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<title>
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Entry
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- *125671 - DESMOGLEIN 2; DSG2
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- OMIM
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<div id="mimSearch" class="hidden-print">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
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<div class="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</li>
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<li role="separator" class="divider"></li>
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<li>
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<a href="/history"> Search History </a>
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</ul>
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</form>
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<p />
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<div id="mimAlertBanner">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*125671</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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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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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/125671">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>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
|
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000046604;t=ENST00000261590" 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=1829" 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=125671" 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=ENSG00000046604;t=ENST00000261590" 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_001943,XM_047437315" 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_001943" 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=125671" 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=00516&isoform_id=00516_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/DSG2" 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/416178,18073368,68563344,68563346,68563384,116534898,119621666,119621667,148876773,2217316208,2462559675" 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/Q14126" 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=1829" 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=ENSG00000046604;t=ENST00000261590" 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=DSG2" 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=DSG2" 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+1829" 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/DSG2" 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:1829" 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/1829" 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=ENST00000261590.13&hgg_start=31498177&hgg_end=31549008&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
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<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:3049" 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:3049" 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=125671[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=125671[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/DSG2/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/ENSG00000046604" 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=DSG2" 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=DSG2" 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=DSG2" 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=DSG2&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/PA27502" 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:3049" 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:1196466" 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/DSG2#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:1196466" 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/1829/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=1829" 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-030131-7531" 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">
|
|
<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:1829" 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=DSG2&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>
|
|
125671
|
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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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|
|
DESMOGLEIN 2; DSG2
|
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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>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
HUMAN DESMOGLEIN COLON; HDGC
|
|
</span>
|
|
</h4>
|
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</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=DSG2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DSG2</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/18/118?start=-3&limit=10&highlight=118">18q12.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr18:31498177-31549008&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'})">18:31,498,177-31,549,008</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">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=610193,612877" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/18/118?start=-3&limit=10&highlight=118">
|
|
18q12.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
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<p>The desmosomal cadherins are potential cell adhesion molecules of the desmosome type of cell junction by virtue of their homology to the cadherin class of cell adhesion molecules. Two classes of desmosomal cadherins are known, namely, the desmogleins and the desmocollins (see <a href="/entry/125645">125645</a>). <a href="#3" class="mim-tip-reference" title="Koch, P. J., Goldschmidt, M. D., Walsh, M. J., Zimbelmann, R., Franke, W. W. <strong>Complete amino acid sequence of the epidermal desmoglein precursor polypeptide and identification of a second type of desmoglein gene.</strong> Europ. J. Cell Biol. 55: 200-208, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1935985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1935985</a>]" pmid="1935985">Koch et al. (1991)</a> described a second type of desmoglein gene (DSG2), expressed in colon, colon carcinoma, and other simple and stratified epithelial-derived cell lines, which they called HDGC for 'human-desmoglein-colon.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1935985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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., Magee, A. I., Buxton, R. S. <strong>The human gene (DSG2) coding for HDGC, a second member of the desmoglein subfamily of the desmosomal cadherins, is, like DSG1 coding for desmoglein DGI, assigned to chromosome 18.</strong> Genomics 13: 484-486, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1612610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1612610</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90280-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1612610">Arnemann et al. (1992)</a> used PCR on somatic cell hybrids to map the DSG2 gene to chromosome 18, the same chromosome that carries the DSG1 gene (<a href="/entry/125670">125670</a>). They noted that the DCC gene (<a href="/entry/120470">120470</a>), which is involved in colon cancer, is located on 18q. The DSG2 gene may lie in a cluster of DSG genes in band 18q12. <a href="#9" class="mim-tip-reference" title="Wang, Y., Amagai, M., Minoshima, S., Sakai, K., Green, K. J., Nishikawa, T., Shimizu, N. <strong>The human genes for desmogleins (DSG1 and DSG3) are located in a small region on chromosome 18q12.</strong> Genomics 20: 492-495, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8034325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8034325</a>] [<a href="https://doi.org/10.1006/geno.1994.1207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8034325">Wang et al. (1994)</a> found by fluorescence in situ hybridization that DSG1 and DSG3 are located in that band; furthermore, both genes were localized on a 320-kb genomic fragment separated by pulsed field gel electrophoresis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1612610+8034325" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>Most human adenovirus serotypes use CAR (CXADR; <a href="/entry/602621">602621</a>) as a primary attachment receptor. However, this is not the case for species B adenoviruses, which can be grouped based on receptor usage. Group-1 viruses (Ad16, Ad21, Ad35, and Ad50) use CD46 (MCP; <a href="/entry/120920">120920</a>) almost exclusively, whereas group-2 viruses (Ad3, Ad7, and Ad14) share an unidentified receptor distinct from CD46. The group-3 virus (Ad11) preferentially uses CD46, but it can also use the group-2 receptor if CD46 is blocked. Using Ad3 virions and recombinant Ad3 dodecahedral particles, <a href="#8" class="mim-tip-reference" title="Wang, H., Li, Z.-Y., Liu, Y., Persson, J., Beyer, I., Moller, T., Koyuncu, D., Drescher, M. R., Strauss, R., Zhang, X.-B., Wahl, J. K., III, Urban, N., Drescher, C., Hemminki, A., Fender, P., Lieber, A. <strong>Desmoglein 2 is a receptor for adenovirus serotypes 3, 7, 11 and 14.</strong> Nature Med. 17: 96-104, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21151137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21151137</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21151137[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/nm.2270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21151137">Wang et al. (2011)</a> identified DSG2 as a high-affinity cellular receptor for the group-2/3 species B adenoviruses (AdB-2/3). AdB-2/3 binding to DSG2 triggered epithelial-to-mesenchymal transition, leading to transient opening of intercellular junctions and access to receptors trapped in intercellular junctions, such as CD46 and HER2 (ERBB2; <a href="/entry/164870">164870</a>). <a href="#8" class="mim-tip-reference" title="Wang, H., Li, Z.-Y., Liu, Y., Persson, J., Beyer, I., Moller, T., Koyuncu, D., Drescher, M. R., Strauss, R., Zhang, X.-B., Wahl, J. K., III, Urban, N., Drescher, C., Hemminki, A., Fender, P., Lieber, A. <strong>Desmoglein 2 is a receptor for adenovirus serotypes 3, 7, 11 and 14.</strong> Nature Med. 17: 96-104, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21151137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21151137</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21151137[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/nm.2270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21151137">Wang et al. (2011)</a> concluded that the identification of the AdB-2/3 receptor sheds light on adenovirus biology and pathogenesis and possibly on the role of DSG2, which is overexpressed in epithelial malignancies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21151137" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>Arrhythmogenic Right Ventricular Dysplasia 10</em></strong></p><p>
