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<title>
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Entry
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- *125645 - DESMOCOLLIN 2; DSC2
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- OMIM
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<p>
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<span class="h4">*125645</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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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/125645">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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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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<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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<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=ENSG00000134755;t=ENST00000280904" 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=1824" 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=125645" 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=ENSG00000134755;t=ENST00000280904" 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_001406506,NM_001406507,NM_004949,NM_024422" 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_024422" 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=125645" 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=00512&isoform_id=00512_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/DSC2" 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/30508,30509,461968,13435364,13435366,38648769,51476184,52545958,119359049,119359051,119621655,119621656,124013832,124013834,124013836,158261649,194384794,2239796205,2239796450" 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/Q02487" 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=1824" 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=ENSG00000134755;t=ENST00000280904" 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=DSC2" 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=DSC2" 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+1824" 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/DSC2" 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:1824" 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/1824" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr18&hgg_gene=ENST00000280904.11&hgg_start=31058840&hgg_end=31102421&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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3036" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:3036" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=125645[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=125645[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/DSC2/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000134755" 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=DSC2" 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=DSC2" 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=DSC2" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.arvcdatabase.info" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=DSC2&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/PA27489" 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">
|
|
<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:3036" 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:103221" 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/DSC2#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:103221" 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/1824/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=1824" 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-031116-55" 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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<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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|
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
|
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</span>
|
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1824" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=DSC2&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>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
125645
|
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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>
|
|
<span class="mim-font">
|
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|
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DESMOCOLLIN 2; DSC2
|
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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">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
DESMOCOLLIN 3, FORMERLY; DSC3, FORMERLY<br />
|
|
DESMOSOMAL GLYCOPROTEIN II/III; DG2/3; DG2
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=DSC2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DSC2</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/18/113?start=-3&limit=10&highlight=113">18q12.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr18:31058840-31102421&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">18:31,058,840-31,102,421</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/18/113?start=-3&limit=10&highlight=113">
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Arrhythmogenic right ventricular dysplasia 11
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Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>The cadherins are a superfamily of calcium-dependent glycoproteins that are cell adhesion molecules. Two families of cadherins, the desmocollins and the desmogleins, are found only in the desmosome type of cell-cell junction. Desmosomal glycoproteins II and III are splice variants of the same gene, having relative masses of 120,000 and 100,000, respectively. Also see DSG1 (<a href="/entry/125670">125670</a>).</p><p><a href="#4" class="mim-tip-reference" title="De Bortoli, M., Beffagna, G., Bauce, B., Lorenzon, A., Smaniotto, G., Rigato, I., Calore, M., Li Mura, I. E. A., Basso, C., Thiene, G., Lanfranchi, G., Danieli, G. A., Nava, A., Rampazzo, A. <strong>The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.</strong> Europ. J. Hum. Genet. 18: 776-782, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20197793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20197793</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20197793[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20197793">De Bortoli et al. (2010)</a> studied DSC2 expression in human tissues and found that almost all analyzed samples, including heart, pancreas, lung, placenta, brain, skeletal muscle, liver, and kidney, showed expression of both DSC2 splice forms, DSC2a and DSC2b. All of the tissues showed different expression levels of the 2 isoforms, and <a href="#4" class="mim-tip-reference" title="De Bortoli, M., Beffagna, G., Bauce, B., Lorenzon, A., Smaniotto, G., Rigato, I., Calore, M., Li Mura, I. E. A., Basso, C., Thiene, G., Lanfranchi, G., Danieli, G. A., Nava, A., Rampazzo, A. <strong>The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.</strong> Europ. J. Hum. Genet. 18: 776-782, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20197793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20197793</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20197793[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20197793">De Bortoli et al. (2010)</a> noted that in the heart, in contrast to other tissues, DSC2b shows higher expression than DSC2a. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20197793" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#6" class="mim-tip-reference" title="Greenwood, M. D., Marsden, M. D., Cowley, C. M. E., Sahota, V. K., Buxton, R. S. <strong>Exon-intron organization of the human type 2 desmocollin gene (DSC2): desmocollin gene structure is closer to 'classical' cadherins than to desmogleins.</strong> Genomics 44: 330-335, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9325054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9325054</a>] [<a href="https://doi.org/10.1006/geno.1997.4894" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9325054">Greenwood et al. (1997)</a> found that the human DSC2 gene, which codes for the most widely distributed form of desmocollins, contains 17 exons ranging in size from 46 to 258 bp and spans more than 32 kb of DNA. Exon 16 is alternatively spliced, giving rise to the a and b forms of the protein. A remarkable degree of conservation of intron position with other cadherins was observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9325054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#1" class="mim-tip-reference" title="Arnemann, J., Spurr, N. K., Wheeler, G. N., Parker, A. E., Buxton, R. S. <strong>Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP).