta Neurol. Scand. 107: 31-37, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12542510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12542510</a>] [<a href="https://doi.org/10.1034/j.1600-0404.2003.01317.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12542510">Takashima et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12542510+12325071+12707076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Kleopa, K. A., Zamba-Papanicolaou, E., Alevra, X., Nicolaou, P., Georgiou, D.-M., Hadjisavvas, A., Kyriakides, T., Christodoulou, K. <strong>Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.</strong> Neurology 66: 396-402, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16476939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16476939</a>] [<a href="https://doi.org/10.1212/01.wnl.0000196479.93722.59" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16476939">Kleopa et al. (2006)</a> reported 2 novel mutations in the GJB1 gene that segregated with CMTX1 in 2 unrelated families. In vitro expression studies and immunohistochemistry showed that the mutant proteins were retained within the Golgi apparatus and failed to reach the cell membrane where gap junctions are normally formed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16476939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="Casasnovas, C., Banchs, I., Corral, J., Martinez-Matos, J. A., Volpini, V. <strong>Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.</strong> Clin. Genet. 70: 516-523, 2006. Note: Erratum: Clin. Genet. 71: 194 only, 2007. Erratum: Clin. Genet. 73: 196 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17100997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17100997</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00724.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17100997">Casasnovas et al. (2006)</a> identified 34 GJB1 mutations, including 6 novel mutations, in 59 patients from 34 CMT families of Spanish or Portuguese descent. The extracellular loop domains were affected in 64.6% of mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17100997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 28 (5.3%) of 527 unrelated Korean families with CMT, <a href="#23" class="mim-tip-reference" title="Kim, Y., Choi, K.-G., Park, K. D., Lee, K. S., Chung, K. W., Choi, B.-O. <strong>X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.</strong> Clin. Genet. 81: 142-149, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21291455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21291455</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01642.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21291455">Kim et al. (2012)</a> identified 23 different mutations in the GJB1 gene (see, e.g., <a href="#0005">304040.0005</a> and <a href="#0011">304040.0011</a>). Nine of the mutations were novel. Mutations affected the extracellular 2 (EC2) domain of the protein in 44% of families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21291455" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 large Australian family with an unusual form of X-linked CMT, originally reported by <a href="#40" class="mim-tip-reference" title="Spira, P. J., McLeod, J. G., Evans, W. A. <strong>A spinocerebellar degeneration with X-linked inheritance.</strong> Brain 102: 27-41, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/427531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">427531</a>] [<a href="https://doi.org/10.1093/brain/102.1.27" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="427531">Spira et al. (1979)</a>, <a href="#7" class="mim-tip-reference" title="Caramins, M., Colebatch, J. G., Bainbridge, M. N., Scherer, S. S., Abrams, C. K., Hackett, E. L., Freidin, M. M., Jhangiani, S. N., Wang, M., Wu, Y., Muzny, D. M., Lindeman, R., Gibbs, R. A. <strong>Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).</strong> Hum. Molec. Genet. 22: 4329-4338, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23773993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23773993</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23773993[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/10.1093/hmg/ddt282" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23773993">Caramins et al. (2013)</a> identified a missense mutation in the GJB1 gene (<a href="#0022">304040.0022</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=427531+23773993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 chemokine monocyte chemoattractant protein-1 (MCP1; <a href="/entry/158105">158105</a>) had been shown to be a mediator of macrophage-related neural damage in models of 2 distinct inherited neuropathies, Charcot-Marie-Tooth (CMT) 1A (<a href="/entry/118220">118220</a>) and 1B (<a href="/entry/118200">118200</a>). In mice deficient in connexin-32 (Cx32def), <a href="#14" class="mim-tip-reference" title="Groh, J., Heinl, K., Kohl, B., Wessig, C., Greeske, J., Fischer, S., Martini, R. <strong>Attenuation of MCP-1/CCL2 expression ameliorates neuropathy in a mouse model for Charcot-Marie-Tooth 1X.</strong> Hum. Molec. Genet. 19: 3530-3543, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20591826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20591826</a>] [<a href="https://doi.org/10.1093/hmg/ddq269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20591826">Groh et al. (2010)</a> investigated the role of the chemokine in macrophage immigration and neural damage by crossbreeding the Cx32def mice with MCP1 knockout mutants. In Cx32def mutants typically expressing increased levels of MCP1, macrophage numbers were strongly elevated, caused by an MCP1-mediated influx of hematogenous macrophages. In contrast, heterozygous deletion of MCP1 led to reduced numbers of phagocytosing macrophages and an alleviation of demyelination. Whereas alleviated demyelination was transient, axonal damage was persistently improved and even robust axonal sprouting was detectable at 12 months. Other axon-related features were alleviated electrophysiologic parameters, reduced muscle denervation and atrophy, and increased muscle strength. Similar to models for CMT1A and CMT1B, MEK-ERK (see <a href="/entry/176872">176872</a>; see <a href="/entry/601795">601795</a>) signaling mediated MCP1 expression in Cx32-deficient Schwann cells. Blocking this pathway by the inhibitor CI-1040 caused reduced MCP1 expression, attenuation of macrophage increase, and amelioration of myelin- and axon-related alterations. <a href="#14" class="mim-tip-reference" title="Groh, J., Heinl, K., Kohl, B., Wessig, C., Greeske, J., Fischer, S., Martini, R. <strong>Attenuation of MCP-1/CCL2 expression ameliorates neuropathy in a mouse model for Charcot-Marie-Tooth 1X.</strong> Hum. Molec. Genet. 19: 3530-3543, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20591826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20591826</a>] [<a href="https://doi.org/10.1093/hmg/ddq269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20591826">Groh et al. (2010)</a> concluded that attenuation of MCP1 upregulation by inhibiting ERK phosphorylation could be a promising approach to treat CMT1X and other inherited peripheral neuropathies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20591826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 family with X-linked Charcot-Marie-Tooth disease (<a href="/entry/302800">302800</a>), <a href="#4" class="mim-tip-reference" title="Bergoffen, J., Scherer, S. S., Wang, S., Oronzi Scott, M., Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., Fischbeck, K. H. <strong>Connexin mutations in X-linked Charcot-Marie-Tooth disease.</strong> Science 262: 2039-2042, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8266101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8266101</a>] [<a href="https://doi.org/10.1126/science.8266101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8266101">Bergoffen et al. (1993)</a> found a C-to-T transition in codon 142 of the CX32 gene, resulting in substitution of tryptophan for arginine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8266101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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> rs104894811 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894811;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/rs104894811?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=rs104894811" 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=rs104894811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a family with X-linked Charcot-Marie-Tooth disease (<a href="/entry/302800">302800</a>), <a href="#4" class="mim-tip-reference" title="Bergoffen, J., Scherer, S. S., Wang, S., Oronzi Scott, M., Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., Fischbeck, K. H. <strong>Connexin mutations in X-linked Charcot-Marie-Tooth disease.</strong> Science 262: 2039-2042, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8266101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8266101</a>] [<a href="https://doi.org/10.1126/science.8266101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8266101">Bergoffen et al. (1993)</a> found a G-to-A transition in codon 172 of the CX32 gene, resulting in substitution of serine for proline. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8266101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 family with X-linked Charcot-Marie-Tooth disease (<a href="/entry/302800">302800</a>), <a href="#4" class="mim-tip-reference" title="Bergoffen, J., Scherer, S. S., Wang, S., Oronzi Scott, M., Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., Fischbeck, K. H. <strong>Connexin mutations in X-linked Charcot-Marie-Tooth disease.</strong> Science 262: 2039-2042, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8266101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8266101</a>] [<a href="https://doi.org/10.1126/science.8266101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8266101">Bergoffen et al. (1993)</a> found a G-to-A transition in codon 139 of the CX32 gene, resulting in a substitution of valine for methionine. The identical mutation was found in an unrelated patient by <a href="#6" class="mim-tip-reference" title="Bone, L. J., Dahl, N., Lensch, M. W., Chance, P. F., Kelly, T., Le Guern, E., Magi, S., Parry, G., Shapiro, H., Wang, S., Fischbeck, K. H. <strong>New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.</strong> Neurology 45: 1863-1866, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7477983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7477983</a>] [<a href="https://doi.org/10.1212/wnl.45.10.1863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7477983">Bone et al. (1995)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8266101+7477983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894813 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894813;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=rs104894813" 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=rs104894813" 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=RCV000011179" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011179" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011179</a>
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<p>In a family with X-linked Charcot-Marie-Tooth disease (<a href="/entry/302800">302800</a>), <a href="#6" class="mim-tip-reference" title="Bone, L. J., Dahl, N., Lensch, M. W., Chance, P. F., Kelly, T., Le Guern, E., Magi, S., Parry, G., Shapiro, H., Wang, S., Fischbeck, K. H. <strong>New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.</strong> Neurology 45: 1863-1866, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7477983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7477983</a>] [<a href="https://doi.org/10.1212/wnl.45.10.1863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7477983">Bone et al. (1995)</a> found a T-to-C transition in codon 133 of the CX32 gene, resulting in a substitution of arginine for tryptophan. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7477983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
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GJB1, ARG220TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894814 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894814;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=rs104894814" 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=rs104894814" 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=RCV000011180 OR RCV000236998 OR RCV000466155 OR RCV002362576" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011180, RCV000236998, RCV000466155, RCV002362576" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011180...</a>
