5131 lines
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Entry
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- *601282 - PLECTIN; PLEC
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*601282</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/601282">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000178209;t=ENST00000345136" 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=5339" 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=601282" 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=ENSG00000178209;t=ENST00000345136" 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_000445,NM_001410941,NM_201378,NM_201379,NM_201380,NM_201381,NM_201382,NM_201383,NM_201384,XM_005250976,XM_005250978,XM_005250979,XM_005250980,XM_005250981,XM_005250982,XM_005250983,XM_005250984,XM_006716588,XM_006716589,XM_006716590,XM_011517130,XM_011517131,XM_011517132,XM_047421869,XM_047421870,XM_047421872,XM_047421873,XM_047421874,XM_047421875,XM_047421877,XM_047421878,XM_047421879,XM_047421880,XM_047421881,XM_047421882,XM_047421884,XM_047421886,XM_047421887,XM_047421888,XM_047421889,XM_047421890,XM_047421891,XM_047421892,XM_047421893,XM_047421895" 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_201384" 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=601282" 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=03180&isoform_id=03180_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/PLEC" 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/1296662,1438506,1477646,1477651,14043217,17225578,17225580,40849930,40849932,40849934,40849936,40849938,40849940,40849942,40849944,41322908,41322910,41322912,41322914,41322916,41322919,41322923,47607492,119602576,119602577,119602578,119602579,119602580,157391371,158066003,209572726,211637717,218103024,530389143,530389147,530389149,530389151,530389153,530389155,530389157,530389159,578816045,578816049,578816051,767953210,767953221,767953224,2217372256,2217372259,2217372262,2217372266,2217372268,2217372272,2217372278,2217372280,2217372283,2217372286,2217372288,2217372290,2217372292,2217372296,2217372298,2217372300,2217372302,2217372304,2217372306,2217372308,2217372310,2217372312,2287780857,2462619819,2462619821,2462619823,2462619825,2462619827,2462619829,2462619832,2462619834,2462619836,2462619838,2462619840,2462619842,2462619844,2462619846,2462619848,2462619851,2462619853,2462619856,2462619858,2462619860,2462619862,2462619864,2462619866,2462619868,2462619870,2462619872,2462619874,2462619876,2462619878,2462619881,2462619883,2462619885,2462619887,2462619889,2462619891" 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/Q15149" 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=5339" 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=ENSG00000178209;t=ENST00000345136" 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=PLEC" 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=PLEC" 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+5339" 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/PLEC" 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:5339" 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/5339" 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=chr8&hgg_gene=ENST00000356346.7&hgg_start=143915153&hgg_end=143976745&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:9069" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/plec" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601282[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=601282[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/PLEC/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/ENSG00000178209" 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=PLEC" 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=PLEC" 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=PLEC" 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.LOVD.nl/PLEC" 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=PLEC&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/PA33399" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:9069" 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:1277961" 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/PLEC#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:1277961" 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/5339/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=5339" 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-030131-8984" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5339" 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=PLEC&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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|
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 398071000, 716701004, 723308003, 726615005<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
601282
|
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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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|
PLECTIN; PLEC
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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>
|
|
<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">
|
|
PLEC1<br />
|
|
PCN; PLTN
|
|
</span>
|
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</h4>
|
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</div>
|
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
|
<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=PLEC" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PLEC</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/8/621?start=-3&limit=10&highlight=621">8q24.3</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr8:143915153-143976745&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'})">8:143,915,153-143,976,745</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=616487,131950,226670,612138,613723" 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="5">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/8/621?start=-3&limit=10&highlight=621">