</strong> Genomics 10: 640-645, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1889810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1889810</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90446-l" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1889810">Arnemann et al. (1991)</a> assigned the single gene responsible for DG II/III to the short arm of chromosome 9 by the study of somatic cell hybrids; however, <a href="#8" class="mim-tip-reference" title="King, I. A., Arnemann, J., Spurr, N. K., Buxton, R. S. <strong>Cloning of the cDNA (DSC1) coding for human type 1 desmocollin and its assignment to chromosome 18.</strong> Genomics 18: 185-194, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8288219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8288219</a>] [<a href="https://doi.org/10.1006/geno.1993.1453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8288219">King et al. (1993)</a> cited unpublished data indicating that DSC3 is in fact not on 9p but rather on chromosome 18 where type 1 desmocollin (DSC1; <a href="/entry/125643">125643</a>) is located. Tight linkage between the mouse homologs of NCAD (<a href="/entry/114020">114020</a>), DSG1 (<a href="/entry/125670">125670</a>), TTR (<a href="/entry/176300">176300</a>), and DSC3, all of which are located in a region of mouse chromosome 18 with homology to human 18q, suggested that DSC3 was probably located on 18q12.1. <a href="#3" class="mim-tip-reference" title="Buxton, R. S., Wheeler, G. N., Pidsley, S. C., Marsden, M. D., Adams, M. J., Jenkins, N. A., Gilbert, D. J., Copeland, N. G. <strong>Mouse desmocollin (Dsc3) and desmoglein (Dsg1) genes are closely linked in the proximal region of chromosome 18.</strong> Genomics 21: 510-516, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959727</a>] [<a href="https://doi.org/10.1006/geno.1994.1309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959727">Buxton et al. (1994)</a> found that the human DSC3 gene maps to chromosome 18 by PCR amplification of DNA from a panel of rodent/human somatic cell hybrids. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7959727+8288219+1889810" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#2" class="mim-tip-reference" title="Buxton, R. S., Cowin, P., Franke, W. W., Garrod, D. R., Green, K. J., King, I. A., Koch, P. J., Magee, A. I., Rees, D. A., Stanley, J. R., Steinberg, M. S. <strong>Nomenclature of the desmosomal cadherins.</strong> J. Cell Biol. 121: 481-483, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486729</a>] [<a href="https://doi.org/10.1083/jcb.121.3.481" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8486729">Buxton et al. (1993)</a> proposed that the gene encoding desmocollin DG2/3 be symbolized DSC3, since it is the human ortholog of bovine desmocollin type 3. No human equivalent of bovine type 2 desmocollin had been described. Each desmocollin gene codes for 2 products differing by approximately 6 kD, derived from alternatively spliced transcripts from single genes. This results in the inclusion of a 46-bp exon containing an in-frame stop codon in the mRNA encoding the smaller form. The larger form is designated 'a'; the smaller, 'b.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8486729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Familial Arrhythmogenic Right Ventricular Dysplasia 11</em></strong></p><p>
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In affected members of 4 unrelated families with arrhythmogenic right ventricular dysplasia-11 (ARVD11; <a href="/entry/610476">610476</a>), <a href="#10" class="mim-tip-reference" title="Syrris, P., Ward, D., Evans, A., Asimaki, A., Gandjbakhch, E., Sen-Chowdhry, S., McKenna, W. J. <strong>Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.</strong> Am. J. Hum. Genet. 79: 978-984, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17033975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17033975</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17033975[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/509122" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17033975">Syrris et al. (2006)</a> identified 2 different heterozygous mutations in the DSC2 gene (<a href="#0001">125645.0001</a> and <a href="#0002">125645.0002</a>). Both mutations resulted in frameshifts and premature termination of the desmocollin-2 protein. Disease penetrance was incomplete. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17033975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Heuser, A., Plovie, E. R., Ellinor, P. T., Grossmann, K. S., Shin, J. T., Wichter, T., Basson, C. T., Lerman, B. B., Sasse-Klaassen, S., Thierfelder, L., MacRae, C. A., Gerull, B. <strong>Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.</strong> Am. J. Hum. Genet. 79: 1081-1088, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17186466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17186466</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17186466[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/509044" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17186466">Heuser et al. (2006)</a> investigated 88 unrelated patients with ARVC for mutations in DSC2. They identified a heterozygous splice acceptor site mutation in intron 5 (<a href="#0003">125645.0003</a>) of the DSC2 gene, which led to the use of a cryptic splice acceptor site and the creation of a downstream premature termination codon. Quantitative analysis of cardiac DSC2 expression in patient specimens revealed a marked reduction in the abundance of the mutant transcript. Morpholino knockdown in zebrafish embryos revealed a requirement for dsc2 in the establishment of the normal myocardial structure and function, with reduced desmosomal plaque area, loss of the desmosome extracellular electron-dense midlines, and associated myocardial contractility defects. These data identified DSC2 mutations as a cause of ARVC in humans and demonstrated that physiologic levels of DSC2 are crucial for normal cardiac desmosome formation, early cardiac morphogenesis, and cardiac function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17186466" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="De Bortoli, M., Beffagna, G., Bauce, B., Lorenzon, A., Smaniotto, G., Rigato, I., Calore, M., Li Mura, I. E. A., Basso, C., Thiene, G., Lanfranchi, G., Danieli, G. A., Nava, A., Rampazzo, A. <strong>The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.</strong> Europ. J. Hum. Genet. 18: 776-782, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20197793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20197793</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20197793[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20197793">De Bortoli et al. (2010)</a> detected the 2-bp insertion (<a href="#0002">125645.0002</a>), which they designated A897KfsX4, in 5 unrelated Italian ARVD probands, 4 of whom were known to carry mutations in other ARVD genes as well. The A897KfsX4 variant was also found in 6 of 400 control chromosomes (allele frequency, 1.5%). Noting that the A897KfsX4 variation affects only the DSC2a isoform and not DSC2b, which shows higher expression in the heart than does DSC2a, <a href="#4" class="mim-tip-reference" title="De Bortoli, M., Beffagna, G., Bauce, B., Lorenzon, A., Smaniotto, G., Rigato, I., Calore, M., Li Mura, I. E. A., Basso, C., Thiene, G., Lanfranchi, G., Danieli, G. A., Nava, A., Rampazzo, A. <strong>The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.</strong> Europ. J. Hum. Genet. 18: 776-782, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20197793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20197793</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20197793[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20197793">De Bortoli et al. (2010)</a> suggested that relative deficiency of DSC2a might be compensated for by DSC2b and that A897KfsX4 should be considered a rare polymorphism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20197793" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>ARVD11 and Mild Palmoplantar Keratoderma with or without Woolly Hair</em></strong></p><p>