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Arrhythmogenic right ventricular dysplasia (ARVD; see <a href="/entry/107970">107970</a>) is a myocardial disease characterized by progressive fibrofatty replacement of the cardiac myocytes of the right ventricular wall, resulting in reentrant arrhythmias and sudden death. <a href="#4" class="mim-tip-reference" title="Pilichou, K., Nava, A., Basso, C., Beffagna, G., Bauce, B., Lorenzon, A., Frigo, G., Vettori, A., Valente, M., Towbin, J., Thiene, G., Danieli, G. A., Rampazzo, A. <strong>Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.</strong> Circulation 113: 1171-1179, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16505173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16505173</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.105.583674" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16505173">Pilichou et al. (2006)</a> analyzed the DSG2 gene in 54 probands of Italian descent with ARVD who were negative for mutations in the TGFB3 (<a href="/entry/190230">190230</a>), DSP (<a href="/entry/125647">125647</a>), and PKP2 (<a href="/entry/602861">602861</a>) genes. They identified 8 probands with ARVD10 (<a href="/entry/610193">610193</a>) caused by mutations in the DSG2 gene, including 5 missense mutations, 2 insertion-deletions, 1 nonsense mutation, and 1 splice site mutation. Seven probands were heterozygous (see, e.g., <a href="#0006">125671.0006</a>), and 1 proband was compound heterozygous (<a href="#0007">125671.0007</a> and <a href="#0008">125671.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16505173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is inherited as an autosomal dominant with reduced penetrance, although autosomal recessive forms of the disease also occur, as in Naxos syndrome (<a href="/entry/601214">601214</a>) and Carvajal syndrome (<a href="/entry/605676">605676</a>). <a href="#2" class="mim-tip-reference" title="Awad, M. M., Dalal, D., Cho, E., Amat-Alarcon, N., James, C., Tichnell, C., Tucker, A., Russell, S. D., Bluemke, D. A., Dietz, H. C., Calkins, H., Judge, D. P. <strong>DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.</strong> Am. J. Hum. Genet. 79: 136-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16773573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16773573</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16773573[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/10.1086/504393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16773573">Awad et al. (2006)</a> identified 4 probands with ARVD10 caused by mutations in the DSG2 gene. One proband had compound heterozygous mutations in DSG2 (see <a href="#0001">125671.0001</a>), and the remaining 3 had isolated heterozygous missense mutations (<a href="#0003">125671.0003</a>-<a href="#0005">125671.0005</a>, respectively), each disrupting known functional components of desmoglein-2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16773573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="Syrris, P., Ward, D., Asimaki, A., Evans, A., Sen-Chowdhry, S., Hughes, S. E., McKenna, W. J. <strong>Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.</strong> Europ. Heart J. 28: 581-588, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17105751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17105751</a>] [<a href="https://doi.org/10.1093/eurheartj/ehl380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17105751">Syrris et al. (2007)</a> sequenced the DSG2 gene in 86 Caucasian ARVC patients known to be negative for mutations in the DSP, PKP2, and JUP (<a href="/entry/173325">173325</a>) genes and detected 8 mutations in 9 probands (see, e.g., V55M, <a href="#0009">125671.0009</a>); all of the mutations were predicted to disrupt functionally important parts of DSG2, and none were found in 400 control chromosomes. Clinical evaluation of mutation-positive family members demonstrated penetrance of 58 to 75%, depending on the criteria used; disease expression was of variable severity with left ventricular involvement a prominent feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17105751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>Dilated Cardiomyopathy 1BB</em></strong></p><p>
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<a href="#5" class="mim-tip-reference" title="Posch, M.G., Posch, M. J., Geier, C., Erdmann, B., Mueller, W., Richter, A., Ruppert, V., Pankuweit, S., Maisch, B., Perrot, A., Buttgereit, J., Dietz, R., Haverkamp, W., Ozcelik, C. <strong>A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.</strong> Molec. Genet. Metab. 95: 74-80, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18678517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18678517</a>] [<a href="https://doi.org/10.1016/j.ymgme.2008.06.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18678517">Posch et al. (2008)</a> analyzed the DSG2 gene in 73 patients with familial dilated cardiomyopathy (see <a href="/entry/612877">612877</a>) and identified homozygosity for the V55M variant (<a href="#0009">125671.0009</a>) in a severely affected proband; his affected father and asymptomatic mother were both heterozygous for V55M, which was not found in 360 control alleles. Immunostaining and electron microscopy of explanted left ventricular wall myocardium from the homozygous proband revealed pale intercalated discs and significantly shorter desmosomes compared to wildtype myocardium. The authors screened an additional 538 sporadic CMD patients for the DSG2 V55M variant and identified 13 unrelated carriers (2.4%); the variant was also found in 1 (0.23%) of 432 individuals without CMD (p less than 0.006). <a href="#5" class="mim-tip-reference" title="Posch, M.G., Posch, M. J., Geier, C., Erdmann, B., Mueller, W., Richter, A., Ruppert, V., Pankuweit, S., Maisch, B., Perrot, A., Buttgereit, J., Dietz, R., Haverkamp, W., Ozcelik, C. <strong>A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.</strong> Molec. Genet. Metab. 95: 74-80, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18678517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18678517</a>] [<a href="https://doi.org/10.1016/j.ymgme.2008.06.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18678517">Posch et al. (2008)</a> concluded that V55M is a polymorphic risk variant for dilated cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18678517" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Shiba, M., Higo, S., Kondo, T., Li, J., Liu, L., Ikeda, Y., Kohama, Y., Kameda, S., Tabata, T., Inoue, H., Nakamura, S., Takeda, M., Ito, E., Takashima, S., Miyagawa, S., Sawa, Y., Hikoso, S., Sakata, Y. <strong>Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes.</strong> Hum. Molec. Genet. 30: 1384-1397, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33949662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33949662</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33949662[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddab127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33949662">Shiba et al. (2021)</a> identified a homozygous nonsense mutation in the DSG2 gene (R119X; <a href="#0010">125671.0010</a>) in a patient with CMD1BB. Both parents were heterozygous for the mutation and asymptomatic. Cardiac tissue from the patient demonstrated diffuse fibrosis and cardiomyocyte size variation, and immunohistochemical analysis revealed absence of desmoglein-2 in intercalated discs. Immunostaining in induced pluripotent stem cells (iPSCs) derived from the patient demonstrated absence of desmoglein-2 protein. The iPSCs were differentiated into cardiomyocytes, which displayed abnormal ectopic electrical activity, abnormal structural formation, and abnormal contractile force compared to control cells. AAV-mediated DSG2 gene replacement in the patient-derived cardiomyocytes remediated the abnormal contractile force. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33949662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=125671[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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<p>In a patient with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD10; <a href="/entry/610193">610193</a>), <a href="#2" class="mim-tip-reference" title="Awad, M. M., Dalal, D., Cho, E., Amat-Alarcon, N., James, C., Tichnell, C., Tucker, A., Russell, S. D., Bluemke, D. A., Dietz, H. C., Calkins, H., Judge, D. P. <strong>DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.</strong> Am. J. Hum. Genet. 