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<p>In a family with X-linked Charcot-Marie-Tooth disease (<a href="/entry/302800">302800</a>), <a href="#12" class="mim-tip-reference" title="Fairweather, N., Bell, C., Cochrane, S., Chelly, J., Wang, S., Mostacciuolo, M. L., Monaco, A. P., Haites, N. E. <strong>Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).</strong> Hum. Molec. Genet. 3: 29-34, 1994. Note: Erratum: Hum. Molec. Genet. 3: 1034 only, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8162049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8162049</a>] [<a href="https://doi.org/10.1093/hmg/3.1.29" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8162049">Fairweather et al. (1994)</a> found a C-to-T transition in codon 220 of the CX32 gene, resulting in a stop signal in place of an arginine (R220X). The same mutation was found in an unrelated Virginia family by <a href="#6" class="mim-tip-reference" title="Bone, L. J., Dahl, N., Lensch, M. W., Chance, P. F., Kelly, T., Le Guern, E., Magi, S., Parry, G., Shapiro, H., Wang, S., Fischbeck, K. H. <strong>New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.</strong> Neurology 45: 1863-1866, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7477983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7477983</a>] [<a href="https://doi.org/10.1212/wnl.45.10.1863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7477983">Bone et al. (1995)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7477983+8162049" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 Korean patient with CMTX1, <a href="#23" class="mim-tip-reference" title="Kim, Y., Choi, K.-G., Park, K. D., Lee, K. S., Chung, K. W., Choi, B.-O. <strong>X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.</strong> Clin. Genet. 81: 142-149, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21291455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21291455</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01642.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21291455">Kim et al. (2012)</a> identified a c.658C-T transition in the GJB1 gene, resulting in an R220X substitution in the C-terminal domain. The patient had a demyelinating neuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21291455" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<strong>.0006 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
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GJB1, ILE30ASN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894817 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894817;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=rs104894817" 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=rs104894817" 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=RCV000011181" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011181" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011181</a>
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<p>In a family with X-linked Charcot-Marie-Tooth disease (<a href="/entry/302800">302800</a>), <a href="#6" class="mim-tip-reference" title="Bone, L. J., Dahl, N., Lensch, M. W., Chance, P. F., Kelly, T., Le Guern, E., Magi, S., Parry, G., Shapiro, H., Wang, S., Fischbeck, K. H. <strong>New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.</strong> Neurology 45: 1863-1866, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7477983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7477983</a>] [<a href="https://doi.org/10.1212/wnl.45.10.1863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7477983">Bone et al. (1995)</a> found a T-to-A transversion in codon 30 of the CX32 gene, resulting in the substitution of asparagine for isoleucine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7477983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
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GJB1, LEU156ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894818 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894818;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=rs104894818" 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=rs104894818" 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=RCV000011182 OR RCV000256065 OR RCV000463876 OR RCV002326674" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011182, RCV000256065, RCV000463876, RCV002326674" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011182...</a>
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<p>In a family with X-linked Charcot-Marie-Tooth disease (<a href="/entry/302800">302800</a>), <a href="#6" class="mim-tip-reference" title="Bone, L. J., Dahl, N., Lensch, M. W., Chance, P. F., Kelly, T., Le Guern, E., Magi, S., Parry, G., Shapiro, H., Wang, S., Fischbeck, K. H. <strong>New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.</strong> Neurology 45: 1863-1866, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7477983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7477983</a>] [<a href="https://doi.org/10.1212/wnl.45.10.1863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7477983">Bone et al. (1995)</a> found a T-to-G transversion in codon 156 of the CX32 gene, resulting in the substitution of arginine for leucine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7477983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894819 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894819;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=rs104894819" 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=rs104894819" 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=RCV000011183 OR RCV001245963 OR RCV001659691" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011183, RCV001245963, RCV001659691" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011183...</a>
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<p>In a family with X-linked Charcot-Marie-Tooth disease (<a href="/entry/302800">302800</a>), <a href="#6" class="mim-tip-reference" title="Bone, L. J., Dahl, N., Lensch, M. W., Chance, P. F., Kelly, T., Le Guern, E., Magi, S., Parry, G., Shapiro, H., Wang, S., Fischbeck, K. H. <strong>New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.</strong> Neurology 45: 1863-1866, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7477983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7477983</a>] [<a href="https://doi.org/10.1212/wnl.45.10.1863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7477983">Bone et al. (1995)</a> found an A-to-G transition in codon 65 of the CX32 gene, resulting in a substitution of cysteine for tyrosine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7477983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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> rs104894820 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894820;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/rs104894820?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=rs104894820" 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=rs104894820" 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=RCV000011184" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011184" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011184</a>
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<p>In a family with X-linked Charcot-Marie-Tooth disease (<a href="/entry/302800">302800</a>), <a href="#6" class="mim-tip-reference" title="Bone, L. J., Dahl, N., Lensch, M. W., Chance, P. F., Kelly, T., Le Guern, E., Magi, S., Parry, G., Shapiro, H., Wang, S., Fischbeck, K. H. <strong>New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.</strong> Neurology 45: 1863-1866, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7477983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7477983</a>] [<a href="https://doi.org/10.1212/wnl.45.10.1863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7477983">Bone et al. (1995)</a> found a G-to-T transversion in codon 13 of the CX32 gene, resulting in a substitution of leucine for valine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7477983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs1602349316 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1602349316;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=rs1602349316" 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=rs1602349316" 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=RCV000011185 OR RCV000789816" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011185, RCV000789816" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011185...</a>
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<p>In a family with X-linked Charcot-Marie-Tooth disease (<a href="/entry/302800">302800</a>), <a href="#6" class="mim-tip-reference" title="Bone, L. J., Dahl, N., Lensch, M. W., Chance, P. F., Kelly, T., Le Guern, E., Magi, S., Parry, G., Shapiro, H., Wang, S., Fischbeck, K. H. <strong>New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.</strong> Neurology 45: 1863-1866, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7477983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7477983</a>] [<a href="https://doi.org/10.1212/wnl.45.10.1863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7477983">Bone et al. (1995)</a> found a deletion of thymidine residue in codon 137 of CX32, resulting in a frameshift mutation which predicted a truncated 194-amino acid protein with the last 58 amino acids starting at codon 137 altered from wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7477983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894821 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894821;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=rs104894821" 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=rs104894821" 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=RCV000011186 OR RCV000168221 OR RCV000235924 OR RCV000789817 OR RCV002433451" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011186, RCV000168221, RCV000235924, RCV000789817, RCV002433451" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011186...</a>
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<p>In a family with X-linked Charcot-Marie-Tooth disease (<a href="/entry/302800">302800</a>), <a href="#6" class="mim-tip-reference" title="Bone, L. J., Dahl, N., Lensch, M. W., Chance, P. F., Kelly, T., Le Guern, E., Magi, S., Parry, G., Shapiro, H., Wang, S., Fischbeck, K. H. <strong>New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.</strong> Neurology 45: 1863-1866, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7477983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7477983</a>] [<a href="https://doi.org/10.1212/wnl.45.10.1863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7477983">Bone et al. (1995)</a> found a G-to-A transition in codon 95 of the CX32 gene, resulting in the substitution of methionine for valine (V95M). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7477983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="Montenegro, G., Powell, E., Huang, J., Speziani, F., Edwards, Y. J. K., Beecham, G., Hulme, W., Siskind, C., Vance, J., Shy, M., Zuchner, S. <strong>Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.</strong> Ann. Neurol. 69: 464-470, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21254193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21254193</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21254193[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/10.1002/ana.22235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21254193">Montenegro et al. (2011)</a> reported the use of exome sequencing to identify the V95M mutation in affected members of a large family with Charcot-Marie-Tooth disease and a questionable inheritance pattern. Affected individuals had classic features of the disease, with onset between ages 14 and 40 years of distal sensory impairment and muscle weakness and atrophy affecting the upper and lower limbs. Nerve conduction velocities were in the intermediate range. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21254193" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 Korean family with CMTX1, <a href="#23" class="mim-tip-reference" title="Kim, Y., Choi, K.-G., Park, K. D., Lee, K. S., Chung, K. W., Choi, B.-O. <strong>X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.</strong> Clin. Genet. 81: 142-149, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21291455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21291455</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01642.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21291455">Kim et al. (2012)</a> identified a c.283G-A transition in the GJB1 gene, resulting in a V95M substitution at a highly conserved residue in the TM2 domain. The patients had a demyelinating neuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21291455" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894822 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894822;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=rs104894822" 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=rs104894822" 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=RCV000011187 OR RCV000537008 OR RCV000991856" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011187, RCV000537008, RCV000991856" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011187...</a>
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<p>Since CX32 is expressed not only in Schwann cells in the peripheral nervous system but also in oligodendrocytes in the central nervous system, <a href="#3" class="mim-tip-reference" title="Bahr, M., Andres, F., Timmerman, V., Nelis, M. E., Van Broeckhoven, C., Dichgans, J. <strong>Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an asn205-to-ser mutation in the connexin 32 gene.</strong> J. Neurol. Neurosurg. Psychiat. 66: 202-206, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10071100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10071100</a>] [<a href="https://doi.org/10.1136/jnnp.66.2.202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10071100">Bahr et al. (1999)</a> examined a CMTX1 (<a href="/entry/302800">302800</a>) family for evidence of CNS involvement. The family had an asn205-to-ser mutation involving the fourth transmembrane domain of CX32. The patients showed typical clinical and electrophysiologic abnormalities in the peripheral nervous system, but, in addition, visual, acoustic, and motor pathways of the CNS were affected subclinically. This was indicated by pathologic changes in visual evoked potentials, brainstem auditory evoked potentials, and central motor evoked potentials. They suggested that abnormal electrophysiologic findings in CNS pathway examinations should raise the suspicion of CMTX and a search for mutations in the GJB1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10071100" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0013 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1602349143 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1602349143;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=rs1602349143" 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=rs1602349143" 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=RCV000011188 OR RCV000789249" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011188, RCV000789249" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011188...</a>