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In 2 Pakistani sibs with ARVD with left ventricular involvement as well as mild palmoplantar keratoderma and woolly hair, in whom homozygosity mapping excluded the involvement of the JUP (<a href="/entry/173325">173325</a>), DSP (<a href="/entry/125647">125647</a>), and PKP2 (<a href="/entry/602861">602861</a>) genes, <a href="#9" class="mim-tip-reference" title="Simpson, M. A., Mansour, S., Ahnood, D., Kalidas, K., Patton, M. A., McKenna, W. J., Behr, E. R., Crosby, A. H. <strong>Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.</strong> Cardiology 113: 28-34, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18957847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18957847</a>] [<a href="https://doi.org/10.1159/000165696" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18957847">Simpson et al. (2009)</a> identified homozygosity for a 1-bp deletion in the DSC2 gene (<a href="#0004">125645.0004</a>). The unaffected first-cousin parents and an unaffected sister were heterozygous carriers of the mutation, which was not found in 300 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18957847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Canadian Hutterite kindreds with ARVD11, <a href="#5" class="mim-tip-reference" title="Gerull, B., Kirchner, F., Chong, J. X., Tagoe, J., Chandrasekharan, K., Strohm, O., Waggoner, D., Ober, C., Duff, H. J. <strong>Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.</strong> Circ. Cardiovasc. Genet. 6: 327-336, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23863954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23863954</a>] [<a href="https://doi.org/10.1161/CIRCGENETICS.113.000097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23863954">Gerull et al. (2013)</a> identified homozygosity for a nonsense mutation in the DSC2 gene (Q554X; <a href="#0005">125645.0005</a>) that segregated fully with disease in both families. One patient exhibited mild palmoplantar hyperkeratosis with normal hair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23863954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>5 Selected Examples</a>):</strong>
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<a href="/allelicVariants/125645" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=125645[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11</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">rs397514041 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514041;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=rs397514041" 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=rs397514041" 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 mother and daughter with arrhythmogenic right ventricular dysplasia-11 (ARVD11; <a href="/entry/610476">610476</a>), <a href="#10" class="mim-tip-reference" title="Syrris, P., Ward, D., Evans, A., Asimaki, A., Gandjbakhch, E., Sen-Chowdhry, S., McKenna, W. J. <strong>Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.</strong> Am. J. Hum. Genet. 79: 978-984, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17033975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17033975</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17033975[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/509122" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17033975">Syrris et al. (2006)</a> identified a heterozygous 1-bp deletion (1430delC) in exon 10 of the DSC2 gene, resulting in a frameshift and premature termination of the protein at codon 480. The mutant protein is predicted to lose the transmembrane and cytoplasmic components. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17033975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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> rs200056085 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200056085;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/rs200056085?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=rs200056085" 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=rs200056085" 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=RCV000018343 OR RCV000039429 OR RCV000157178 OR RCV000181132 OR RCV000202657 OR RCV000253786 OR RCV000845558 OR RCV003993761" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018343, RCV000039429, RCV000157178, RCV000181132, RCV000202657, RCV000253786, RCV000845558, RCV003993761" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018343...</a>
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<p>This variant, formerly titled ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, has been reclassified based on the findings of <a href="#4" class="mim-tip-reference" title="De Bortoli, M., Beffagna, G., Bauce, B., Lorenzon, A., Smaniotto, G., Rigato, I., Calore, M., Li Mura, I. E. A., Basso, C., Thiene, G., Lanfranchi, G., Danieli, G. A., Nava, A., Rampazzo, A. <strong>The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.</strong> Europ. J. Hum. Genet. 18: 776-782, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20197793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20197793</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20197793[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20197793">De Bortoli et al. (2010)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20197793" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 3 unrelated families with ARVD11 (<a href="/entry/610476">610476</a>), <a href="#10" class="mim-tip-reference" title="Syrris, P., Ward, D., Evans, A., Asimaki, A., Gandjbakhch, E., Sen-Chowdhry, S., McKenna, W. J. <strong>Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.</strong> Am. J. Hum. Genet. 79: 978-984, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17033975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17033975</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17033975[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/509122" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17033975">Syrris et al. (2006)</a> identified a heterozygous 2-bp insertion (2687insGA) in exon 17 of the DSC2 gene, resulting in a frameshift and premature termination (Glu896fsTer900; E896fsX900). Haplotype analysis suggested that this was a recurrent mutation rather than a founder mutation. The mutation was not found in 200 ethnically matched controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17033975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="De Bortoli, M., Beffagna, G., Bauce, B., Lorenzon, A., Smaniotto, G., Rigato, I., Calore, M., Li Mura, I. E. A., Basso, C., Thiene, G., Lanfranchi, G., Danieli, G. A., Nava, A., Rampazzo, A. <strong>The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.</strong> Europ. J. Hum. Genet. 18: 776-782, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20197793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20197793</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20197793[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20197793">De Bortoli et al. (2010)</a> detected the Glu896fsTer900 variation, which they designated Ala897LysfsTer4 (A897KfsX4), in 5 unrelated Italian ARVD probands, 4 of whom carried mutations in other known ARVD genes as well. The A897KfsX4 variant was also found in 6 of 400 control chromosomes (allele frequency, 1.5%). The authors noted that the A897KfsX4 variation affects the last 5 amino acids of the DSC2a isoform and not those of the DSC2b, which shows higher expression in heart than does DSC2a, suggesting that relative deficiency of DSC2a might be compensated for by DSC2b. Transfection studies using the desmosome-forming atrial cardiomyocyte cell line HL-1 showed that the A897KfsX4 mutant DSC2 localized in the cytoplasm whereas wildtype localized in the plasma membrane; however, immunostaining showed the presence of well-assembled desmosomes, with no colocalization between endogenous dsg and mutant DSC2. <a href="#4" class="mim-tip-reference" title="De Bortoli, M., Beffagna, G., Bauce, B., Lorenzon, A., Smaniotto, G., Rigato, I., Calore, M., Li Mura, I. E. A., Basso, C., Thiene, G., Lanfranchi, G., Danieli, G. A., Nava, A., Rampazzo, A. <strong>The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.</strong> Europ. J. Hum. Genet. 18: 776-782, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20197793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20197793</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20197793[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20197793">De Bortoli et al. (2010)</a> suggested that A897KfsX4 should be considered a rare polymorphism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20197793" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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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DSC2, IVS5AS, A-G, -2