79: 136-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16773573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16773573</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16773573[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/10.1086/504393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16773573">Awad et al. (2006)</a> found compound heterozygosity for mutations in the DSG2 gene. One was a G-to-A transition at nucleotide 134 in exon 3, which results in the substitution of a conserved arginine with histidine (R48H). These arginines occur as the first and fourth amino acids within the RXKR furin-cleavage motif. The second mutation present in the patient of <a href="#2" class="mim-tip-reference" title="Awad, M. M., Dalal, D., Cho, E., Amat-Alarcon, N., James, C., Tichnell, C., Tucker, A., Russell, S. D., Bluemke, D. A., Dietz, H. C., Calkins, H., Judge, D. P. <strong>DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.</strong> Am. J. Hum. Genet. 79: 136-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16773573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16773573</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16773573[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/10.1086/504393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16773573">Awad et al. (2006)</a> was a 915G-A transition in exon 8 resulting in premature termination at codon trp305 (W305X; <a href="#0002">125671.0002</a>). The W305X mutation was present in heterozygous state in the unaffected sister and mother of the proband with compound heterozygosity. <a href="#2" class="mim-tip-reference" title="Awad, M. M., Dalal, D., Cho, E., Amat-Alarcon, N., James, C., Tichnell, C., Tucker, A., Russell, S. D., Bluemke, D. A., Dietz, H. C., Calkins, H., Judge, D. P. <strong>DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.</strong> Am. J. Hum. Genet. 79: 136-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16773573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16773573</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16773573[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/10.1086/504393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16773573">Awad et al. (2006)</a> suggested that this may indicate incomplete penetrance or that the W305X mutation is insufficient to result in ARVD/C in isolation. Because the mutation creates a premature termination codon, mutant transcripts were predicted to be rapidly degraded by the nonsense-mediated mRNA decay (NMD) pathway. This would then suggest that haploinsufficiency for desmoglein-2 is not the mechanism for disease. The patient had structural and functional right ventricular abnormality, ECG depolarization abnormality, ECG repolarization abnormality, and diagnostic arrhythmias. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16773573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10</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">rs121913007 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913007;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=rs121913007" 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=rs121913007" 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=RCV000018304 OR RCV000181248 OR RCV002496397 OR RCV003996106" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018304, RCV000181248, RCV002496397, RCV003996106" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018304...</a>
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<p>For discussion of the trp305-to-ter (W305X) mutation in the DSG2 gene that was found in compound heterozygous state in a patient with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD10; <a href="/entry/610193">610193</a>) by <a href="#2" class="mim-tip-reference" title="Awad, M. M., Dalal, D., Cho, E., Amat-Alarcon, N., James, C., Tichnell, C., Tucker, A., Russell, S. D., Bluemke, D. A., Dietz, H. C., Calkins, H., Judge, D. P. <strong>DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.</strong> Am. J. Hum. Genet. 79: 136-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16773573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16773573</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16773573[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/10.1086/504393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16773573">Awad et al. (2006)</a>, see <a href="#0001">125671.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16773573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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> rs121913008 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913008;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/rs121913008?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=rs121913008" 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=rs121913008" 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=RCV000018305 OR RCV000181197 OR RCV000211714 OR RCV001798008 OR RCV002381255 OR RCV002482885" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018305, RCV000181197, RCV000211714, RCV001798008, RCV002381255, RCV002482885" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018305...</a>
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<p>In an individual with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD10; <a href="/entry/610193">610193</a>), <a href="#2" class="mim-tip-reference" title="Awad, M. M., Dalal, D., Cho, E., Amat-Alarcon, N., James, C., Tichnell, C., Tucker, A., Russell, S. D., Bluemke, D. A., Dietz, H. C., Calkins, H., Judge, D. P. <strong>DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.</strong> Am. J. Hum. Genet. 79: 136-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16773573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16773573</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16773573[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/10.1086/504393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16773573">Awad et al. (2006)</a> found a heterozygous arg45-to-gln (R45Q) mutation in the DSG2 gene. The amino acid substitution arose from a 134G-A transition in exon 3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16773573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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, 10</strong>
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DSG2, CYS506TYR
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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> rs121913009 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913009;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/rs121913009?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=rs121913009" 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=rs121913009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000018306 OR RCV001178344 OR RCV001588816 OR RCV002390115 OR RCV002476988 OR RCV003996107" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018306, RCV001178344, RCV001588816, RCV002390115, RCV002476988, RCV003996107" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018306...</a>
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<p>In a patient with arrhythmogenic right ventricular dysplasia (ARVD10; <a href="/entry/610193">610193</a>), <a href="#2" class="mim-tip-reference" title="Awad, M. M., Dalal, D., Cho, E., Amat-Alarcon, N., James, C., Tichnell, C., Tucker, A., Russell, S. D., Bluemke, D. A., Dietz, H. C., Calkins, H., Judge, D. P. <strong>DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.</strong> Am. J. Hum. Genet. 79: 136-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16773573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16773573</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16773573[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/10.1086/504393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16773573">Awad et al. (2006)</a> identified a heterozygous G-to-A transition at nucleotide 1517 in exon 11 of the DSG2 gene that caused a cys506-to-tyr (C506Y) substitution in desmoglein-2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16773573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10</strong>
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DSG2, GLY811CYS
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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> rs121913010 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913010;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/rs121913010?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=rs121913010" 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=rs121913010" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000018307 OR RCV000037286 OR RCV000618751 OR RCV001183802 OR RCV002223761 OR RCV003914852" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018307, RCV000037286, RCV000618751, RCV001183802, RCV002223761, RCV003914852" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018307...</a>
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<span class="mim-text-font">
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<p>In a patient with arrhythmogenic right ventricular dysplasia (ARVD10; <a href="/entry/610193">610193</a>), <a href="#2" class="mim-tip-reference" title="Awad, M. M., Dalal, D., Cho, E., Amat-Alarcon, N., James, C., Tichnell, C., Tucker, A., Russell, S. D., Bluemke, D. A., Dietz, H. C., Calkins, H., Judge, D. P. <strong>DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.</strong> Am. J. Hum. Genet. 79: 136-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16773573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16773573</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16773573[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/10.1086/504393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16773573">Awad et al. (2006)</a> identified a gly811-to-cys (G811C) mutation in desmoglein-2 that arose from a 2431G-T transversion in the DSG2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16773573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<div style="float: left;">
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DSG2, ASN266SER
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</div>
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</span>