|
|
8q24.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/616487"> 616487 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
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<p>The PLEC1 gene encodes plectin-1, a 500-kD intermediate filament-binding protein that is one of the largest polypeptides known. It was originally identified as a major component of intermediate filament preparations obtained from cultured cells (<a href="#17" class="mim-tip-reference" title="Pytela, R., Wiche, G. <strong>High molecular weight polypeptides (270,000-340,000) from cultured cells are related to hog brain microtubule-associated proteins but copurify with intermediate filaments.</strong> Proc. Nat. Acad. Sci. 77: 4808-4812, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6933530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6933530</a>] [<a href="https://doi.org/10.1073/pnas.77.8.4808" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6933530">Pytela and Wiche, 1980</a>). It is believed to provide mechanical strength to cells and tissues by acting as a crosslinking element of the cytoskeleton. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6933530" 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="#11" class="mim-tip-reference" title="Liu, C.-G., Maercker, C., Castanon, M. J., Hauptmann, R., Wiche, G. <strong>Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24).</strong> Proc. Nat. Acad. Sci. 93: 4278-4283, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8633055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8633055</a>] [<a href="https://doi.org/10.1073/pnas.93.9.4278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8633055">Liu et al. (1996)</a> cloned and characterized the human plectin gene by screening a placenta cDNA library with previously published human plectin probes (<a href="#21" class="mim-tip-reference" title="Wiche, G., Becker, B., Luber, K., Weitzer, G., Castanon, M. J., Hauptmann, R., Stratowa, C., Stewart, M. <strong>Cloning and sequencing of rat plectin indicates a 466-kD polypeptide chain with a three-domain structure based on a central alpha-helical coiled coil.</strong> J. Cell Biol. 114: 83-99, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2050743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2050743</a>] [<a href="https://doi.org/10.1083/jcb.114.1.83" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2050743">Wiche et al., 1991</a>) and probes derived from rat plectin. The deduced protein sequences for human and rat plectin are 93% identical. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8633055+2050743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="McLean, W. H. I., Pulkkinen, L., Smith, F. J. D., Rugg, E. L., Lane, E. B., Bullrich, F., Burgeson, R. E., Amano, S., Hudson, D. L., Owaribe, K., McGrath, J. A., McMillan, J. R., Eady, R. A. J., Leigh, I. M., Christiano, A. M., Uitto, J. <strong>Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.</strong> Genes Dev. 10: 1724-1735, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8698233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8698233</a>] [<a href="https://doi.org/10.1101/gad.10.14.1724" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8698233">McLean et al. (1996)</a> also cloned and sequenced the PLEC1 gene. They showed that the predicted 518-kD polypeptide has homology to the actin-binding domain of the dystrophin family at the amino terminus, a central rod domain, and homology to the intermediate filament-associated protein desmoplakin at the carboxy terminus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8698233" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By RT-PCR, <a href="#8" class="mim-tip-reference" title="Kazerounian, S., Uitto, J., Aho, S. <strong>Unique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentin.</strong> Exp. Derm. 11: 428-438, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12366696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12366696</a>] [<a href="https://doi.org/10.1034/j.1600-0625.2002.110506.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12366696">Kazerounian et al. (2002)</a> surveyed the tissue distribution of several plakin family members, including periplakin (<a href="/entry/602871">602871</a>), plectin, desmoplakin (<a href="/entry/125647">125647</a>), BPAG1 (<a href="/entry/113810">113810</a>), and envoplakin (<a href="/entry/601590">601590</a>). Plectin was expressed in all adult and fetal tissues examined except leukocytes. Only a weak band was obtained from adult brain and thymus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12366696" 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="#14" class="mim-tip-reference" title="Natsuga, K., Nishie, W., Akiyama, M., Nakamura, H., Shinkuma, S., McMillan, J. R., Nagasaki, A., Has, C., Ouchi, T., Ishiko, A., Hirako, Y., Owaribe, K., Sawamura, D., Bruckner-Tuderman, L., Shimizu, H. <strong>Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.</strong> Hum. Mutat. 