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397514042 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514042;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/rs397514042?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=rs397514042" 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=rs397514042" 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=RCV000018344 OR RCV000181140 OR RCV001183801 OR RCV003338383 OR RCV003996109 OR RCV004017258" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018344, RCV000181140, RCV001183801, RCV003338383, RCV003996109, RCV004017258" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018344...</a>
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<p>In a 58-year-old male patient with arrhythmogenic right ventricular cardiomyopathy (ARVD11; <a href="/entry/610476">610476</a>), <a href="#7" class="mim-tip-reference" title="Heuser, A., Plovie, E. R., Ellinor, P. T., Grossmann, K. S., Shin, J. T., Wichter, T., Basson, C. T., Lerman, B. B., Sasse-Klaassen, S., Thierfelder, L., MacRae, C. A., Gerull, B. <strong>Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.</strong> Am. J. Hum. Genet. 79: 1081-1088, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17186466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17186466</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17186466[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/509044" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17186466">Heuser et al. (2006)</a> observed a heterozygous splice acceptor site mutation in intron 5 of the DSC2 gene: 631-2A-G. The mutation led to the use of a cryptic splice acceptor site and the creation of a downstream premature termination codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17186466" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR</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">rs397514043 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514043;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=rs397514043" 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=rs397514043" 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=RCV000024331" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024331" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024331</a>
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<p>In a Pakistani brother and sister with arrhythmogenic right ventricular dysplasia-11 (ARVD11) with left ventricular involvement, associated with mild palmoplantar keratoderma and woolly hair (see <a href="/entry/610476">610476</a>), <a href="#9" class="mim-tip-reference" title="Simpson, M. A., Mansour, S., Ahnood, D., Kalidas, K., Patton, M. A., McKenna, W. J., Behr, E. R., Crosby, A. H. <strong>Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.</strong> Cardiology 113: 28-34, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18957847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18957847</a>] [<a href="https://doi.org/10.1159/000165696" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18957847">Simpson et al. (2009)</a> identified homozygosity for a 1-bp deletion (1841delG) in exon 12 of the DSC2 gene, causing a frameshift predicted to result in a premature termination codon (Ser614fsTer625). The unaffected first-cousin parents and an unaffected sister were heterozygous for the deletion, which was not found in 300 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18957847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs878853170 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs878853170;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/rs878853170?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=rs878853170" 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=rs878853170" 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=RCV000224990 OR RCV000254959 OR RCV001854779" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000224990, RCV000254959, RCV001854779" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000224990...</a>
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<p>In 6 affected individuals from 2 Canadian Hutterite kindreds with arrhythmogenic right ventricular dysplasia-11 with or without mild palmoplantar keratoderma (see <a href="/entry/610476">610476</a>), <a href="#5" class="mim-tip-reference" title="Gerull, B., Kirchner, F., Chong, J. X., Tagoe, J., Chandrasekharan, K., Strohm, O., Waggoner, D., Ober, C., Duff, H. J. <strong>Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.</strong> Circ. Cardiovasc. Genet. 6: 327-336, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23863954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23863954</a>] [<a href="https://doi.org/10.1161/CIRCGENETICS.113.000097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23863954">Gerull et al. (2013)</a> identified homozygosity for a c.1660C-T transition in the DSC2 gene, resulting in a gln554-to-ter (Q554X) substitution within the fourth extracellular cadherin domain. The mutation segregated fully with disease in the 2 families; it was also found at a carrier frequency of 9.4% in a sample of 1,535 Schmiedeleut Hutterites from South Dakota, among whom 6 homozygotes were detected. Immunohistochemistry of endomyocardial biopsy samples from homozygous individuals showed altered expression of the truncated DSC2 protein at the intercalated discs, but only minor changes in immunoreactivity of other desmosomal proteins. Recombinant-expressed mutant DSC2 in HEK293 and HeLa cells confirmed a stable, partially processed truncated protein with cytoplasmic and membrane localization. Mild palmoplantar hyperkeratosis was observed in only 1 of the Canadian Hutterite patients, who had normal hair. <a href="#5" class="mim-tip-reference" title="Gerull, B., Kirchner, F., Chong, J. X., Tagoe, J., Chandrasekharan, K., Strohm, O., Waggoner, D., Ober, C., Duff, H. J. <strong>Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.</strong> Circ. Cardiovasc. Genet. 6: 327-336, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23863954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23863954</a>] [<a href="https://doi.org/10.1161/CIRCGENETICS.113.000097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23863954">Gerull et al. (2013)</a> suggested that involvement of hair and skin, as observed in a family of Pakistani origin by <a href="#9" class="mim-tip-reference" title="Simpson, M. A., Mansour, S., Ahnood, D., Kalidas, K., Patton, M. A., McKenna, W. J., Behr, E. R., Crosby, A. H. <strong>Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.</strong> Cardiology 113: 28-34, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18957847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18957847</a>] [<a href="https://doi.org/10.1159/000165696" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18957847">Simpson et al. (2009)</a> (<a href="#0004">125645.0004</a>), might be dependent on the exact location of the mutation or a modifying genetic/ethnic background. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23863954+18957847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP).</strong>
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Genomics 10: 640-645, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1889810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1889810</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1889810" 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)90446-l" target="_blank">Full Text</a>]
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Buxton, R. S., Cowin, P., Franke, W. W., Garrod, D. R., Green, K. J., King, I. A., Koch, P. J., Magee, A. I., Rees, D. A., Stanley, J. R., Steinberg, M. S.