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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> rs121913011 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913011;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/rs121913011?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=rs121913011" 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=rs121913011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000018308" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018308" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018308</a>
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</span>
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<span class="mim-text-font">
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<p>In a 55-year-old woman with arrhythmogenic right ventricular dysplasia (ARVD10; <a href="/entry/610193">610193</a>), <a href="#4" class="mim-tip-reference" title="Pilichou, K., Nava, A., Basso, C., Beffagna, G., Bauce, B., Lorenzon, A., Frigo, G., Vettori, A., Valente, M., Towbin, J., Thiene, G., Danieli, G. A., Rampazzo, A. <strong>Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.</strong> Circulation 113: 1171-1179, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16505173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16505173</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.105.583674" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16505173">Pilichou et al. (2006)</a> identified heterozygosity for a 797A-G transition in exon 7 of the DSG2 gene, resulting in an asn266-to-ser (N266S) substitution at a highly conserved residue located in a putative calcium-binding site. An unaffected 32-year-old daughter also carried the mutation, as did a 24-year-old son, who was found to have negative T waves in V1 and V2 on ECG, right ventricular dilation and kinetic abnormalities on 2-D echocardiogram, and nonsustained ventricular arrhythmias. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16505173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<a id="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10</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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DSG2, GLU331LYS
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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> rs121913012 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913012;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/rs121913012?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=rs121913012" 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=rs121913012" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000018309 OR RCV000029673 OR RCV000852473 OR RCV001778657" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018309, RCV000029673, RCV000852473, RCV001778657" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018309...</a>
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<span class="mim-text-font">
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<p>In 2 sisters with arrhythmogenic right ventricular dysplasia (ARVD10; <a href="/entry/610193">610193</a>), <a href="#4" class="mim-tip-reference" title="Pilichou, K., Nava, A., Basso, C., Beffagna, G., Bauce, B., Lorenzon, A., Frigo, G., Vettori, A., Valente, M., Towbin, J., Thiene, G., Danieli, G. A., Rampazzo, A. <strong>Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.</strong> Circulation 113: 1171-1179, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16505173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16505173</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.105.583674" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16505173">Pilichou et al. (2006)</a> identified compound heterozygosity for a 991G-A transition in exon 8 of the DSG2 gene, resulting in a glu331-to-lys (E331K) substitution, and an A-to-G transition in the acceptor splice site of intron 12 of the DSG2 gene (1881-2A-G; <a href="#0008">125671.0008</a>). Sequence analysis of the aberrant DSG2 transcript from lymphocyte RNA of the 63-year-old proband showed that the latter mutation activates an alternative cryptic splice site in exon 13, predicted to result in a truncated 646-amino acid protein lacking the cytoplasmic domain. Their unaffected mother and an unaffected daughter of the proband were heterozygous for the E331K mutation, and a daughter with unknown disease status was heterozygous for the splice site mutation. The authors noted that although both mutations were potentially pathogenic, the possibility that the E331K mutation was a rare polymorphism could not be ruled out. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16505173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0008" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0008 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10</strong>
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</span>
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</h4>
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DSG2, IVS12AS, 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">rs397514038 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514038;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=rs397514038" 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=rs397514038" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000018310 OR RCV000181225 OR RCV000211716" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018310, RCV000181225, RCV000211716" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018310...</a>
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<span class="mim-text-font">
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<p>For discussion of the splice site mutation in the DSG2 gene (1881-2A-G) that was found in compound heterozygous state in 2 sisters with arrhythmogenic right ventricular dysplasia (ARVD10; <a href="/entry/610193">610193</a>) by <a href="#4" class="mim-tip-reference" title="Pilichou, K., Nava, A., Basso, C., Beffagna, G., Bauce, B., Lorenzon, A., Frigo, G., Vettori, A., Valente, M., Towbin, J., Thiene, G., Danieli, G. A., Rampazzo, A. <strong>Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.</strong> Circulation 113: 1171-1179, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16505173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16505173</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.105.583674" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16505173">Pilichou et al. (2006)</a>, see <a href="#0007">125671.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16505173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>.0009 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10</strong>
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CARDIOMYOPATHY, DILATED, 1BB, SUSCEPTIBILITY TO, INCLUDED
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913013 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913013;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/rs121913013?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=rs121913013" 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=rs121913013" 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=RCV000018311 OR RCV000018312 OR RCV000037270 OR RCV000148471 OR RCV000157179 OR RCV000157180 OR RCV000243248 OR RCV000757183 OR RCV000769508 OR RCV000852739 OR RCV003944829" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018311, RCV000018312, RCV000037270, RCV000148471, RCV000157179, RCV000157180, RCV000243248, RCV000757183, RCV000769508, RCV000852739, RCV003944829" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018311...</a>
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<p>In a 45-year-old woman who presented with syncope and was found to have QRS prolongation and a mildly enlarged right ventricle with hypokinesia of the RV outflow tract and apicolateral wall (ARVD10; <a href="/entry/610193">610193</a>), <a href="#7" class="mim-tip-reference" title="Syrris, P., Ward, D., Asimaki, A., Evans, A., Sen-Chowdhry, S., Hughes, S. E., McKenna, W. J. <strong>Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.</strong> Europ. Heart J. 28: 581-588, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17105751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17105751</a>] [<a href="https://doi.org/10.1093/eurheartj/ehl380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17105751">Syrris et al. (2007)</a> identified a 165G-A transition in exon 3 of the DSG2 gene, resulting in a val56-to-met (V56M) substitution at a highly conserved residue in the EC1 extracellular domain. Family members were unavailable for study; the mutation was not found in 400 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17105751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a man with dilated cardiomyopathy (CMD1BB; <a href="/entry/612877">612877</a>) who had severely decreased cardiac function and underwent cardiac transplantation at 44 years of age, <a href="#5" class="mim-tip-reference" title="Posch, M.G., Posch, M. J., Geier, C., Erdmann, B., Mueller, W., Richter, A., Ruppert, V., Pankuweit, S., Maisch, B., Perrot, A., Buttgereit, J., Dietz, R., Haverkamp, W., Ozcelik, C. <strong>A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.</strong> Molec. Genet. Metab. 95: 74-80, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18678517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18678517</a>] [<a href="https://doi.org/10.1016/j.ymgme.2008.06.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18678517">Posch et al. (2008)</a> identified homozygosity for the V55M mutation in the DSG2 gene. The proband's father, who had less severe disease with a later onset, was heterozygous for the mutation, as was his asymptomatic mother; his paternal grandfather had died of heart failure at 57 years of age. <a href="#5" class="mim-tip-reference" title="Posch, M.G., Posch, M. J., Geier, C., Erdmann, B., Mueller, W., Richter, A., Ruppert, V., Pankuweit, S., Maisch, B., Perrot, A., Buttgereit, J., Dietz, R., Haverkamp, W., Ozcelik, C. <strong>A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.</strong> Molec. Genet. Metab. 95: 74-80, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18678517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18678517</a>] [<a href="https://doi.org/10.1016/j.ymgme.2008.06.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18678517">Posch et al. (2008)</a> screened an additional 538 sporadic CMD patients for the DSG2 V55M variant and identified 13 unrelated carriers (2.4%), none of whom had clinical evidence of ARVD; the variant was also found in 1 (0.23%) of 432 individuals without CMD (p less than 0.006). Immunostaining and electron microscopy of explanted left ventricular wall myocardium from the homozygous proband revealed pale, irregularly shaped intercalated discs with an indistinct inner structure and significantly shorter desmosomes compared to wildtype myocardium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18678517" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0010" class="mim-anchor"></a>