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<p>In a 71-year-old woman with X-linked Charcot-Marie-Tooth disease (<a href="/entry/302800">302800</a>), <a href="#41" class="mim-tip-reference" title="Tabaraud, F., Lagrange, E., Sindou, P., Vandenberghe, A., Levy, N., Vallat, J. M. <strong>Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings.</strong> Muscle Nerve 22: 1442-1447, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10487913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10487913</a>] [<a href="https://doi.org/10.1002/(sici)1097-4598(199910)22:10<1442::aid-mus16>3.0.co;2-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10487913">Tabaraud et al. (1999)</a> identified a truncating mutation, GAG to TAG at nucleotide 367, in the GJB1 gene. The mutation led to termination by a glutamic acid in codon position 102 instead of codon 283 for the normal protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10487913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs104894823 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894823;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=rs104894823" 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=rs104894823" 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=RCV000011189 OR RCV000789235" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011189, RCV000789235" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011189...</a>
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<p><a href="#21" class="mim-tip-reference" title="Janssen, E. A. M., Kemp, S., Hensels, G. W., Sie, O. G., de Die-Smulders, C. E. M., Hoogendijk, J. E., de Visser, M., Bolhuis, P. A. <strong>Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).</strong> Hum. Genet. 99: 501-505, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9099841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9099841</a>] [<a href="https://doi.org/10.1007/s004390050396" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9099841">Janssen et al. (1997)</a> identified a C-to-G transversion in the GJB1 gene, resulting in a ser85-to-cys (S85C) substitution, associated with X-linked Charcot-Marie-Tooth disease (<a href="/entry/302800">302800</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9099841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="Abrams, C. K., Bennett, M. V. L., Verselis, V. K., Bargiello, T. A. <strong>Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease.</strong> Proc. Nat. Acad. Sci. 99: 3980-3984, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11891346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11891346</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11891346[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.261713499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11891346">Abrams et al. (2002)</a> showed that expression of the S85C mutation resulted in large, relatively nonselective, voltage-dependent currents not seen in oocytes expressing wildtype Cx32. The findings suggested that the S85C mutant has a much greater propensity to form conducting hemichannels than does wildtype Cx32. The authors suggested that the resulting increase in membrane permeability may prevent normal functioning of the Schwann cells and peripheral nerves of patients harboring this mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11891346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>.0015 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1003232768 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1003232768;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=rs1003232768" 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=rs1003232768" 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=RCV000011190 OR RCV005089225" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011190, RCV005089225" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011190...</a>
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<p><a href="#20" class="mim-tip-reference" title="Ionasescu, V. V., Searby, C., Ionasescu, R., Neuhaus, I. M., Werner, R. <strong>Mutations of the noncoding region of the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy.</strong> Neurology 47: 541-544, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8757034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8757034</a>] [<a href="https://doi.org/10.1212/wnl.47.2.541" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8757034">Ionasescu et al. (1996)</a> described a family with X-linked CMT (<a href="/entry/302800">302800</a>) that harbored a T-to-G transversion at position -528 with respect to the ATG start codon. <a href="#5" class="mim-tip-reference" title="Bondurand, N., Girard, M., Pingault, V., Lemort, N., Dubourg, O., Goossens, M. <strong>Human connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10.</strong> Hum. Molec. Genet. 10: 2783-2795, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11734543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11734543</a>] [<a href="https://doi.org/10.1093/hmg/10.24.2783" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11734543">Bondurand et al. (2001)</a> used gelshift experiments to show that the mutation impaired the binding of SOX10 (<a href="/entry/602229">602229</a>) to the CX32 promoter region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8757034+11734543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs104894824 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894824;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=rs104894824" 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=rs104894824" 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=RCV000011191 OR RCV000486043 OR RCV000789872 OR RCV001851787" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011191, RCV000486043, RCV000789872, RCV001851787" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011191...</a>
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<p>In 2 sibs with X-linked Charcot-Marie-Tooth disease (<a href="/entry/302800">302800</a>), <a href="#34" class="mim-tip-reference" title="Panas, M., Kalfakis, N., Karadimas, C., Vassilopoulos, D. <strong>Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene.</strong> Neurology 57: 1906-1908, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11723288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11723288</a>] [<a href="https://doi.org/10.1212/wnl.57.10.1906" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11723288">Panas et al. (2001)</a> identified a C-to-T transition at position 164 in exon 2 of the GJB1 gene, resulting in a thr55-to-ile (T55I) substitution. In addition to extremity weakness and atrophy and polyneuropathy, the patients had episodes of severe weakness lasting from hours to days, dysarthria, dysphagia, and bilateral hyperintensities of the periventricular white matter on MRI. <a href="#34" class="mim-tip-reference" title="Panas, M., Kalfakis, N., Karadimas, C., Vassilopoulos, D. <strong>Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene.</strong> Neurology 57: 1906-1908, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11723288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11723288</a>] [<a href="https://doi.org/10.1212/wnl.57.10.1906" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11723288">Panas et al. (2001)</a> noted that connexin-32 is expressed in Schwann cells, oligodendrocytes, and some neuronal populations, which may explain the CNS involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11723288" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs1555937071 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555937071;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=rs1555937071" 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=rs1555937071" 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=RCV000011192 OR RCV000538846" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011192, RCV000538846" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011192...</a>
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<p>In a patient with X-linked Charcot-Marie-Tooth disease (<a href="/entry/302800">302800</a>), <a href="#22" class="mim-tip-reference" title="Kawakami, H., Inoue, K., Sakakihara, I., Nakamura, S. <strong>Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment.</strong> Neurology 59: 923-926, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12297581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12297581</a>] [<a href="https://doi.org/10.1212/wnl.59.6.923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12297581">Kawakami et al. (2002)</a> identified a 21-bp duplication from residues 55 to 61 in exon 2 of the GJB1 gene, resulting in a 7-amino acid insertion in the first extracellular loop of the protein. The patient showed clinical cerebellar abnormalities with a normal MRI and prolonged central somatosensory conduction times. His clinically asymptomatic mother carried the mutation. The authors referred to the report by <a href="#34" class="mim-tip-reference" title="Panas, M., Kalfakis, N., Karadimas, C., Vassilopoulos, D. <strong>Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene.</strong> Neurology 57: 1906-1908, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11723288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11723288</a>] [<a href="https://doi.org/10.1212/wnl.57.10.1906" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11723288">Panas et al. (2001)</a> (see <a href="#0016">304040.0016</a>), and suggested that mutation in this area of the GJB1 gene, specifically residue 55, may lead to CNS manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12297581+11723288" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs1555937135 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555937135;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=rs1555937135" 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=rs1555937135" 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=RCV000011193 OR RCV000541816 OR RCV000789859" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011193, RCV000541816, RCV000789859" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011193...</a>
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<p><a href="#15" class="mim-tip-reference" title="Hanemann, C. O., Bergmann, C., Senderek, J., Zerres, K., Sperfeld, A.-D. <strong>Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.</strong> Arch. Neurol. 60: 605-609, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12707076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12707076</a>] [<a href="https://doi.org/10.1001/archneur.60.4.605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12707076">Hanemann et al. (2003)</a> reported a family in which 3 members were affected with X-linked Charcot-Marie-Tooth disease (<a href="/entry/302800">302800</a>). Direct sequencing of the GJB1 gene in 2 living patients identified a 3-bp deletion (304delGAG), resulting in deletion of a glutamic acid at codon 102 (glu102). In addition to classic CMT clinical findings, all 3 patients had transient CNS symptoms correlating with transient and reversible white matter lesions on MRI. CNS symptoms included paraparesis, monoparesis, tetraparesis, dysarthria, aphasia, and cranial nerve palsies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12707076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs2147944334 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2147944334;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=rs2147944334" 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=rs2147944334" 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=RCV000011194" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011194" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011194</a>
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<p>In affected members of a large family with X-linked CMT (<a href="/entry/302800">302800</a>), <a href="#16" class="mim-tip-reference" title="Houlden, H., Girard, M., Cockerell, C., Ingram, D., Wood, N. W., Goossens, M., Walker, R. W. H., Reilly, M. M. <strong>Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction.</strong> Ann. Neurol. 56: 730-734, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15470753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15470753</a>] [<a href="https://doi.org/10.1002/ana.20267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15470753">Houlden et al. (2004)</a> identified a -526G-C transversion in a highly conserved region of the nerve-specific P2 promoter of the GJB1 gene. The mutation occurs within a SOX10 (<a href="/entry/602229">602229</a>) S2 binding site, similar to the -528T-G mutation (<a href="#0015">304040.0015</a>). Functional expression studies showed that the -526G-C mutation impaired SOX10 binding, resulting in a 65% decrease in transcriptional activation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15470753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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> rs104894825 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894825;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/rs104894825?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=rs104894825" 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=rs104894825" 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=RCV000011195 OR RCV000344288 OR RCV000467010 OR RCV001271691 OR RCV001711068 OR RCV002362577" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011195, RCV000344288, RCV000467010, RCV001271691, RCV001711068, RCV002362577" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011195...</a>