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<strong>Nomenclature of the desmosomal cadherins.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486729</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8486729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1083/jcb.121.3.481" target="_blank">Full Text</a>]
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Buxton, R. S., Wheeler, G. N., Pidsley, S. C., Marsden, M. D., Adams, M. J., Jenkins, N. A., Gilbert, D. J., Copeland, N. G.
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<strong>Mouse desmocollin (Dsc3) and desmoglein (Dsg1) genes are closely linked in the proximal region of chromosome 18.</strong>
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Genomics 21: 510-516, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959727</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7959727" 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/10.1006/geno.1994.1309" target="_blank">Full Text</a>]
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De Bortoli, M., Beffagna, G., Bauce, B., Lorenzon, A., Smaniotto, G., Rigato, I., Calore, M., Li Mura, I. E. A., Basso, C., Thiene, G., Lanfranchi, G., Danieli, G. A., Nava, A., Rampazzo, A.
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<strong>The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.</strong>
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Europ. J. Hum. Genet. 18: 776-782, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20197793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20197793</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20197793[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=20197793" 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/10.1038/ejhg.2010.19" target="_blank">Full Text</a>]
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<strong>Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.</strong>
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Circ. Cardiovasc. Genet. 6: 327-336, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23863954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23863954</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23863954" 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/10.1161/CIRCGENETICS.113.000097" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Greenwood1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Greenwood, M. D., Marsden, M. D., Cowley, C. M. E., Sahota, V. K., Buxton, R. S.
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|
<strong>Exon-intron organization of the human type 2 desmocollin gene (DSC2): desmocollin gene structure is closer to 'classical' cadherins than to desmogleins.</strong>
|
|
Genomics 44: 330-335, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9325054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9325054</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9325054" 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/10.1006/geno.1997.4894" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Heuser2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Heuser, A., Plovie, E. R., Ellinor, P. T., Grossmann, K. S., Shin, J. T., Wichter, T., Basson, C. T., Lerman, B. B., Sasse-Klaassen, S., Thierfelder, L., MacRae, C. A., Gerull, B.
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<strong>Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.</strong>
|
|
Am. J. Hum. Genet. 79: 1081-1088, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17186466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17186466</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17186466[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=17186466" 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/10.1086/509044" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="King1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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King, I. A., Arnemann, J., Spurr, N. K., Buxton, R. S.
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<strong>Cloning of the cDNA (DSC1) coding for human type 1 desmocollin and its assignment to chromosome 18.</strong>
|
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Genomics 18: 185-194, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8288219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8288219</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8288219" 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/10.1006/geno.1993.1453" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Simpson2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Simpson, M. A., Mansour, S., Ahnood, D., Kalidas, K., Patton, M. A., McKenna, W. J., Behr, E. R., Crosby, A. H.
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|
<strong>Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.</strong>
|
|
Cardiology 113: 28-34, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18957847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18957847</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18957847" 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/10.1159/000165696" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Syrris2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Syrris, P., Ward, D., Evans, A., Asimaki, A., Gandjbakhch, E., Sen-Chowdhry, S., McKenna, W. J.