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<strong>.0010 CARDIOMYOPATHY, DILATED, 1BB</strong>
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DSG2, ARG119TER
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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> rs753052874 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs753052874;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/rs753052874?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=rs753052874" 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=rs753052874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001524075 OR RCV002251768 OR RCV002334573 OR RCV002466679 OR RCV003771576 OR RCV004007253 OR RCV005014578" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001524075, RCV002251768, RCV002334573, RCV002466679, RCV003771576, RCV004007253, RCV005014578" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001524075...</a>
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<span class="mim-text-font">
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<p>In a patient with dilated cardiomyopathy-1BB (CMD1BB; <a href="/entry/612877">612877</a>), <a href="#6" class="mim-tip-reference" title="Shiba, M., Higo, S., Kondo, T., Li, J., Liu, L., Ikeda, Y., Kohama, Y., Kameda, S., Tabata, T., Inoue, H., Nakamura, S., Takeda, M., Ito, E., Takashima, S., Miyagawa, S., Sawa, Y., Hikoso, S., Sakata, Y. <strong>Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes.</strong> Hum. Molec. Genet. 30: 1384-1397, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33949662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33949662</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33949662[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddab127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33949662">Shiba et al. (2021)</a> identified a homozygous c.355C-T transition in the DSG2 gene, resulting in an arg119-to-ter (R119X) substitution. The mutation, which was found by sequencing a panel of 404 cardiovascular genes, was present in heterozygous state in the asymptomatic parents. The mutation was not present in the 1000 Genomes Project database and was present in the ExAC database at an allele frequency of 1/65454 in the European population and 2/8512 in the East Asian population. Immunohistochemical analysis of heart tissue from the patient revealed absence of desmoglien-2 in intercalated discs. Immunostaining in induced pluripotent stem cells (iPSCs) derived from the patient demonstrated absence of desmoglein-2 protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33949662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Arnemann1992" class="mim-anchor"></a>
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Arnemann, J., Spurr, N. K., Magee, A. I., Buxton, R. S.
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<strong>The human gene (DSG2) coding for HDGC, a second member of the desmoglein subfamily of the desmosomal cadherins, is, like DSG1 coding for desmoglein DGI, assigned to chromosome 18.</strong>
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Genomics 13: 484-486, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1612610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1612610</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1612610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(92)90280-6" target="_blank">Full Text</a>]
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Awad, M. M., Dalal, D., Cho, E., Amat-Alarcon, N., James, C., Tichnell, C., Tucker, A., Russell, S. D., Bluemke, D. A., Dietz, H. C., Calkins, H., Judge, D. P.
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<strong>DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.</strong>
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Am. J. Hum. Genet. 79: 136-142, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16773573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16773573</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16773573[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=16773573" 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/10.1086/504393" target="_blank">Full Text</a>]
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<a id="Koch1991" class="mim-anchor"></a>
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Koch, P. J., Goldschmidt, M. D., Walsh, M. J., Zimbelmann, R., Franke, W. W.
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<strong>Complete amino acid sequence of the epidermal desmoglein precursor polypeptide and identification of a second type of desmoglein gene.</strong>
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Europ. J. Cell Biol. 55: 200-208, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1935985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1935985</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1935985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Pilichou2006" class="mim-anchor"></a>
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Pilichou, K., Nava, A., Basso, C., Beffagna, G., Bauce, B., Lorenzon, A., Frigo, G., Vettori, A., Valente, M., Towbin, J., Thiene, G., Danieli, G. A., Rampazzo, A.
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<strong>Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.</strong>
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Circulation 113: 1171-1179, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16505173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16505173</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16505173" 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/CIRCULATIONAHA.105.583674" target="_blank">Full Text</a>]
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Posch, M.G., Posch, M. J., Geier, C., Erdmann, B., Mueller, W., Richter, A., Ruppert, V., Pankuweit, S., Maisch, B., Perrot, A., Buttgereit, J., Dietz, R., Haverkamp, W., Ozcelik, C.
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<strong>A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.</strong>
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Molec. Genet. Metab. 95: 74-80, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18678517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18678517</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18678517" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2008.06.005" target="_blank">Full Text</a>]
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<a id="Shiba2021" class="mim-anchor"></a>
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Shiba, M., Higo, S., Kondo, T., Li, J., Liu, L., Ikeda, Y., Kohama, Y., Kameda, S., Tabata, T., Inoue, H., Nakamura, S., Takeda, M., Ito, E., Takashima, S., Miyagawa, S., Sawa, Y., Hikoso, S., Sakata, Y.
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<strong>Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes.</strong>
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Hum. Molec. Genet. 30: 1384-1397, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33949662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33949662</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33949662[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=33949662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddab127" target="_blank">Full Text</a>]
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<a id="Syrris2007" class="mim-anchor"></a>
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Syrris, P., Ward, D., Asimaki, A., Evans, A., Sen-Chowdhry, S., Hughes, S. E., McKenna, W. J.
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<strong>Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.</strong>
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Europ. Heart J. 28: 581-588, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17105751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17105751</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17105751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/eurheartj/ehl380" target="_blank">Full Text</a>]
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</p>
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<a id="8" class="mim-anchor"></a>
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<a id="Wang2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, H., Li, Z.-Y., Liu, Y., Persson, J., Beyer, I., Moller, T., Koyuncu, D., Drescher, M. R., Strauss, R., Zhang, X.-B., Wahl, J. K., III, Urban, N., Drescher, C., Hemminki, A., Fender, P., Lieber, A.
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<strong>Desmoglein 2 is a receptor for adenovirus serotypes 3, 7, 11 and 14.</strong>
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Nature Med. 17: 96-104, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21151137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21151137</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21151137[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=21151137" 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/nm.2270" 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="9" class="mim-anchor"></a>
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<a id="Wang1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, Y., Amagai, M., Minoshima, S., Sakai, K., Green, K. J., Nishikawa, T., Shimizu, N.