31: 308-316, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20052759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20052759</a>] [<a href="https://doi.org/10.1002/humu.21189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20052759">Natsuga et al. (2010)</a> determined that human fibroblasts express 2 different plectin isoforms: a 500-kD full-length protein and a 390-kD protein lacking the rod domain. Immunoblot assays found that the quantitative ratio of full-length/rodless plectin was 14.2:1 in fibroblasts, 21.3:1 in keratinocytes, and 1.37:1 in skeletal muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20052759" 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="#11" class="mim-tip-reference" title="Liu, C.-G., Maercker, C., Castanon, M. J., Hauptmann, R., Wiche, G. <strong>Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24).</strong> Proc. Nat. Acad. Sci. 93: 4278-4283, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8633055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8633055</a>] [<a href="https://doi.org/10.1073/pnas.93.9.4278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8633055">Liu et al. (1996)</a> determined that the coding sequence of the plectin gene contains 32 exons that extend over 32 kb of the human genome. Most of the introns reside within a region encoding the globular N-terminal domain of the molecule, whereas the entire central-rod domain and the entire C-terminal globular domain are encoded by single large exons of more than 3 kb and more than 6 kb, respectively. Overall, the organization of the human plectin gene is strikingly similar to that of human bullous pemphigoid antigen-1 (<a href="/entry/113810">113810</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8633055" 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="#23" class="mim-tip-reference" title="Zhang, T., Haws, P., Wu, Q. <strong>Multiple variable first exons: a mechanism for cell- and tissue-specific gene regulation.</strong> Genome Res. 14: 79-89, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14672974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14672974</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14672974[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/10.1101/gr.1225204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14672974">Zhang et al. (2004)</a> identified 8 alternative first exons in the PLEC1 gene that are variably spliced to a common set of downstream constant exons. The coding regions of the alternative first exons are all in the same open reading frame. Almost all variable exons correspond to locations of CpG islands, suggesting that there are multiple promoters controlling PLEC1 gene expression. A similar pattern of alternative first exons spliced to constant downstream exons exists in the mouse and rat Plec1 genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14672974" 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="#10" class="mim-tip-reference" title="Lesniewicz, K., Luscher-Firzlaff, J., Poreba, E., Fuchs, P., Walsemann, G., Wiche, G., Luscher, B. <strong>Overlap of the gene encoding the novel poly(ADP-ribose) polymerase Parp10 with the plectin 1 gene and common use of exon sequences.</strong> Genomics 86: 38-46, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15953538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15953538</a>] [<a href="https://doi.org/10.1016/j.ygeno.2005.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15953538">Lesniewicz et al. (2005)</a> determined that the 3-prime sequence of the mouse Parp10 gene (<a href="/entry/609564">609564</a>) overlaps on the same strand with the 5-prime sequence of the Plec1 gene. Exons 10 and 11 of the Parp10 gene, which encode the last 109 amino acids and the 3-prime UTR of Parp10, are spliced at different sites to form the untranslated exons -1 and 0a of a Plec1 splice variant. <a href="#10" class="mim-tip-reference" title="Lesniewicz, K., Luscher-Firzlaff, J., Poreba, E., Fuchs, P., Walsemann, G., Wiche, G., Luscher, B. <strong>Overlap of the gene encoding the novel poly(ADP-ribose) polymerase Parp10 with the plectin 1 gene and common use of exon sequences.</strong> Genomics 86: 38-46, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15953538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15953538</a>] [<a href="https://doi.org/10.1016/j.ygeno.2005.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15953538">Lesniewicz et al. (2005)</a> identified mouse ESTs containing sequences from both Parp10 and Plec1, but they did not find read-through transcripts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15953538" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By fluorescence in situ hybridization, <a href="#11" class="mim-tip-reference" title="Liu, C.-G., Maercker, C., Castanon, M. J., Hauptmann, R., Wiche, G. <strong>Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24).</strong> Proc. Nat. Acad. Sci. 93: 4278-4283, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8633055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8633055</a>] [<a href="https://doi.org/10.1073/pnas.93.9.4278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8633055">Liu et al. (1996)</a> mapped the plectin gene to 8q24 in a region previously implicated in epidermolysis bullosa simplex of the Ogna type (EBSOG; <a href="/entry/131950">131950</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8633055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Gache, Y., Chavanas, S., Lacour, J. P., Wiche, G., Owaribe, K., Meneguzzi, G., Ortonne, J. P. <strong>Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy.</strong> J. Clin. Invest. 