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<strong>Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.</strong>
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Am. J. Hum. Genet. 79: 978-984, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17033975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17033975</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17033975[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=17033975" 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/10.1086/509122" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 06/08/2016
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 6/1/2012<br>Victor A. McKusick - updated : 11/27/2006<br>Victor A. McKusick - updated : 10/10/2006<br>Victor A. McKusick - updated : 11/9/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/20/1991
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/13/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 10/17/2022<br>carol : 06/08/2016<br>carol : 11/14/2014<br>carol : 9/3/2013<br>carol : 6/4/2012<br>terry : 6/1/2012<br>alopez : 12/11/2006<br>alopez : 11/29/2006<br>terry : 11/27/2006<br>wwang : 10/10/2006<br>ckniffin : 10/10/2006<br>terry : 10/10/2006<br>terry : 11/9/2000<br>terry : 11/9/2000<br>alopez : 9/4/1998<br>alopez : 8/26/1998<br>alopez : 8/25/1998<br>terry : 5/29/1998<br>jason : 7/1/1994<br>carol : 12/22/1993<br>carol : 11/29/1993<br>carol : 6/22/1993<br>supermim : 3/16/1992<br>carol : 2/26/1992
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 125645
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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DESMOCOLLIN 2; DSC2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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DESMOCOLLIN 3, FORMERLY; DSC3, FORMERLY<br />
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DESMOSOMAL GLYCOPROTEIN II/III; DG2/3; DG2
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: DSC2</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 18q12.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 18:31,058,840-31,102,421 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
|
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18q12.1
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Arrhythmogenic right ventricular dysplasia 11
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
610476
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Autosomal dominant; Autosomal recessive
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
3
|
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</span>
|
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</td>
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</tr>
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<tr>
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<td>
|
|
<span class="mim-font">
|
|
Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
|
|
</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
|
610476
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Autosomal dominant; Autosomal recessive
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
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3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>TEXT</strong>
|
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</span>
|
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>The cadherins are a superfamily of calcium-dependent glycoproteins that are cell adhesion molecules. Two families of cadherins, the desmocollins and the desmogleins, are found only in the desmosome type of cell-cell junction. Desmosomal glycoproteins II and III are splice variants of the same gene, having relative masses of 120,000 and 100,000, respectively. Also see DSG1 (125670).</p><p>De Bortoli et al. (2010) studied DSC2 expression in human tissues and found that almost all analyzed samples, including heart, pancreas, lung, placenta, brain, skeletal muscle, liver, and kidney, showed expression of both DSC2 splice forms, DSC2a and DSC2b. All of the tissues showed different expression levels of the 2 isoforms, and De Bortoli et al. (2010) noted that in the heart, in contrast to other tissues, DSC2b shows higher expression than DSC2a. </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">
|
|
<strong>Gene Structure</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Greenwood et al. (1997) found that the human DSC2 gene, which codes for the most widely distributed form of desmocollins, contains 17 exons ranging in size from 46 to 258 bp and spans more than 32 kb of DNA. Exon 16 is alternatively spliced, giving rise to the a and b forms of the protein. A remarkable degree of conservation of intron position with other cadherins was observed. </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">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Arnemann et al. (1991) assigned the single gene responsible for DG II/III to the short arm of chromosome 9 by the study of somatic cell hybrids; however, King et al. (1993) cited unpublished data indicating that DSC3 is in fact not on 9p but rather on chromosome 18 where type 1 desmocollin (DSC1; 125643) is located. Tight linkage between the mouse homologs of NCAD (114020), DSG1 (125670), TTR (176300), and DSC3, all of which are located in a region of mouse chromosome 18 with homology to human 18q, suggested that DSC3 was probably located on 18q12.1. Buxton et al. (1994) found that the human DSC3 gene maps to chromosome 18 by PCR amplification of DNA from a panel of rodent/human somatic cell hybrids. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Nomenclature</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Buxton et al. (1993) proposed that the gene encoding desmocollin DG2/3 be symbolized DSC3, since it is the human ortholog of bovine desmocollin type 3. No human equivalent of bovine type 2 desmocollin had been described. Each desmocollin gene codes for 2 products differing by approximately 6 kD, derived from alternatively spliced transcripts from single genes. This results in the inclusion of a 46-bp exon containing an in-frame stop codon in the mRNA encoding the smaller form. The larger form is designated 'a'; the smaller, 'b.' </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Familial Arrhythmogenic Right Ventricular Dysplasia 11</em></strong></p><p>
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In affected members of 4 unrelated families with arrhythmogenic right ventricular dysplasia-11 (ARVD11; 610476), Syrris et al. (2006) identified 2 different heterozygous mutations in the DSC2 gene (125645.0001 and 125645.0002). Both mutations resulted in frameshifts and premature termination of the desmocollin-2 protein. Disease penetrance was incomplete. </p><p>Heuser et al. (2006) investigated 88 unrelated patients with ARVC for mutations in DSC2. They identified a heterozygous splice acceptor site mutation in intron 5 (125645.0003) of the DSC2 gene, which led to the use of a cryptic splice acceptor site and the creation of a downstream premature termination codon. Quantitative analysis of cardiac DSC2 expression in patient specimens revealed a marked reduction in the abundance of the mutant transcript. Morpholino knockdown in zebrafish embryos revealed a requirement for dsc2 in the establishment of the normal myocardial structure and function, with reduced desmosomal plaque area, loss of the desmosome extracellular electron-dense midlines, and associated myocardial contractility defects. These data identified DSC2 mutations as a cause of ARVC in humans and demonstrated that physiologic levels of DSC2 are crucial for normal cardiac desmosome formation, early cardiac morphogenesis, and cardiac function. </p><p>De Bortoli et al. (2010) detected the 2-bp insertion (125645.0002), which they designated A897KfsX4, in 5 unrelated Italian ARVD probands, 4 of whom were known to carry mutations in other ARVD genes as well. The A897KfsX4 variant was also found in 6 of 400 control chromosomes (allele frequency, 1.5%). Noting that the A897KfsX4 variation affects only the DSC2a isoform and not DSC2b, which shows higher expression in the heart than does DSC2a, De Bortoli et al. (2010) suggested that relative deficiency of DSC2a might be compensated for by DSC2b and that A897KfsX4 should be considered a rare polymorphism. </p><p><strong><em>ARVD11 and Mild Palmoplantar Keratoderma with or without Woolly Hair</em></strong></p><p>