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<p>In a girl with a severe early-onset form of X-linked CMT (<a href="/entry/302800">302800</a>), <a href="#29" class="mim-tip-reference" title="Liang, G. S. L., de Miguel, M., Gomez-Hernandez, J. M., Glass, J. D., Scherer, S. S., Mintz, M., Barrio, L. C., Fischbeck, K. H. <strong>Severe neuropathy with leaky connexin32 hemichannels.</strong> Ann. Neurol. 57: 749-754, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15852376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15852376</a>] [<a href="https://doi.org/10.1002/ana.20459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15852376">Liang et al. (2005)</a> identified a 766T-G transversion in the GJB1 gene, resulting in a phe235-to-cys (F235C) substitution in the carboxy tail domain of the protein. The mutation was not identified in 50 control chromosomes. The patient's asymptomatic mother also carried the mutation, but Southern blot analysis showed preferential inactivation of the mutant X-chromosome by a ratio of approximately 9 to 1. Functional expression studies demonstrated that cells with the F235C mutant protein had normal plasma membrane expression of the channel protein, but showed a reduction of the resting membrane potential of more than 40 mV, with a decrease in the threshold of activation. Cells expressing the mutant protein also showed decreased viability compared to wildtype. <a href="#29" class="mim-tip-reference" title="Liang, G. S. L., de Miguel, M., Gomez-Hernandez, J. M., Glass, J. D., Scherer, S. S., Mintz, M., Barrio, L. C., Fischbeck, K. H. <strong>Severe neuropathy with leaky connexin32 hemichannels.</strong> Ann. Neurol. 57: 749-754, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15852376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15852376</a>] [<a href="https://doi.org/10.1002/ana.20459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15852376">Liang et al. (2005)</a> concluded that the propensity of the F235C hemichannels to be open at resting membrane potential ('leaky channel') adversely affected cell viability, thus resulting in a severe phenotype. Similar in vitro findings had been reported for another GJB1 mutation (S85C; <a href="#0014">304040.0014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15852376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0021 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894826 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894826;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=rs104894826" 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=rs104894826" 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=RCV000011196 OR RCV000011197" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011196, RCV000011197" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011196...</a>
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<p>In Korean patients with X-linked CMT (<a href="/entry/302800">302800</a>), <a href="#9" class="mim-tip-reference" title="Choi, B.-O., Lee, M. S., Shin, S. H., Hwang, J. H., Choi, K.-G., Kim, W.-K., Sunwoo, I. N., Kim, N. K., Chung, K. W. <strong>Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. (Abstract)</strong> Hum. Mutat. 24: 185-186, 2004. Note: Full Article Online. Erratum: Hum. Mutat. 24: 350 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15241803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15241803</a>] [<a href="https://doi.org/10.1002/humu.9261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15241803">Choi et al. (2004)</a> identified a 407T-C transition in the GJB1 gene, resulting in a val136-to-ala (V136A) substitution. (In the original publication, <a href="#9" class="mim-tip-reference" title="Choi, B.-O., Lee, M. S., Shin, S. H., Hwang, J. H., Choi, K.-G., Kim, W.-K., Sunwoo, I. N., Kim, N. K., Chung, K. W. <strong>Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. (Abstract)</strong> Hum. Mutat. 24: 185-186, 2004. Note: Full Article Online. Erratum: Hum. Mutat. 24: 350 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15241803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15241803</a>] [<a href="https://doi.org/10.1002/humu.9261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15241803">Choi et al. (2004)</a> erroneously designated the nucleotide change as 408T-C.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15241803" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 Korean girl with Dejerine-Sottas syndrome (<a href="/entry/145900">145900</a>), <a href="#10" class="mim-tip-reference" title="Chung, K. W., Sunwoo, I. N., Kim, S. M., Park, K. D., Kim, W.-K., Kim, T. S., Koo, H., Cho, M., Lee, J., Choi, B. O. <strong>Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.</strong> Neurogenetics 6: 159-163, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15947997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15947997</a>] [<a href="https://doi.org/10.1007/s10048-005-0217-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15947997">Chung et al. (2005)</a> identified 2 mutations in 2 different genes: the V136A substitution in the GJB1 gene and an R359W mutation in the EGR2 gene (<a href="/entry/129010#0004">129010.0004</a>). She inherited the EGR2 mutation from her father, who had Charcot-Marie-Tooth disease-1D (<a href="/entry/607678">607678</a>). The GJB1 gene was de novo. The father had pes cavus and developed difficulty walking at age 8 years, but had a milder phenotype than the daughter, who had experienced gait difficulties since infancy and facial weakness. She also had bilateral hand muscle weakness and atrophy and had sensory impairment of both upper and lower extremities. <a href="#10" class="mim-tip-reference" title="Chung, K. W., Sunwoo, I. N., Kim, S. M., Park, K. D., Kim, W.-K., Kim, T. S., Koo, H., Cho, M., Lee, J., Choi, B. O. <strong>Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.</strong> Neurogenetics 6: 159-163, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15947997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15947997</a>] [<a href="https://doi.org/10.1007/s10048-005-0217-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15947997">Chung et al. (2005)</a> concluded that the more severe phenotype in the daughter was caused by an additive effect of the 2 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15947997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs483352926 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs483352926;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=rs483352926" 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=rs483352926" 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=RCV000083303" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000083303" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000083303</a>
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<p>In affected members of a large Australian family with an unusual form of X-linked CMT (<a href="/entry/302800">302800</a>), originally reported by <a href="#40" class="mim-tip-reference" title="Spira, P. J., McLeod, J. G., Evans, W. A. <strong>A spinocerebellar degeneration with X-linked inheritance.</strong> Brain 102: 27-41, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/427531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">427531</a>] [<a href="https://doi.org/10.1093/brain/102.1.27" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="427531">Spira et al. (1979)</a>, <a href="#7" class="mim-tip-reference" title="Caramins, M., Colebatch, J. G., Bainbridge, M. N., Scherer, S. S., Abrams, C. K., Hackett, E. L., Freidin, M. M., Jhangiani, S. N., Wang, M., Wu, Y., Muzny, D. M., Lindeman, R., Gibbs, R. A. <strong>Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).</strong> Hum. Molec. Genet. 22: 4329-4338, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23773993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23773993</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23773993[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/10.1093/hmg/ddt282" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23773993">Caramins et al. (2013)</a> identified a c.172C-T transition in exon 2 of the GJB1 gene, resulting in a pro58-to-ser (P58S) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the dbSNP or Exome Variant Server databases or in a local exome database, and was filtered for less than 1% in the 1000 Genomes Project database. In vitro functional expression studies in HeLa cells showed that the mutant P58S protein was localized broadly in the cytoplasm with only occasional gap junction plaque localization. The mutation reduced the number and size of gap junction plaques compared to wildtype, although conductance of the gap junctions was basically unaffected. The P58S mutant hemichannel tended to close more than wildtype at negative voltages. The phenotype of this pedigree was unique in that affected individuals had spinocerebellar ataxia and spasticity in addition to peripheral nervous system abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=427531+23773993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>REFERENCES</strong>
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[<a href="https://doi.org/10.1126/science.8266101" target="_blank">Full Text</a>]
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Caramins, M., Colebatch, J. G., Bainbridge, M. N., Scherer, S. S., Abrams, C. K., Hackett, E. L., Freidin, M. M., Jhangiani, S. N., Wang, M., Wu, Y., Muzny, D. M., Lindeman, R., Gibbs, R. A.
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<strong>Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).</strong>
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Hum. Molec. Genet. 22: 4329-4338, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23773993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23773993</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23773993[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=23773993" 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/hmg/ddt282" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2006.00724.x" target="_blank">Full Text</a>]
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Choi, B.-O., Lee, M. S., Shin, S. H., Hwang, J. H., Choi, K.-G., Kim, W.-K., Sunwoo, I. N., Kim, N. K., Chung, K. W.
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[<a href="https://doi.org/10.1002/humu.9261" target="_blank">Full Text</a>]
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Chung, K. W., Sunwoo, I. N., Kim, S. M., Park, K. D., Kim, W.-K., Kim, T. S., Koo, H., Cho, M., Lee, J., Choi, B. O.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15947997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15947997</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15947997" 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/s10048-005-0217-4" target="_blank">Full Text</a>]
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<a id="Corcos1992" class="mim-anchor"></a>
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Corcos, I. A., Lafreniere, R. G., Begy, C. R., Loch-Caruso, R., Willard, H. F., Glover, T. W.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1319395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1319395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1319395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(92)90278-z" target="_blank">Full Text</a>]
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Fairweather, N., Bell, C., Cochrane, S., Chelly, J., Wang, S., Mostacciuolo, M. L., Monaco, A. P., Haites, N. E.
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[<a href="https://doi.org/10.1093/hmg/3.1.29" target="_blank">Full Text</a>]
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Fishman, G. I., Eddy, R. L., Shows, T. B., Rosenthal, L., Leinwand, L. A.
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<strong>The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structure.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1646158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1646158</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1646158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(91)90507-b" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddq269" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.60.4.605" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01232976" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21254193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21254193</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21254193[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=21254193" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.22235" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<47::AID-HUMU8>3.0.CO;2-M" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1091/mbc.7.6.907" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.57.10.1906" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.10305" target="_blank">Full Text</a>]
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<strong>Assignment of the human connexin 32 gene (GJB1) to band Xq13.</strong>
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[<a href="https://doi.org/10.1159/000133339" target="_blank">Full Text</a>]
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Rouger, H., LeGuern, E., Birouk, N., Gouider, R., Tardieu, S., Plassart, E., Gugenheim, M., Vallat, J.-M., Louboutin, J.-P., Bouche, P., Agid, Y., Brice, A.