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<strong>The human genes for desmogleins (DSG1 and DSG3) are located in a small region on chromosome 18q12.</strong>
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Genomics 20: 492-495, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8034325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8034325</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8034325" 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.1994.1207" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 04/21/2022
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Paul J. Converse - updated : 8/25/2011<br>Marla J. F. O'Neill - updated : 6/26/2009<br>Marla J. F. O'Neill - updated : 8/29/2007<br>Anne M. Stumpf - updated : 6/15/2006<br>Victor A. McKusick - updated : 6/13/2006
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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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 : 6/3/1992
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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 : 04/22/2022
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<span class="mim-text-font">
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carol : 04/21/2022<br>carol : 05/10/2017<br>alopez : 08/04/2016<br>mcolton : 08/04/2015<br>carol : 8/2/2013<br>mgross : 8/26/2011<br>mgross : 8/26/2011<br>terry : 8/25/2011<br>carol : 7/12/2010<br>wwang : 6/26/2009<br>wwang : 9/4/2007<br>terry : 8/29/2007<br>alopez : 6/15/2006<br>terry : 6/13/2006<br>alopez : 8/26/1998<br>dkim : 6/30/1998<br>mark : 4/19/1997<br>carol : 4/18/1994<br>carol : 7/22/1992<br>carol : 6/3/1992
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</span>
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<span class="mim-font">
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<strong>*</strong> 125671
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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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DESMOGLEIN 2; DSG2
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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HUMAN DESMOGLEIN COLON; HDGC
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</span>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: DSG2</em></strong>
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</span>
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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> : 18:31,498,177-31,549,008 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<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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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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<tbody>
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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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<td>
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<span class="mim-font">
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Arrhythmogenic right ventricular dysplasia 10
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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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610193
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<span class="mim-font">
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Cardiomyopathy, dilated, 1BB
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<span class="mim-font">
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612877
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<td>
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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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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<span class="mim-text-font">
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<p>The desmosomal cadherins are potential cell adhesion molecules of the desmosome type of cell junction by virtue of their homology to the cadherin class of cell adhesion molecules. Two classes of desmosomal cadherins are known, namely, the desmogleins and the desmocollins (see 125645). Koch et al. (1991) described a second type of desmoglein gene (DSG2), expressed in colon, colon carcinoma, and other simple and stratified epithelial-derived cell lines, which they called HDGC for 'human-desmoglein-colon.' </p>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Arnemann et al. (1992) used PCR on somatic cell hybrids to map the DSG2 gene to chromosome 18, the same chromosome that carries the DSG1 gene (125670). They noted that the DCC gene (120470), which is involved in colon cancer, is located on 18q. The DSG2 gene may lie in a cluster of DSG genes in band 18q12. Wang et al. (1994) found by fluorescence in situ hybridization that DSG1 and DSG3 are located in that band; furthermore, both genes were localized on a 320-kb genomic fragment separated by pulsed field gel electrophoresis. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Most human adenovirus serotypes use CAR (CXADR; 602621) as a primary attachment receptor. However, this is not the case for species B adenoviruses, which can be grouped based on receptor usage. Group-1 viruses (Ad16, Ad21, Ad35, and Ad50) use CD46 (MCP; 120920) almost exclusively, whereas group-2 viruses (Ad3, Ad7, and Ad14) share an unidentified receptor distinct from CD46. The group-3 virus (Ad11) preferentially uses CD46, but it can also use the group-2 receptor if CD46 is blocked. Using Ad3 virions and recombinant Ad3 dodecahedral particles, Wang et al. (2011) identified DSG2 as a high-affinity cellular receptor for the group-2/3 species B adenoviruses (AdB-2/3). AdB-2/3 binding to DSG2 triggered epithelial-to-mesenchymal transition, leading to transient opening of intercellular junctions and access to receptors trapped in intercellular junctions, such as CD46 and HER2 (ERBB2; 164870). Wang et al. (2011) concluded that the identification of the AdB-2/3 receptor sheds light on adenovirus biology and pathogenesis and possibly on the role of DSG2, which is overexpressed in epithelial malignancies. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Arrhythmogenic Right Ventricular Dysplasia 10</em></strong></p><p>
|
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Arrhythmogenic right ventricular dysplasia (ARVD; see 107970) is a myocardial disease characterized by progressive fibrofatty replacement of the cardiac myocytes of the right ventricular wall, resulting in reentrant arrhythmias and sudden death. Pilichou et al. (2006) analyzed the DSG2 gene in 54 probands of Italian descent with ARVD who were negative for mutations in the TGFB3 (190230), DSP (125647), and PKP2 (602861) genes. They identified 8 probands with ARVD10 (610193) caused by mutations in the DSG2 gene, including 5 missense mutations, 2 insertion-deletions, 1 nonsense mutation, and 1 splice site mutation. Seven probands were heterozygous (see, e.g., 125671.0006), and 1 proband was compound heterozygous (125671.0007 and 125671.0008). </p><p>Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is inherited as an autosomal dominant with reduced penetrance, although autosomal recessive forms of the disease also occur, as in Naxos syndrome (601214) and Carvajal syndrome (605676). Awad et al. (2006) identified 4 probands with ARVD10 caused by mutations in the DSG2 gene. One proband had compound heterozygous mutations in DSG2 (see 125671.0001), and the remaining 3 had isolated heterozygous missense mutations (125671.0003-125671.0005, respectively), each disrupting known functional components of desmoglein-2. </p><p>Syrris et al. (2007) sequenced the DSG2 gene in 86 Caucasian ARVC patients known to be negative for mutations in the DSP, PKP2, and JUP (173325) genes and detected 8 mutations in 9 probands (see, e.g., V55M, 125671.0009); all of the mutations were predicted to disrupt functionally important parts of DSG2, and none were found in 400 control chromosomes. Clinical evaluation of mutation-positive family members demonstrated penetrance of 58 to 75%, depending on the criteria used; disease expression was of variable severity with left ventricular involvement a prominent feature. </p><p><strong><em>Dilated Cardiomyopathy 1BB</em></strong></p><p>
|
|