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In 2 Pakistani sibs with ARVD with left ventricular involvement as well as mild palmoplantar keratoderma and woolly hair, in whom homozygosity mapping excluded the involvement of the JUP (173325), DSP (125647), and PKP2 (602861) genes, Simpson et al. (2009) identified homozygosity for a 1-bp deletion in the DSC2 gene (125645.0004). The unaffected first-cousin parents and an unaffected sister were heterozygous carriers of the mutation, which was not found in 300 control chromosomes. </p><p>In 2 Canadian Hutterite kindreds with ARVD11, Gerull et al. (2013) identified homozygosity for a nonsense mutation in the DSC2 gene (Q554X; 125645.0005) that segregated fully with disease in both families. One patient exhibited mild palmoplantar hyperkeratosis with normal hair. </p>
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</span>
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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>ALLELIC VARIANTS</strong>
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</span>
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<strong>5 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 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11</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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DSC2, 1-BP DEL, 1430C
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<br />
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SNP: rs397514041,
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ClinVar: RCV000018342
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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 mother and daughter with arrhythmogenic right ventricular dysplasia-11 (ARVD11; 610476), Syrris et al. (2006) identified a heterozygous 1-bp deletion (1430delC) in exon 10 of the DSC2 gene, resulting in a frameshift and premature termination of the protein at codon 480. The mutant protein is predicted to lose the transmembrane and cytoplasmic components. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE</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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DSC2, 2-BP INS, 2687GA
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<br />
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SNP: rs200056085,
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gnomAD: rs200056085,
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ClinVar: RCV000018343, RCV000039429, RCV000157178, RCV000181132, RCV000202657, RCV000253786, RCV000845558, RCV003993761
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>This variant, formerly titled ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, has been reclassified based on the findings of De Bortoli et al. (2010). </p><p>In affected members of 3 unrelated families with ARVD11 (610476), Syrris et al. (2006) identified a heterozygous 2-bp insertion (2687insGA) in exon 17 of the DSC2 gene, resulting in a frameshift and premature termination (Glu896fsTer900; E896fsX900). Haplotype analysis suggested that this was a recurrent mutation rather than a founder mutation. The mutation was not found in 200 ethnically matched controls. </p><p>De Bortoli et al. (2010) detected the Glu896fsTer900 variation, which they designated Ala897LysfsTer4 (A897KfsX4), in 5 unrelated Italian ARVD probands, 4 of whom carried mutations in other known ARVD genes as well. The A897KfsX4 variant was also found in 6 of 400 control chromosomes (allele frequency, 1.5%). The authors noted that the A897KfsX4 variation affects the last 5 amino acids of the DSC2a isoform and not those of the DSC2b, which shows higher expression in heart than does DSC2a, suggesting that relative deficiency of DSC2a might be compensated for by DSC2b. Transfection studies using the desmosome-forming atrial cardiomyocyte cell line HL-1 showed that the A897KfsX4 mutant DSC2 localized in the cytoplasm whereas wildtype localized in the plasma membrane; however, immunostaining showed the presence of well-assembled desmosomes, with no colocalization between endogenous dsg and mutant DSC2. De Bortoli et al. (2010) suggested that A897KfsX4 should be considered a rare polymorphism. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0003 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11</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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DSC2, IVS5AS, A-G, -2
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<br />
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SNP: rs397514042,
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gnomAD: rs397514042,
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ClinVar: RCV000018344, RCV000181140, RCV001183801, RCV003338383, RCV003996109, RCV004017258
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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 58-year-old male patient with arrhythmogenic right ventricular cardiomyopathy (ARVD11; 610476), Heuser et al. (2006) observed a heterozygous splice acceptor site mutation in intron 5 of the DSC2 gene: 631-2A-G. The mutation led to the use of a cryptic splice acceptor site and the creation of a downstream premature termination codon. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0004 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR</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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DSC2, 1-BP DEL, 1841G
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<br />
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SNP: rs397514043,
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|
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ClinVar: RCV000024331
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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 Pakistani brother and sister with arrhythmogenic right ventricular dysplasia-11 (ARVD11) with left ventricular involvement, associated with mild palmoplantar keratoderma and woolly hair (see 610476), Simpson et al. (2009) identified homozygosity for a 1-bp deletion (1841delG) in exon 12 of the DSC2 gene, causing a frameshift predicted to result in a premature termination codon (Ser614fsTer625). The unaffected first-cousin parents and an unaffected sister were heterozygous for the deletion, which was not found in 300 control chromosomes. </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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|
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</div>
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<div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
DSC2, GLN554TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs878853170,
|
|
|
|
|
|
gnomAD: rs878853170,
|
|
|
|
|
|
ClinVar: RCV000224990, RCV000254959, RCV001854779
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 6 affected individuals from 2 Canadian Hutterite kindreds with arrhythmogenic right ventricular dysplasia-11 with or without mild palmoplantar keratoderma (see 610476), Gerull et al. (2013) identified homozygosity for a c.1660C-T transition in the DSC2 gene, resulting in a gln554-to-ter (Q554X) substitution within the fourth extracellular cadherin domain. The mutation segregated fully with disease in the 2 families; it was also found at a carrier frequency of 9.4% in a sample of 1,535 Schmiedeleut Hutterites from South Dakota, among whom 6 homozygotes were detected. Immunohistochemistry of endomyocardial biopsy samples from homozygous individuals showed altered expression of the truncated DSC2 protein at the intercalated discs, but only minor changes in immunoreactivity of other desmosomal proteins. Recombinant-expressed mutant DSC2 in HEK293 and HeLa cells confirmed a stable, partially processed truncated protein with cytoplasmic and membrane localization. Mild palmoplantar hyperkeratosis was observed in only 1 of the Canadian Hutterite patients, who had normal hair. Gerull et al. (2013) suggested that involvement of hair and skin, as observed in a family of Pakistani origin by Simpson et al. (2009) (125645.0004), might be dependent on the exact location of the mutation or a modifying genetic/ethnic background. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>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">
|
|
Arnemann, J., Spurr, N. K., Wheeler, G. N., Parker, A. E., Buxton, R. S.
|
|
<strong>Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP).</strong>
|
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Genomics 10: 640-645, 1991.