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:6<443::AID-HUMU5>3.0.CO;2-E" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1523/JNEUROSCI.15-12-08281.1995" target="_blank">Full Text</a>]
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Sohl, G., Nielsen, P. A., Eiberger, J., Willecke, K.
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<strong>Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12881038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12881038</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12881038" 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/10.1080/15419060302063" target="_blank">Full Text</a>]
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Spira, P. J., McLeod, J. G., Evans, W. A.
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<strong>A spinocerebellar degeneration with X-linked inheritance.</strong>
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Brain 102: 27-41, 1979.
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[<a href="https://doi.org/10.1093/brain/102.1.27" target="_blank">Full Text</a>]
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Tabaraud, F., Lagrange, E., Sindou, P., Vandenberghe, A., Levy, N., Vallat, J. M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10487913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10487913</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10487913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(sici)1097-4598(199910)22:10<1442::aid-mus16>3.0.co;2-6" target="_blank">Full Text</a>]
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Takashima, H., Nakagawa, M., Umehara, F., Hirata, K., Suehara, M., Mayumi, H., Yoshishige, K., Matsuyama, W., Saito, M., Jonosono, M., Arimura, K., Osame, M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12542510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12542510</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12542510" 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/10.1034/j.1600-0404.2003.01317.x" target="_blank">Full Text</a>]
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Willecke, K., Jungbluth, S., Dahl, E., Hennemann, H., Heynkes, R., Grzeschik, K.-H.
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<strong>Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes.</strong>
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Europ. J. Cell Biol. 53: 275-280, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1964417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1964417</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1964417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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George E. Tiller - updated : 06/22/2017
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Cassandra L. Kniffin - updated : 3/18/2014<br>Cassandra L. Kniffin - updated : 2/10/2014<br>Cassandra L. Kniffin - updated : 10/13/2011<br>Patricia A. Hartz - updated : 3/27/2008<br>Cassandra L. Kniffin - updated : 5/7/2007<br>Cassandra L. Kniffin - updated : 4/10/2006<br>Cassandra L. Kniffin - updated : 11/30/2005<br>Cassandra L. Kniffin - updated : 8/23/2005<br>Cassandra L. Kniffin - updated : 4/28/2005<br>Victor A. McKusick - updated : 7/12/2004<br>George E. Tiller - updated : 6/10/2002<br>Victor A. McKusick - updated : 4/17/2002<br>Victor A. McKusick - updated : 12/8/1999<br>Victor A. McKusick - updated : 6/3/1999<br>Victor A. McKusick - updated : 1/12/1999<br>Victor A. McKusick - updated : 12/30/1998<br>Victor A. McKusick - updated : 10/29/1998<br>Victor A. McKusick - updated : 5/5/1998<br>Victor A. McKusick - updated : 1/12/1998<br>Victor A. McKusick - updated : 5/19/1997<br>Cynthia K. Ewing - updated : 8/31/1996<br>Orest Hurko - updated : 4/4/1996<br>Orest Hurko - updated : 11/16/1995
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Victor A. McKusick : 3/18/1991
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alopez : 06/22/2017<br>carol : 08/04/2014<br>carol : 3/19/2014<br>mcolton : 3/18/2014<br>mcolton : 3/18/2014<br>ckniffin : 3/18/2014<br>carol : 2/12/2014<br>mcolton : 2/11/2014<br>ckniffin : 2/10/2014<br>carol : 3/8/2013<br>terry : 9/14/2012<br>carol : 1/12/2012<br>carol : 12/5/2011<br>carol : 10/21/2011<br>ckniffin : 10/13/2011<br>wwang : 1/28/2011<br>mgross : 3/27/2008<br>mgross : 3/27/2008<br>ckniffin : 2/29/2008<br>terry : 12/17/2007<br>wwang : 5/29/2007<br>ckniffin : 5/7/2007<br>wwang : 4/19/2006<br>ckniffin : 4/10/2006<br>joanna : 4/4/2006<br>wwang : 11/30/2005<br>ckniffin : 11/30/2005<br>wwang : 8/26/2005<br>ckniffin : 8/23/2005<br>ckniffin : 4/28/2005<br>terry : 3/3/2005<br>alopez : 7/16/2004<br>terry : 7/12/2004<br>carol : 4/30/2004<br>tkritzer : 6/9/2003<br>ckniffin : 5/28/2003<br>ckniffin : 5/28/2003<br>tkritzer : 1/8/2003<br>ckniffin : 1/3/2003<br>cwells : 6/12/2002<br>cwells : 6/12/2002<br>cwells : 6/10/2002<br>mgross : 4/25/2002<br>terry : 4/17/2002<br>carol : 12/8/1999<br>carol : 8/31/1999<br>psherman : 8/31/1999<br>jlewis : 6/9/1999<br>terry : 6/3/1999<br>mgross : 3/16/1999<br>carol : 1/14/1999<br>terry : 1/12/1999<br>carol : 1/5/1999<br>terry : 12/30/1998<br>carol : 11/2/1998<br>terry : 10/29/1998<br>carol : 10/12/1998<br>carol : 5/12/1998<br>terry : 5/5/1998<br>alopez : 1/12/1998<br>dholmes : 1/6/1998<br>mark : 9/1/1997<br>mark : 5/19/1997<br>terry : 5/19/1997<br>alopez : 4/30/1997<br>terry : 4/29/1997<br>terry : 2/26/1997<br>randy : 8/31/1996<br>terry : 8/29/1996<br>mark : 8/27/1996<br>mark : 6/25/1996<br>terry : 6/14/1996<br>mark : 4/4/1996<br>terry : 3/23/1996<br>mark : 3/9/1996<br>terry : 3/4/1996<br>carol : 12/20/1994<br>pfoster : 4/1/1994<br>mimadm : 2/27/1994<br>terry : 1/3/1994<br>carol : 10/27/1993
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<h3>
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<span class="mim-font">
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<strong>*</strong> 304040
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<h3>
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<span class="mim-font">
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GAP JUNCTION PROTEIN, BETA-1; GJB1
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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GAP JUNCTION PROTEIN, 32-KD<br />
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CONNEXIN 32; CX32<br />
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LIVER CONNEXIN
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GJB1</em></strong>
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<strong>SNOMEDCT:</strong> 111499002, 763455008;
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<strong>ICD10CM:</strong> G60.0;
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<strong>
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<em>
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Cytogenetic location: Xq13.1
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Genomic coordinates <span class="small">(GRCh38)</span> : X:71,215,239-71,225,516 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<th>
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Location
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</th>
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Phenotype
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</th>
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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Xq13.1
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<td>
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<span class="mim-font">
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Charcot-Marie-Tooth neuropathy, X-linked dominant, 1
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</td>
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<span class="mim-font">
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302800
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<span class="mim-font">
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X-linked dominant
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<td>
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<span class="mim-font">
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3
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Connexins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells (Bergoffen et al., 1993). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</h4>
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<span class="mim-text-font">
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<p>Kumar and Gilula (1986) isolated the human CX32 gene from a human liver cDNA library. By Northern blot analysis, Bergoffen et al. (1993) showed CX32 expression in liver and peripheral nerve. </p><p>Sohl et al. (2003) stated that mouse and human CX32 share 99% amino acid identity and differ at only 4 residues. They also share significant similarity in the 5-prime UTR and promoter region. Northern blot analysis detected a 1.6-kb CX32 transcript in both mouse and human. In both species, expression was highest in liver and moderate in pancreas, kidney, and brain. No expression was detected in skeletal muscle, lung, and heart. </p>
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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>Willecke et al. (1990) used a rat cDNA probe in Southern analysis of a panel of human-mouse somatic cell hybrids to map CX32 to Xp11-q13. Through analysis of somatic cell hybrids by PCR and hybridization, Fishman et al. (1991) assigned the GJA1 gene (121014) to chromosome 6 and the GJB1 gene to Xp11-q22. Structural comparisons of these genes indicated that they probably arose from a common progenitor gene. Because of a critical function, the connexins may have evolved early and have remained relatively conserved despite their disparate locations. </p><p>Using a series of somatic cell hybrid mapping panels and a rat GJB1 probe, Corcos et al. (1992) mapped the CX32 gene to proximal Xq13.1, in interval 8, as described by Lafreniere et al. (1991). By somatic cell hybrids, Hsieh et al. (1991) mapped GJB1 to Xcen-q22 and mapped the corresponding gene to the X chromosome in the mouse. Raimondi et al. (1992) refined the assignment to Xq13 by in situ hybridization. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Bergoffen et al. (1993) found CX32 expression in myelinated peripheral nerve at the nodes of Ranvier and Schmidt-Lanterman incisures. CX32 may form intracellular gap junctions that connect to the folds of Schwann cell cytoplasm, allowing the transfer of nutrients, ions, and molecules to the innermost myelin layers. </p><p>Scherer et al. (1995) demonstrated that CX32 is normally found in the paranodal myelin loops and Schmidt-Lanterman incisures of myelinating Schwann cells in the peripheral nervous system, as well as in oligodendrocytes and their processes, but not in compact myelin of the central nervous system. </p><p>Kumar and Gilula (1996) gave a general review of the gap junction communication channel. Beta-1 connexin is widely expressed in many tissues, including liver. </p><p>Bondurand et al. (2001) showed that the transcription modulator SOX10 (602229), in synergy with EGR2 (129010), strongly activates CX32 expression in vitro by directly binding to its promoter. In agreement with this finding, SOX10 and EGR2 mutants identified in patients with peripheral myelin defects failed to transactivate the CX32 promoter. </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>By direct sequencing, Bergoffen et al. (1993) identified 7 different mutations in the CX32 gene (see, e.g., 304040.0001-304040.0003) in affected persons from 8 families with X-linked dominant Charcot-Marie-Tooth disease (CMTX1; 302800). </p><p>Bone et al. (1995) described sequence analysis from 19 unrelated patients with X-linked Charcot-Marie-Tooth disease, detecting 6 novel mutations and 3 previously reported mutations (see, e.g., 304040.0003-304040.0011). Analysis of the distribution of these mutations as well as those previously reported suggested to the authors that virtually all regions of connexin 32 are important in its function. </p><p>Ionasescu et al. (1996) studied 27 families with X-linked Charcot-Marie-Tooth neuropathy. Mutations in the coding region of the CX32 gene were found in 22 families. These mutations included 4 nonsense mutations, 8 missense mutations, 2 medium-sized deletions, and 1 insertion. Most missense mutations showed a mild clinical phenotype (5 of 8), whereas all nonsense mutations, the larger of the 2 deletions, and the insertion that produced frameshifts showed severe phenotypes. No point mutations in the CX32 gene coding region were found in 5 CMTX1 families with mild clinical phenotype. In 3 of these families, positive genetic linkage with the markers of the Xq13.1 region were found; the genetic linkage of the remaining 2 families could not be evaluated because of their small size. </p><p>Omori et al. (1996) studied 4 known mutations in the connexin-32 gene: lys60 to phe, a mutation in a highly conserved cysteine residue; val139 to met (304040.0003), located in the transmembrane region; arg215 to trp, located in the cytoplasmic tail; and ala220 to ter (304040.0005), also located in the cytoplasmic tail. Since HeLa cells do not show detectable levels of gap junction intercellular communication (GJIC) or expression of any connexins, they tested the functional effects of transfecting mutant genes in HeLa cultures. The first 3 mutations were unable to restore GJIC in transfected HeLa cells (although their gene products were detectable), in contrast to normal GJIC detected with the last mutation. In addition, the dominant-negative effect was tested in doubly transfected HeLa cells and the investigators found that low expression of the mutant CX32 gene had a relatively significant effect on diminishing GJIC. Omori et al. (1996) therefore concluded that certain mutants form nonfunctional chimeric connexins with wildtype connexins. </p><p>Nelis et al. (1997) described 5 new mutations in the CX32 gene. Janssen et al. (1997) performed SSCP analysis of the CX32 gene in 121 patients selected from the larger group of 443 patients on the basis of linkage to Xq13.1, absence of the 17p12 duplication or deletion, and absence of point mutations in PMP22 and P0. They found 5 new mutations and 3 mutations previously described in other unrelated families. </p><p>In 35 unrelated CMTX patients without the 17p11.2 duplication but with median nerve conduction between 30 and 40 m/s, Rouger et al. (1997) screened for a CX32 mutation. A total of 14 mutations were found, 5 of which had not previously been reported. All but 1 of the mutations were detected by SSCP. Mutations causing CMTX have been found mostly in exon 2 of the gene. </p><p>Latour et al. (1997) identified a total of 19 separate mutations in the CX32 gene as the cause of CMTX in 21 French families. </p><p>Ainsworth et al. (1998) reported a family in which affected members with CMTX had complete deletion of the GJB1 gene with complete absence of the Cx32 gene product. The clinical phenotype in the affected individuals in this kindred did not appear to differ greatly from the phenotype observed in other individuals with missense, nonsense, or frameshift mutations in the gene. This would appear to make a dominant-negative effect of the mutation unlikely. </p><p>Ikegami et al. (1998) stated that more than 130 different mutations of the GJB1 gene, including coding and noncoding regions, had been reported in patients with X-linked CMT. In studies of 49 Japanese families with CMT1 they found 5 mutations of the GJB1 gene; 4 of which had not previously been reported. </p><p>Nelis et al. (1999) identified 163 distinct mutations in the coding region of the CX32 gene in 268 unrelated patients with hereditary peripheral neuropathy. Of these mutations, 125 were missense mutations, 1 a double missense mutation, 1 a missense mutation combined with a 1-amino acid deletion, 12 nonsense mutations, 17 frameshift mutations, and 6 in-frame deletions and insertions. Further, in 1 case a complex rearrangement in the coding region of CX32 was found. Most missense mutations showed a mild clinical phenotype, whereas all nonsense mutations and frameshift deletion/insertions showed severe phenotypes. Forty-four percent of the codons were mutated in more than 1 patient. At codon 22, 4 distinct mutations were identified in 20 unrelated patients. In 2 X-linked families not showing mutations in the coding region of CX32, mutations in the noncoding region were identified by Ionasescu et al. (1996). In addition to the 163 mutations tabulated for the CX32 gene in patients with hereditary peripheral neuropathy, Nelis et al. (1999) identified 58 mutations in the MPZ gene (159440) and 27 mutations in the PMP22 gene (601097). </p><p>GJB1 is expressed in both the peripheral and the central nervous system. In consequence, it is not surprising that patients with CMTX1 and specific GJB1 mutations have both peripheral neuropathy and a mild or transient brain disorder (Paulson et al., 2002; Hanemann et al., 2003; Takashima et al., 2003). </p><p>Kleopa et al. (2006) reported 2 novel mutations in the GJB1 gene that segregated with CMTX1 in 2 unrelated families. In vitro expression studies and immunohistochemistry showed that the mutant proteins were retained within the Golgi apparatus and failed to reach the cell membrane where gap junctions are normally formed. </p><p>Casasnovas et al. (2006) identified 34 GJB1 mutations, including 6 novel mutations, in 59 patients from 34 CMT families of Spanish or Portuguese descent. The extracellular loop domains were affected in 64.6% of mutations. </p><p>In 28 (5.3%) of 527 unrelated Korean families with CMT, Kim et al. (2012) identified 23 different mutations in the GJB1 gene (see, e.g., 304040.0005 and 304040.0011). Nine of the mutations were novel. Mutations affected the extracellular 2 (EC2) domain of the protein in 44% of families. </p><p>In affected members of a large Australian family with an unusual form of X-linked CMT, originally reported by Spira et al. (1979), Caramins et al. (2013) identified a missense mutation in the GJB1 gene (304040.0022). </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>The chemokine monocyte chemoattractant protein-1 (MCP1; 158105) had been shown to be a mediator of macrophage-related neural damage in models of 2 distinct inherited neuropathies, Charcot-Marie-Tooth (CMT) 1A (118220) and 1B (118200). In mice deficient in connexin-32 (Cx32def), Groh et al. (2010) investigated the role of the chemokine in macrophage immigration and neural damage by crossbreeding the Cx32def mice with MCP1 knockout mutants. In Cx32def mutants typically expressing increased levels of MCP1, macrophage numbers were strongly elevated, caused by an MCP1-mediated influx of hematogenous macrophages. In contrast, heterozygous deletion of MCP1 led to reduced numbers of phagocytosing macrophages and an alleviation of demyelination. Whereas alleviated demyelination was transient, axonal damage was persistently improved and even robust axonal sprouting was detectable at 12 months. Other axon-related features were alleviated electrophysiologic parameters, reduced muscle denervation and atrophy, and increased muscle strength. Similar to models for CMT1A and CMT1B, MEK-ERK (see 176872; see 601795) signaling mediated MCP1 expression in Cx32-deficient Schwann cells. Blocking this pathway by the inhibitor CI-1040 caused reduced MCP1 expression, attenuation of macrophage increase, and amelioration of myelin- and axon-related alterations. Groh et al. (2010) concluded that attenuation of MCP1 upregulation by inhibiting ERK phosphorylation could be a promising approach to treat CMT1X and other inherited peripheral neuropathies. </p>
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</span>
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<div>
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<br />
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<div>
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<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>22 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GJB1, ARG142TRP
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<br />
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SNP: rs104894810,
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gnomAD: rs104894810,
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ClinVar: RCV000011176, RCV000236641, RCV000474456
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family with X-linked Charcot-Marie-Tooth disease (302800), Bergoffen et al. (1993) found a C-to-T transition in codon 142 of the CX32 gene, resulting in substitution of tryptophan for arginine. </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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<h4>
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<span class="mim-font">
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<strong>.0002 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
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</span>
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</h4>
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</div>
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|
|
<div>
|
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<span class="mim-text-font">
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GJB1, PRO172SER
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|
<br />
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|
|
|
SNP: rs104894811,
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|
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|
|
gnomAD: rs104894811,
|
|
|
|
|
|
ClinVar: RCV000011177, RCV001053029, RCV001090308
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with X-linked Charcot-Marie-Tooth disease (302800), Bergoffen et al. (1993) found a G-to-A transition in codon 172 of the CX32 gene, resulting in substitution of serine for proline. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
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<div>
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|
<br />
|
|
</div>
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|
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</div>
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<div>
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>.0003 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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|
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<div>
|
|
<span class="mim-text-font">
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|
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|
GJB1, VAL139MET
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|
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|
|
<br />
|
|
|
|
SNP: rs104894812,
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|
|
|
|
|
gnomAD: rs104894812,
|
|
|
|
|
|
ClinVar: RCV000011178, RCV000545060, RCV000789810, RCV002274895, RCV002326673
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with X-linked Charcot-Marie-Tooth disease (302800), Bergoffen et al. (1993) found a G-to-A transition in codon 139 of the CX32 gene, resulting in a substitution of valine for methionine. The identical mutation was found in an unrelated patient by Bone et al. (1995). </p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
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|
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<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJB1, TRP133ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894813,