97: 2289-2298, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8636409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8636409</a>] [<a href="https://doi.org/10.1172/JCI118671" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8636409">Gache et al. (1996)</a> presented evidence that epidermolysis bullosa simplex with muscular dystrophy (EBSMD; <a href="/entry/226670">226670</a>) is due to plectin deficiency. Independently and simultaneously, <a href="#19" class="mim-tip-reference" title="Smith, F. J. D., Eady, R. A. J., Leigh, I. M., McMillan, J. R., Rugg, E. L., Kelsell, D. P., Bryant, S. P., Spurr, N. K., Geddes, J. F., Kirtschig, G., Milana, G., de Bono, A. G., Owaribe, K., Wiche, G., Pulkkinen, L., Uitto, J., McLean, W. H. I., Lane, E. B. <strong>Plectin deficiency results in muscular dystrophy with epidermolysis bullosa.</strong> Nature Genet. 13: 450-457, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8696340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8696340</a>] [<a href="https://doi.org/10.1038/ng0896-450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8696340">Smith et al. (1996)</a> observed absence of plectin by antibody staining in affected individuals. EBSMD segregated with markers in the 8q24.13-qter region where the plectin gene is located. They used the rat plectin cDNA sequence to screen the GenBank database for homologous sequences and identified an expressed sequence tag, EST25263, which demonstrated 84% nucleotide homology and 94% protein homology with the 3-prime region of the rat plectin sequence. Using human-specific oligonucleotide primers designed from the sequence data, they screened a monochromosomal somatic cell hybrid panel by PCR amplification and assigned the gene to chromosome 8. Further localization to 8q24.13-qter was achieved using a panel of deletion-translocation hybrids, thus refining the data from fluorescence in situ hybridization analysis that localized the gene to 8q24 (<a href="#11" class="mim-tip-reference" title="Liu, C.-G., Maercker, C., Castanon, M. J., Hauptmann, R., Wiche, G. <strong>Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24).</strong> Proc. Nat. Acad. Sci. 93: 4278-4283, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8633055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8633055</a>] [<a href="https://doi.org/10.1073/pnas.93.9.4278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8633055">Liu et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8636409+8633055+8696340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="McLean, W. H. I., Pulkkinen, L., Smith, F. J. D., Rugg, E. L., Lane, E. B., Bullrich, F., Burgeson, R. E., Amano, S., Hudson, D. L., Owaribe, K., McGrath, J. A., McMillan, J. R., Eady, R. A. J., Leigh, I. M., Christiano, A. M., Uitto, J. <strong>Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.</strong> Genes Dev. 10: 1724-1735, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8698233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8698233</a>] [<a href="https://doi.org/10.1101/gad.10.14.1724" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8698233">McLean et al. (1996)</a> mapped the PLEC1 gene to 8q24. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8698233" 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="#10" class="mim-tip-reference" title="Lesniewicz, K., Luscher-Firzlaff, J., Poreba, E., Fuchs, P., Walsemann, G., Wiche, G., Luscher, B. <strong>Overlap of the gene encoding the novel poly(ADP-ribose) polymerase Parp10 with the plectin 1 gene and common use of exon sequences.</strong> Genomics 86: 38-46, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15953538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15953538</a>] [<a href="https://doi.org/10.1016/j.ygeno.2005.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15953538">Lesniewicz et al. (2005)</a> mapped the mouse Plec1 gene to chromosome 15, immediately downstream of and in a head-to-tail orientation with the Parp10 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15953538" 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>Epidermolysis Bullosa Simplex 5B, with Muscular Dystrophy</em></strong></p><p>
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In affected members of a family with epidermolysis bullosa simplex with muscular dystrophy (EBS5B; <a href="/entry/226670">226670</a>), <a href="#19" class="mim-tip-reference" title="Smith, F. J. D., Eady, R. A. J., Leigh, I. M., McMillan, J. R., Rugg, E. L., Kelsell, D. P., Bryant, S. P., Spurr, N. K., Geddes, J. F., Kirtschig, G., Milana, G., de Bono, A. G., Owaribe, K., Wiche, G., Pulkkinen, L., Uitto, J., McLean, W. H. I., Lane, E. B. <strong>Plectin deficiency results in muscular dystrophy with epidermolysis bullosa.</strong> Nature Genet. 13: 450-457, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8696340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8696340</a>] [<a href="https://doi.org/10.1038/ng0896-450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8696340">Smith et al. (1996)</a> identified a homozygous frameshift mutation in the plectin gene (<a href="#0001">601282.0001</a>). They speculated that the absence of the large multifunctional cytoskeleton protein could account for structural failure in both muscle and skin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8696340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Pulkkinen, L., Smith, F. J. D., Shimizu, H., Murata, S., Yaoita, H., Hachisuka, H., Nishikawa, T., McLean, W. H. I., Uitto, J. <strong>Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy.</strong> Hum. Molec. Genet. 