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[PubMed: 1889810]
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[Full Text: https://doi.org/10.1016/0888-7543(91)90446-l]
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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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Buxton, R. S., Cowin, P., Franke, W. W., Garrod, D. R., Green, K. J., King, I. A., Koch, P. J., Magee, A. I., Rees, D. A., Stanley, J. R., Steinberg, M. S.
|
|
<strong>Nomenclature of the desmosomal cadherins.</strong>
|
|
J. Cell Biol. 121: 481-483, 1993.
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[PubMed: 8486729]
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[Full Text: https://doi.org/10.1083/jcb.121.3.481]
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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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Buxton, R. S., Wheeler, G. N., Pidsley, S. C., Marsden, M. D., Adams, M. J., Jenkins, N. A., Gilbert, D. J., Copeland, N. G.
|
|
<strong>Mouse desmocollin (Dsc3) and desmoglein (Dsg1) genes are closely linked in the proximal region of chromosome 18.</strong>
|
|
Genomics 21: 510-516, 1994.
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[PubMed: 7959727]
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[Full Text: https://doi.org/10.1006/geno.1994.1309]
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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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De Bortoli, M., Beffagna, G., Bauce, B., Lorenzon, A., Smaniotto, G., Rigato, I., Calore, M., Li Mura, I. E. A., Basso, C., Thiene, G., Lanfranchi, G., Danieli, G. A., Nava, A., Rampazzo, A.
|
|
<strong>The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.</strong>
|
|
Europ. J. Hum. Genet. 18: 776-782, 2010.
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[PubMed: 20197793]
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[Full Text: https://doi.org/10.1038/ejhg.2010.19]
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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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Gerull, B., Kirchner, F., Chong, J. X., Tagoe, J., Chandrasekharan, K., Strohm, O., Waggoner, D., Ober, C., Duff, H. J.
|
|
<strong>Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.</strong>
|
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Circ. Cardiovasc. Genet. 6: 327-336, 2013.
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[PubMed: 23863954]
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[Full Text: https://doi.org/10.1161/CIRCGENETICS.113.000097]
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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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Greenwood, M. D., Marsden, M. D., Cowley, C. M. E., Sahota, V. K., Buxton, R. S.
|
|
<strong>Exon-intron organization of the human type 2 desmocollin gene (DSC2): desmocollin gene structure is closer to 'classical' cadherins than to desmogleins.</strong>
|
|
Genomics 44: 330-335, 1997.
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|
[PubMed: 9325054]
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[Full Text: https://doi.org/10.1006/geno.1997.4894]
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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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Heuser, A., Plovie, E. R., Ellinor, P. T., Grossmann, K. S., Shin, J. T., Wichter, T., Basson, C. T., Lerman, B. B., Sasse-Klaassen, S., Thierfelder, L., MacRae, C. A., Gerull, B.
|
|
<strong>Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.</strong>
|
|
Am. J. Hum. Genet. 79: 1081-1088, 2006.
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[PubMed: 17186466]
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[Full Text: https://doi.org/10.1086/509044]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
King, I. A., Arnemann, J., Spurr, N. K., Buxton, R. S.
|
|
<strong>Cloning of the cDNA (DSC1) coding for human type 1 desmocollin and its assignment to chromosome 18.</strong>
|
|
Genomics 18: 185-194, 1993.
|
|
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|
|
[PubMed: 8288219]
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[Full Text: https://doi.org/10.1006/geno.1993.1453]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Simpson, M. A., Mansour, S., Ahnood, D., Kalidas, K., Patton, M. A., McKenna, W. J., Behr, E. R., Crosby, A. H.
|
|
<strong>Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.</strong>
|
|
Cardiology 113: 28-34, 2009.
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|
[PubMed: 18957847]
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[Full Text: https://doi.org/10.1159/000165696]
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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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Syrris, P., Ward, D., Evans, A., Asimaki, A., Gandjbakhch, E., Sen-Chowdhry, S., McKenna, W. J.
|
|
<strong>Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.</strong>
|
|
Am. J. Hum. Genet. 79: 978-984, 2006.
|
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|
|
[PubMed: 17033975]
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[Full Text: https://doi.org/10.1086/509122]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
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<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 06/08/2016<br>Marla J. F. O'Neill - updated : 6/1/2012<br>Victor A. McKusick - updated : 11/27/2006<br>Victor A. McKusick - updated : 10/10/2006<br>Victor A. McKusick - updated : 11/9/2000
|
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Victor A. McKusick : 6/20/1991
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carol : 07/13/2023<br>alopez : 10/17/2022<br>carol : 06/08/2016<br>carol : 11/14/2014<br>carol : 9/3/2013<br>carol : 6/4/2012<br>terry : 6/1/2012<br>alopez : 12/11/2006<br>alopez : 11/29/2006<br>terry : 11/27/2006<br>wwang : 10/10/2006<br>ckniffin : 10/10/2006<br>terry : 10/10/2006<br>terry : 11/9/2000<br>terry : 11/9/2000<br>alopez : 9/4/1998<br>alopez : 8/26/1998<br>alopez : 8/25/1998<br>terry : 5/29/1998<br>jason : 7/1/1994<br>carol : 12/22/1993<br>carol : 11/29/1993<br>carol : 6/22/1993<br>supermim : 3/16/1992<br>carol : 2/26/1992
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