|
|
|
|
|
|
|
|
ClinVar: RCV000011179
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with X-linked Charcot-Marie-Tooth disease (302800), Bone et al. (1995) found a T-to-C transition in codon 133 of the CX32 gene, resulting in a substitution of arginine for tryptophan. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJB1, ARG220TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894814,
|
|
|
|
|
|
|
|
ClinVar: RCV000011180, RCV000236998, RCV000466155, RCV002362576
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with X-linked Charcot-Marie-Tooth disease (302800), Fairweather et al. (1994) found a C-to-T transition in codon 220 of the CX32 gene, resulting in a stop signal in place of an arginine (R220X). The same mutation was found in an unrelated Virginia family by Bone et al. (1995). </p><p>In a Korean patient with CMTX1, Kim et al. (2012) identified a c.658C-T transition in the GJB1 gene, resulting in an R220X substitution in the C-terminal domain. The patient had a demyelinating neuropathy. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJB1, ILE30ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894817,
|
|
|
|
|
|
|
|
ClinVar: RCV000011181
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with X-linked Charcot-Marie-Tooth disease (302800), Bone et al. (1995) found a T-to-A transversion in codon 30 of the CX32 gene, resulting in the substitution of asparagine for isoleucine. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJB1, LEU156ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894818,
|
|
|
|
|
|
|
|
ClinVar: RCV000011182, RCV000256065, RCV000463876, RCV002326674
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with X-linked Charcot-Marie-Tooth disease (302800), Bone et al. (1995) found a T-to-G transversion in codon 156 of the CX32 gene, resulting in the substitution of arginine for leucine. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJB1, TYR65CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894819,
|
|
|
|
|
|
|
|
ClinVar: RCV000011183, RCV001245963, RCV001659691
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with X-linked Charcot-Marie-Tooth disease (302800), Bone et al. (1995) found an A-to-G transition in codon 65 of the CX32 gene, resulting in a substitution of cysteine for tyrosine. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJB1, VAL13LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894820,
|
|
|
|
|
|
gnomAD: rs104894820,
|
|
|
|
|
|
ClinVar: RCV000011184
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with X-linked Charcot-Marie-Tooth disease (302800), Bone et al. (1995) found a G-to-T transversion in codon 13 of the CX32 gene, resulting in a substitution of leucine for valine. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJB1, 1-BP DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1602349316,
|
|
|
|
|
|
|
|
ClinVar: RCV000011185, RCV000789816
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with X-linked Charcot-Marie-Tooth disease (302800), Bone et al. (1995) found a deletion of thymidine residue in codon 137 of CX32, resulting in a frameshift mutation which predicted a truncated 194-amino acid protein with the last 58 amino acids starting at codon 137 altered from wildtype. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJB1, VAL95MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894821,
|
|
|
|
|
|
|
|
ClinVar: RCV000011186, RCV000168221, RCV000235924, RCV000789817, RCV002433451
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with X-linked Charcot-Marie-Tooth disease (302800), Bone et al. (1995) found a G-to-A transition in codon 95 of the CX32 gene, resulting in the substitution of methionine for valine (V95M). </p><p>Montenegro et al. (2011) reported the use of exome sequencing to identify the V95M mutation in affected members of a large family with Charcot-Marie-Tooth disease and a questionable inheritance pattern. Affected individuals had classic features of the disease, with onset between ages 14 and 40 years of distal sensory impairment and muscle weakness and atrophy affecting the upper and lower limbs. Nerve conduction velocities were in the intermediate range. </p><p>In a Korean family with CMTX1, Kim et al. (2012) identified a c.283G-A transition in the GJB1 gene, resulting in a V95M substitution at a highly conserved residue in the TM2 domain. The patients had a demyelinating neuropathy. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJB1, ASN205SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894822,
|
|
|
|
|
|
|
|
ClinVar: RCV000011187, RCV000537008, RCV000991856
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Since CX32 is expressed not only in Schwann cells in the peripheral nervous system but also in oligodendrocytes in the central nervous system, Bahr et al. (1999) examined a CMTX1 (302800) family for evidence of CNS involvement. The family had an asn205-to-ser mutation involving the fourth transmembrane domain of CX32. The patients showed typical clinical and electrophysiologic abnormalities in the peripheral nervous system, but, in addition, visual, acoustic, and motor pathways of the CNS were affected subclinically. This was indicated by pathologic changes in visual evoked potentials, brainstem auditory evoked potentials, and central motor evoked potentials. They suggested that abnormal electrophysiologic findings in CNS pathway examinations should raise the suspicion of CMTX and a search for mutations in the GJB1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJB1, 367G-T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1602349143,
|
|
|
|
|
|
|
|
ClinVar: RCV000011188, RCV000789249
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 71-year-old woman with X-linked Charcot-Marie-Tooth disease (302800), Tabaraud et al. (1999) identified a truncating mutation, GAG to TAG at nucleotide 367, in the GJB1 gene. The mutation led to termination by a glutamic acid in codon position 102 instead of codon 283 for the normal protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJB1, SER85CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894823,
|
|
|
|
|
|
|
|
ClinVar: RCV000011189, RCV000789235
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Janssen et al. (1997) identified a C-to-G transversion in the GJB1 gene, resulting in a ser85-to-cys (S85C) substitution, associated with X-linked Charcot-Marie-Tooth disease (302800). </p><p>Abrams et al. (2002) showed that expression of the S85C mutation resulted in large, relatively nonselective, voltage-dependent currents not seen in oocytes expressing wildtype Cx32. The findings suggested that the S85C mutant has a much greater propensity to form conducting hemichannels than does wildtype Cx32. The authors suggested that the resulting increase in membrane permeability may prevent normal functioning of the Schwann cells and peripheral nerves of patients harboring this mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJB1, -528T-G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1003232768,
|
|
|
|
|
|
|
|
ClinVar: RCV000011190, RCV005089225
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Ionasescu et al. (1996) described a family with X-linked CMT (302800) that harbored a T-to-G transversion at position -528 with respect to the ATG start codon. Bondurand et al. (2001) used gelshift experiments to show that the mutation impaired the binding of SOX10 (602229) to the CX32 promoter region. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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GJB1, THR55ILE
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<br />
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SNP: rs104894824,
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ClinVar: RCV000011191, RCV000486043, RCV000789872, RCV001851787
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 sibs with X-linked Charcot-Marie-Tooth disease (302800), Panas et al. (2001) identified a C-to-T transition at position 164 in exon 2 of the GJB1 gene, resulting in a thr55-to-ile (T55I) substitution. In addition to extremity weakness and atrophy and polyneuropathy, the patients had episodes of severe weakness lasting from hours to days, dysarthria, dysphagia, and bilateral hyperintensities of the periventricular white matter on MRI. Panas et al. (2001) noted that connexin-32 is expressed in Schwann cells, oligodendrocytes, and some neuronal populations, which may explain the CNS involvement. </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>.0017 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GJB1, 21-BP DUP
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<br />
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SNP: rs1555937071,
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ClinVar: RCV000011192, RCV000538846
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with X-linked Charcot-Marie-Tooth disease (302800), Kawakami et al. (2002) identified a 21-bp duplication from residues 55 to 61 in exon 2 of the GJB1 gene, resulting in a 7-amino acid insertion in the first extracellular loop of the protein. The patient showed clinical cerebellar abnormalities with a normal MRI and prolonged central somatosensory conduction times. His clinically asymptomatic mother carried the mutation. The authors referred to the report by Panas et al. (2001) (see 304040.0016), and suggested that mutation in this area of the GJB1 gene, specifically residue 55, may lead to CNS manifestations. </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>.0018 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GJB1, 3-BP DEL, 304GAG
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<br />
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SNP: rs1555937135,
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ClinVar: RCV000011193, RCV000541816, RCV000789859
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>Hanemann et al. (2003) reported a family in which 3 members were affected with X-linked Charcot-Marie-Tooth disease (302800). Direct sequencing of the GJB1 gene in 2 living patients identified a 3-bp deletion (304delGAG), resulting in deletion of a glutamic acid at codon 102 (glu102). In addition to classic CMT clinical findings, all 3 patients had transient CNS symptoms correlating with transient and reversible white matter lesions on MRI. CNS symptoms included paraparesis, monoparesis, tetraparesis, dysarthria, aphasia, and cranial nerve palsies. </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 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GJB1, -526G-C
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<br />
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SNP: rs2147944334,
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ClinVar: RCV000011194
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In affected members of a large family with X-linked CMT (302800), Houlden et al. (2004) identified a -526G-C transversion in a highly conserved region of the nerve-specific P2 promoter of the GJB1 gene. The mutation occurs within a SOX10 (602229) S2 binding site, similar to the -528T-G mutation (304040.0015). Functional expression studies showed that the -526G-C mutation impaired SOX10 binding, resulting in a 65% decrease in transcriptional activation. </p>
|
|
</span>
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|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0020 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GJB1, PHE235CYS
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<br />
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SNP: rs104894825,
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gnomAD: rs104894825,
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ClinVar: RCV000011195, RCV000344288, RCV000467010, RCV001271691, RCV001711068, RCV002362577