Posch et al. (2008) analyzed the DSG2 gene in 73 patients with familial dilated cardiomyopathy (see 612877) and identified homozygosity for the V55M variant (125671.0009) in a severely affected proband; his affected father and asymptomatic mother were both heterozygous for V55M, which was not found in 360 control alleles. Immunostaining and electron microscopy of explanted left ventricular wall myocardium from the homozygous proband revealed pale intercalated discs and significantly shorter desmosomes compared to wildtype myocardium. The authors screened an additional 538 sporadic CMD patients for the DSG2 V55M variant and identified 13 unrelated carriers (2.4%); the variant was also found in 1 (0.23%) of 432 individuals without CMD (p less than 0.006). Posch et al. (2008) concluded that V55M is a polymorphic risk variant for dilated cardiomyopathy. </p><p>Shiba et al. (2021) identified a homozygous nonsense mutation in the DSG2 gene (R119X; 125671.0010) in a patient with CMD1BB. Both parents were heterozygous for the mutation and asymptomatic. Cardiac tissue from the patient demonstrated diffuse fibrosis and cardiomyocyte size variation, and immunohistochemical analysis revealed absence of desmoglein-2 in intercalated discs. Immunostaining in induced pluripotent stem cells (iPSCs) derived from the patient demonstrated absence of desmoglein-2 protein. The iPSCs were differentiated into cardiomyocytes, which displayed abnormal ectopic electrical activity, abnormal structural formation, and abnormal contractile force compared to control cells. AAV-mediated DSG2 gene replacement in the patient-derived cardiomyocytes remediated the abnormal contractile force. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>10 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">
|
|
<strong>.0001 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10</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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DSG2, ARG48HIS
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<br />
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SNP: rs121913006,
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gnomAD: rs121913006,
|
|
|
|
|
|
ClinVar: RCV000018303, RCV000181198, RCV000211715, RCV002254518
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD10; 610193), Awad et al. (2006) found compound heterozygosity for mutations in the DSG2 gene. One was a G-to-A transition at nucleotide 134 in exon 3, which results in the substitution of a conserved arginine with histidine (R48H). These arginines occur as the first and fourth amino acids within the RXKR furin-cleavage motif. The second mutation present in the patient of Awad et al. (2006) was a 915G-A transition in exon 8 resulting in premature termination at codon trp305 (W305X; 125671.0002). The W305X mutation was present in heterozygous state in the unaffected sister and mother of the proband with compound heterozygosity. Awad et al. (2006) suggested that this may indicate incomplete penetrance or that the W305X mutation is insufficient to result in ARVD/C in isolation. Because the mutation creates a premature termination codon, mutant transcripts were predicted to be rapidly degraded by the nonsense-mediated mRNA decay (NMD) pathway. This would then suggest that haploinsufficiency for desmoglein-2 is not the mechanism for disease. The patient had structural and functional right ventricular abnormality, ECG depolarization abnormality, ECG repolarization abnormality, and diagnostic arrhythmias. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0002 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10</strong>
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</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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DSG2, TRP305TER
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<br />
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SNP: rs121913007,
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ClinVar: RCV000018304, RCV000181248, RCV002496397, RCV003996106
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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>For discussion of the trp305-to-ter (W305X) mutation in the DSG2 gene that was found in compound heterozygous state in a patient with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD10; 610193) by Awad et al. (2006), see 125671.0001. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0003 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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DSG2, ARG45GLN
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<br />
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SNP: rs121913008,
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|
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gnomAD: rs121913008,
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|
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|
ClinVar: RCV000018305, RCV000181197, RCV000211714, RCV001798008, RCV002381255, RCV002482885
|
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|
|
|
</span>
|
|
</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In an individual with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD10; 610193), Awad et al. (2006) found a heterozygous arg45-to-gln (R45Q) mutation in the DSG2 gene. The amino acid substitution arose from a 134G-A transition in exon 3. </p>
|
|
</span>
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|
</div>
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<div>
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|
<br />
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|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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DSG2, CYS506TYR
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<br />
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SNP: rs121913009,
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|
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gnomAD: rs121913009,
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|
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ClinVar: RCV000018306, RCV001178344, RCV001588816, RCV002390115, RCV002476988, RCV003996107
|
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|
|
|
</span>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with arrhythmogenic right ventricular dysplasia (ARVD10; 610193), Awad et al. (2006) identified a heterozygous G-to-A transition at nucleotide 1517 in exon 11 of the DSG2 gene that caused a cys506-to-tyr (C506Y) substitution in desmoglein-2. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
|
|
</div>
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|
</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
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|
|
|
DSG2, GLY811CYS
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs121913010,
|
|
|
|
|
|
gnomAD: rs121913010,
|
|
|
|
|
|
ClinVar: RCV000018307, RCV000037286, RCV000618751, RCV001183802, RCV002223761, RCV003914852
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with arrhythmogenic right ventricular dysplasia (ARVD10; 610193), Awad et al. (2006) identified a gly811-to-cys (G811C) mutation in desmoglein-2 that arose from a 2431G-T transversion in the DSG2 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DSG2, ASN266SER
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs121913011,
|
|
|
|
|
|
gnomAD: rs121913011,
|
|
|
|
|
|
ClinVar: RCV000018308
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 55-year-old woman with arrhythmogenic right ventricular dysplasia (ARVD10; 610193), Pilichou et al. (2006) identified heterozygosity for a 797A-G transition in exon 7 of the DSG2 gene, resulting in an asn266-to-ser (N266S) substitution at a highly conserved residue located in a putative calcium-binding site. An unaffected 32-year-old daughter also carried the mutation, as did a 24-year-old son, who was found to have negative T waves in V1 and V2 on ECG, right ventricular dilation and kinetic abnormalities on 2-D echocardiogram, and nonsustained ventricular arrhythmias. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DSG2, GLU331LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913012,
|
|
|
|
|
|
gnomAD: rs121913012,
|
|
|
|
|
|
ClinVar: RCV000018309, RCV000029673, RCV000852473, RCV001778657
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sisters with arrhythmogenic right ventricular dysplasia (ARVD10; 610193), Pilichou et al. (2006) identified compound heterozygosity for a 991G-A transition in exon 8 of the DSG2 gene, resulting in a glu331-to-lys (E331K) substitution, and an A-to-G transition in the acceptor splice site of intron 12 of the DSG2 gene (1881-2A-G; 125671.0008). Sequence analysis of the aberrant DSG2 transcript from lymphocyte RNA of the 63-year-old proband showed that the latter mutation activates an alternative cryptic splice site in exon 13, predicted to result in a truncated 646-amino acid protein lacking the cytoplasmic domain. Their unaffected mother and an unaffected daughter of the proband were heterozygous for the E331K mutation, and a daughter with unknown disease status was heterozygous for the splice site mutation. The authors noted that although both mutations were potentially pathogenic, the possibility that the E331K mutation was a rare polymorphism could not be ruled out. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DSG2, IVS12AS, A-G, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514038,
|
|
|
|
|