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a girl with a severe early-onset form of X-linked CMT (302800), Liang et al. (2005) identified a 766T-G transversion in the GJB1 gene, resulting in a phe235-to-cys (F235C) substitution in the carboxy tail domain of the protein. The mutation was not identified in 50 control chromosomes. The patient's asymptomatic mother also carried the mutation, but Southern blot analysis showed preferential inactivation of the mutant X-chromosome by a ratio of approximately 9 to 1. Functional expression studies demonstrated that cells with the F235C mutant protein had normal plasma membrane expression of the channel protein, but showed a reduction of the resting membrane potential of more than 40 mV, with a decrease in the threshold of activation. Cells expressing the mutant protein also showed decreased viability compared to wildtype. Liang et al. (2005) concluded that the propensity of the F235C hemichannels to be open at resting membrane potential ('leaky channel') adversely affected cell viability, thus resulting in a severe phenotype. Similar in vitro findings had been reported for another GJB1 mutation (S85C; 304040.0014). </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>.0021 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
DEJERINE-SOTTAS NEUROPATHY, INCLUDED
|
|
</span>
|
|
</div>
|
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<div>
|
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<span class="mim-text-font">
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|
GJB1, VAL136ALA
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<br />
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|
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SNP: rs104894826,
|
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|
|
ClinVar: RCV000011196, RCV000011197
|
|
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|
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</span>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In Korean patients with X-linked CMT (302800), Choi et al. (2004) identified a 407T-C transition in the GJB1 gene, resulting in a val136-to-ala (V136A) substitution. (In the original publication, Choi et al. (2004) erroneously designated the nucleotide change as 408T-C.) </p><p>In a Korean girl with Dejerine-Sottas syndrome (145900), Chung et al. (2005) identified 2 mutations in 2 different genes: the V136A substitution in the GJB1 gene and an R359W mutation in the EGR2 gene (129010.0004). She inherited the EGR2 mutation from her father, who had Charcot-Marie-Tooth disease-1D (607678). The GJB1 gene was de novo. The father had pes cavus and developed difficulty walking at age 8 years, but had a milder phenotype than the daughter, who had experienced gait difficulties since infancy and facial weakness. She also had bilateral hand muscle weakness and atrophy and had sensory impairment of both upper and lower extremities. Chung et al. (2005) concluded that the more severe phenotype in the daughter was caused by an additive effect of the 2 mutations. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJB1, PRO58SER
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs483352926,
|
|
|
|
|
|
|
|
ClinVar: RCV000083303
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large Australian family with an unusual form of X-linked CMT (302800), originally reported by Spira et al. (1979), Caramins et al. (2013) identified a c.172C-T transition in exon 2 of the GJB1 gene, resulting in a pro58-to-ser (P58S) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the dbSNP or Exome Variant Server databases or in a local exome database, and was filtered for less than 1% in the 1000 Genomes Project database. In vitro functional expression studies in HeLa cells showed that the mutant P58S protein was localized broadly in the cytoplasm with only occasional gap junction plaque localization. The mutation reduced the number and size of gap junction plaques compared to wildtype, although conductance of the gap junctions was basically unaffected. The P58S mutant hemichannel tended to close more than wildtype at negative voltages. The phenotype of this pedigree was unique in that affected individuals had spinocerebellar ataxia and spasticity in addition to peripheral nervous system abnormalities. </p>
|
|
</span>
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</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">
|
|
Abrams, C. K., Bennett, M. V. L., Verselis, V. K., Bargiello, T. A.
|
|
<strong>Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease.</strong>
|
|
Proc. Nat. Acad. Sci. 99: 3980-3984, 2002.
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[PubMed: 11891346]
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[Full Text: https://doi.org/10.1073/pnas.261713499]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ainsworth, P. J., Bolton, C. F., Murphy, B. C., Stuart, J. A., Hahn, A. F.
|
|
<strong>Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene.</strong>
|
|
Hum. Genet. 103: 242-244, 1998.
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[PubMed: 9760211]
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[Full Text: https://doi.org/10.1007/s004390050812]
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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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|
Bahr, M., Andres, F., Timmerman, V., Nelis, M. E., Van Broeckhoven, C., Dichgans, J.
|
|
<strong>Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an asn205-to-ser mutation in the connexin 32 gene.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 66: 202-206, 1999.
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[PubMed: 10071100]
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[Full Text: https://doi.org/10.1136/jnnp.66.2.202]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Bergoffen, J., Scherer, S. S., Wang, S., Oronzi Scott, M., Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., Fischbeck, K. H.
|
|
<strong>Connexin mutations in X-linked Charcot-Marie-Tooth disease.</strong>
|
|
Science 262: 2039-2042, 1993.
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[PubMed: 8266101]
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[Full Text: https://doi.org/10.1126/science.8266101]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Bondurand, N., Girard, M., Pingault, V., Lemort, N., Dubourg, O., Goossens, M.
|
|
<strong>Human connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10.</strong>
|
|
Hum. Molec. Genet. 10: 2783-2795, 2001.
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[PubMed: 11734543]
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[Full Text: https://doi.org/10.1093/hmg/10.24.2783]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Bone, L. J., Dahl, N., Lensch, M. W., Chance, P. F., Kelly, T., Le Guern, E., Magi, S., Parry, G., Shapiro, H., Wang, S., Fischbeck, K. H.
|
|
<strong>New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.</strong>
|
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Neurology 45: 1863-1866, 1995.
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|
|
[PubMed: 7477983]
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[Full Text: https://doi.org/10.1212/wnl.45.10.1863]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Caramins, M., Colebatch, J. G., Bainbridge, M. N., Scherer, S. S., Abrams, C. K., Hackett, E. L., Freidin, M. M., Jhangiani, S. N., Wang, M., Wu, Y., Muzny, D. M., Lindeman, R., Gibbs, R. A.
|
|
<strong>Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).</strong>
|
|
Hum. Molec. Genet. 22: 4329-4338, 2013.
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|
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|
|
[PubMed: 23773993]
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[Full Text: https://doi.org/10.1093/hmg/ddt282]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Casasnovas, C., Banchs, I., Corral, J., Martinez-Matos, J. A., Volpini, V.
|
|
<strong>Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.</strong>
|
|
Clin. Genet. 70: 516-523, 2006. Note: Erratum: Clin. Genet. 71: 194 only, 2007. Erratum: Clin. Genet. 73: 196 only, 2008.
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[PubMed: 17100997]
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|
[Full Text: https://doi.org/10.1111/j.1399-0004.2006.00724.x]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Choi, B.-O., Lee, M. S., Shin, S. H., Hwang, J. H., Choi, K.-G., Kim, W.-K., Sunwoo, I. N., Kim, N. K., Chung, K. W.
|
|
<strong>Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. (Abstract)</strong>
|
|
Hum. Mutat. 24: 185-186, 2004. Note: Full Article Online. Erratum: Hum. Mutat. 24: 350 only, 2004.
|
|
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|
|
|
[PubMed: 15241803]
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|
|
[Full Text: https://doi.org/10.1002/humu.9261]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Chung, K. W., Sunwoo, I. N., Kim, S. M., Park, K. D., Kim, W.-K., Kim, T. S., Koo, H., Cho, M., Lee, J., Choi, B. O.
|
|
<strong>Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.</strong>
|
|
Neurogenetics 6: 159-163, 2005.
|
|
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|
|
|
[PubMed: 15947997]
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|
|
[Full Text: https://doi.org/10.1007/s10048-005-0217-4]
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</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
|
|
Corcos, I. A., Lafreniere, R. G., Begy, C. R., Loch-Caruso, R., Willard, H. F., Glover, T. W.
|
|
<strong>Refined localization of human connexin 32 gene locus, GJB1, to Xq13.1.</strong>
|
|
Genomics 13: 479-480, 1992.
|
|
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|
|
|
[PubMed: 1319395]
|
|
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|
|
[Full Text: https://doi.org/10.1016/0888-7543(92)90278-z]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Fairweather, N., Bell, C., Cochrane, S., Chelly, J., Wang, S., Mostacciuolo, M. L., Monaco, A. P., Haites, N. E.
|
|
<strong>Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).</strong>
|
|
Hum. Molec. Genet. 3: 29-34, 1994. Note: Erratum: Hum. Molec. Genet. 3: 1034 only, 1994.
|
|
|
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|
|
[PubMed: 8162049]
|
|
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|
|
[Full Text: https://doi.org/10.1093/hmg/3.1.29]
|
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|
</p>
|
|
</li>
|
|
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|
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George E. Tiller - updated : 06/22/2017<br>Cassandra L. Kniffin - updated : 3/18/2014<br>Cassandra L. Kniffin - updated : 2/10/2014<br>Cassandra L. Kniffin - updated : 10/13/2011<br>Patricia A. Hartz - updated : 3/27/2008<br>Cassandra L. Kniffin - updated : 5/7/2007<br>Cassandra L. Kniffin - updated : 4/10/2006<br>Cassandra L. Kniffin - updated : 11/30/2005<br>Cassandra L. Kniffin - updated : 8/23/2005<br>Cassandra L. Kniffin - updated : 4/28/2005<br>Victor A. McKusick - updated : 7/12/2004<br>George E. Tiller - updated : 6/10/2002<br>Victor A. McKusick - updated : 4/17/2002<br>Victor A. McKusick - updated : 12/8/1999<br>Victor A. McKusick - updated : 6/3/1999<br>Victor A. McKusick - updated : 1/12/1999<br>Victor A. McKusick - updated : 12/30/1998<br>Victor A. McKusick - updated : 10/29/1998<br>Victor A. McKusick - updated : 5/5/1998<br>Victor A. McKusick - updated : 1/12/1998<br>Victor A. McKusick - updated : 5/19/1997<br>Cynthia K. Ewing - updated : 8/31/1996<br>Orest Hurko - updated : 4/4/1996<br>Orest Hurko - updated : 11/16/1995
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Victor A. McKusick : 3/18/1991
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