|
|
|
ClinVar: RCV000018310, RCV000181225, RCV000211716
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the DSG2 gene (1881-2A-G) that was found in compound heterozygous state in 2 sisters with arrhythmogenic right ventricular dysplasia (ARVD10; 610193) by Pilichou et al. (2006), see 125671.0007. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
CARDIOMYOPATHY, DILATED, 1BB, SUSCEPTIBILITY TO, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DSG2, VAL55MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913013,
|
|
|
|
|
|
gnomAD: rs121913013,
|
|
|
|
|
|
ClinVar: RCV000018311, RCV000018312, RCV000037270, RCV000148471, RCV000157179, RCV000157180, RCV000243248, RCV000757183, RCV000769508, RCV000852739, RCV003944829
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 45-year-old woman who presented with syncope and was found to have QRS prolongation and a mildly enlarged right ventricle with hypokinesia of the RV outflow tract and apicolateral wall (ARVD10; 610193), Syrris et al. (2007) identified a 165G-A transition in exon 3 of the DSG2 gene, resulting in a val56-to-met (V56M) substitution at a highly conserved residue in the EC1 extracellular domain. Family members were unavailable for study; the mutation was not found in 400 control chromosomes. </p><p>In a man with dilated cardiomyopathy (CMD1BB; 612877) who had severely decreased cardiac function and underwent cardiac transplantation at 44 years of age, Posch et al. (2008) identified homozygosity for the V55M mutation in the DSG2 gene. The proband's father, who had less severe disease with a later onset, was heterozygous for the mutation, as was his asymptomatic mother; his paternal grandfather had died of heart failure at 57 years of age. Posch et al. (2008) screened an additional 538 sporadic CMD patients for the DSG2 V55M variant and identified 13 unrelated carriers (2.4%), none of whom had clinical evidence of ARVD; the variant was also found in 1 (0.23%) of 432 individuals without CMD (p less than 0.006). Immunostaining and electron microscopy of explanted left ventricular wall myocardium from the homozygous proband revealed pale, irregularly shaped intercalated discs with an indistinct inner structure and significantly shorter desmosomes compared to wildtype myocardium. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 CARDIOMYOPATHY, DILATED, 1BB</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DSG2, ARG119TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs753052874,
|
|
|
|
|
|
gnomAD: rs753052874,
|
|
|
|
|
|
ClinVar: RCV001524075, RCV002251768, RCV002334573, RCV002466679, RCV003771576, RCV004007253, RCV005014578
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with dilated cardiomyopathy-1BB (CMD1BB; 612877), Shiba et al. (2021) identified a homozygous c.355C-T transition in the DSG2 gene, resulting in an arg119-to-ter (R119X) substitution. The mutation, which was found by sequencing a panel of 404 cardiovascular genes, was present in heterozygous state in the asymptomatic parents. The mutation was not present in the 1000 Genomes Project database and was present in the ExAC database at an allele frequency of 1/65454 in the European population and 2/8512 in the East Asian population. Immunohistochemical analysis of heart tissue from the patient revealed absence of desmoglien-2 in intercalated discs. Immunostaining in induced pluripotent stem cells (iPSCs) derived from the patient demonstrated absence of desmoglein-2 protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
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|
|
</div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Arnemann, J., Spurr, N. K., Magee, A. I., Buxton, R. S.
|
|
<strong>The human gene (DSG2) coding for HDGC, a second member of the desmoglein subfamily of the desmosomal cadherins, is, like DSG1 coding for desmoglein DGI, assigned to chromosome 18.</strong>
|
|
Genomics 13: 484-486, 1992.
|
|
|
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|
|
[PubMed: 1612610]
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|
|
[Full Text: https://doi.org/10.1016/0888-7543(92)90280-6]
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</p>
|
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Awad, M. M., Dalal, D., Cho, E., Amat-Alarcon, N., James, C., Tichnell, C., Tucker, A., Russell, S. D., Bluemke, D. A., Dietz, H. C., Calkins, H., Judge, D. P.
|
|
<strong>DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.</strong>
|
|
Am. J. Hum. Genet. 79: 136-142, 2006.
|
|
|
|
|
|
[PubMed: 16773573]
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|
|
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|
|
[Full Text: https://doi.org/10.1086/504393]
|
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Koch, P. J., Goldschmidt, M. D., Walsh, M. J., Zimbelmann, R., Franke, W. W.
|
|
<strong>Complete amino acid sequence of the epidermal desmoglein precursor polypeptide and identification of a second type of desmoglein gene.</strong>
|
|
Europ. J. Cell Biol. 55: 200-208, 1991.
|
|
|
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|
|
[PubMed: 1935985]
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|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Pilichou, K., Nava, A., Basso, C., Beffagna, G., Bauce, B., Lorenzon, A., Frigo, G., Vettori, A., Valente, M., Towbin, J., Thiene, G., Danieli, G. A., Rampazzo, A.
|
|
<strong>Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.</strong>
|
|
Circulation 113: 1171-1179, 2006.
|
|
|
|
|
|
[PubMed: 16505173]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/CIRCULATIONAHA.105.583674]
|
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|
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|
|
</p>
|
|
</li>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Posch, M.G., Posch, M. J., Geier, C., Erdmann, B., Mueller, W., Richter, A., Ruppert, V., Pankuweit, S., Maisch, B., Perrot, A., Buttgereit, J., Dietz, R., Haverkamp, W., Ozcelik, C.
|
|
<strong>A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.</strong>
|
|
Molec. Genet. Metab. 95: 74-80, 2008.
|
|
|
|
|
|
[PubMed: 18678517]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2008.06.005]
|
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|
|
</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
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Shiba, M., Higo, S., Kondo, T., Li, J., Liu, L., Ikeda, Y., Kohama, Y., Kameda, S., Tabata, T., Inoue, H., Nakamura, S., Takeda, M., Ito, E., Takashima, S., Miyagawa, S., Sawa, Y., Hikoso, S., Sakata, Y.
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<strong>Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes.</strong>
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[PubMed: 33949662]
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[Full Text: https://doi.org/10.1093/hmg/ddab127]
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Syrris, P., Ward, D., Asimaki, A., Evans, A., Sen-Chowdhry, S., Hughes, S. E., McKenna, W. J.
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<strong>Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.</strong>
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Europ. Heart J. 28: 581-588, 2007.
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[PubMed: 17105751]
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[Full Text: https://doi.org/10.1093/eurheartj/ehl380]
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Wang, H., Li, Z.-Y., Liu, Y., Persson, J., Beyer, I., Moller, T., Koyuncu, D., Drescher, M. R., Strauss, R., Zhang, X.-B., Wahl, J. K., III, Urban, N., Drescher, C., Hemminki, A., Fender, P., Lieber, A.
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<strong>Desmoglein 2 is a receptor for adenovirus serotypes 3, 7, 11 and 14.</strong>
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Nature Med. 17: 96-104, 2011.
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[PubMed: 21151137]
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[Full Text: https://doi.org/10.1038/nm.2270]
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Wang, Y., Amagai, M., Minoshima, S., Sakai, K., Green, K. J., Nishikawa, T., Shimizu, N.
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<strong>The human genes for desmogleins (DSG1 and DSG3) are located in a small region on chromosome 18q12.</strong>
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Genomics 20: 492-495, 1994.
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[PubMed: 8034325]
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[Full Text: https://doi.org/10.1006/geno.1994.1207]
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Hilary J. Vernon - updated : 04/21/2022<br>Paul J. Converse - updated : 8/25/2011<br>Marla J. F. O'Neill - updated : 6/26/2009<br>Marla J. F. O'Neill - updated : 8/29/2007<br>Anne M. Stumpf - updated : 6/15/2006<br>Victor A. McKusick - updated : 6/13/2006
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