5: 1539-1546, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8894687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8894687</a>] [<a href="https://doi.org/10.1093/hmg/5.10.1539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8894687">Pulkkinen et al. (1996)</a> reported ultrastructural studies and molecular genetic analysis of plectin in 2 probands from different families with EBSMD. In a proband and in her affected sister, they detected a homozygous 9-bp deletion mutation (<a href="#0002">601282.0002</a>). The proband in the second family demonstrated a single nucleotide deletion (<a href="#0003">601282.0003</a>) which resulted in a frameshift and a premature termination codon 16 bp downstream of the mutation. Based on ultrastructural studies <a href="#16" class="mim-tip-reference" title="Pulkkinen, L., Smith, F. J. D., Shimizu, H., Murata, S., Yaoita, H., Hachisuka, H., Nishikawa, T., McLean, W. H. I., Uitto, J. <strong>Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy.</strong> Hum. Molec. Genet. 5: 1539-1546, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8894687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8894687</a>] [<a href="https://doi.org/10.1093/hmg/5.10.1539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8894687">Pulkkinen et al. (1996)</a> concluded that plectin was critical for binding of the intermediate keratin filament network to hemidesmosomal complexes. They also postulated that plectin functioned in muscle as a putative attachment protein mediating binding of actin to membrane complexes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8894687" 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>Epidermolysis Bullosa Simplex 5A, Ogna Type</em></strong></p><p>
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<a href="#9" class="mim-tip-reference" title="Koss-Harnes, D., Hoyheim, B., Anton-Lamprecht, I., Gjesti, A., Jorgensen, R. S., Jahnsen, F. L., Olaisen, B., Wiche, G., Gedde-Dahl, T., Jr. <strong>A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations.</strong> J. Invest. Derm. 118: 87-93, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11851880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11851880</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01591.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11851880">Koss-Harnes et al. (2002)</a> found the same heterozygous missense mutation (<a href="#0005">601282.0005</a>) in the original Norwegian family with epidermolysis bullosa simplex Ogna type (EBS5A; <a href="/entry/131950">131950</a>) and in an unrelated German family. The authors concluded that these 2 mutations arose about 200 years apart. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11851880" 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>Epidermolysis Bullosa Simplex 5C, with Pyloric Atresia</em></strong></p><p>
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<a href="#15" class="mim-tip-reference" title="Pfendner, E., Uitto, J. <strong>Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia.</strong> J. Invest. Derm. 124: 111-115, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15654962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15654962</a>] [<a href="https://doi.org/10.1111/j.0022-202X.2004.23564.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15654962">Pfendner and Uitto (2005)</a> reported 4 consanguineous families in which at least 1 member had EBS with pyloric atresia (EBS5C; <a href="/entry/612138">612138</a>). All patients had extensive blistering at birth with pyloric atresia, most had aplasia cutis, and all died from complications of the disorder shortly after birth. Molecular analysis confirmed homozygous mutations in the PLEC1 gene (see, e.g., <a href="#0007">601282.0007</a> and <a href="#0009">601282.0009</a>). <a href="#15" class="mim-tip-reference" title="Pfendner, E., Uitto, J. <strong>Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia.</strong> J. Invest. Derm. 124: 111-115, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15654962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15654962</a>] [<a href="https://doi.org/10.1111/j.0022-202X.2004.23564.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15654962">Pfendner and Uitto (2005)</a> noted that 1 of the mutations deleted a region that may be important for plectin interaction with alpha-6 (ITGA6; <a href="/entry/147556">147556</a>)/beta-4 (ITGB4; <a href="/entry/147557">147557</a>) integrin, and that mutations in the latter genes result in the phenotypically similar junctional EB-PA (e.g., JEB5B, <a href="/entry/226730">226730</a>). Thus, pyloric atresia in all of these patients is likely related to perturbed interactions between plectin and alpha-6/beta-4 integrin within attachment structures expressed during gastrointestinal development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15654962" 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>Epidermolysis Bullosa Simplex 5D, With Nail Dystrophy</em></strong></p><p>
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In 2 Turkish sisters with epidermolysis bullosa simplex and nail dystrophy (EBS5D; <a href="/entry/616487">616487</a>), <a href="#5" class="mim-tip-reference" title="Gostynska, K. B., Nijenhuis, M., Lemmink, H., Pas, H. H., Pasmooij, A. M. G., Lang, K. K., Castanon, M. J., Wiche, G., Jonkman, M. F. <strong>Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.</strong> Hum. Molec. Genet. 24: 3155-3162, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25712130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25712130</a>] [<a href="https://doi.org/10.1093/hmg/ddv066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25712130">Gostynska et al. (2015)</a> identified homozygosity for a nonsense mutation (R16X; <a href="#0014">601282.0014</a>) present only in the 1a isoform of PLEC1. Because isoform-1a is not expressed in either striated or cardiac muscle tissue, the authors stated that they did not expect these patients to develop muscular dystrophy or cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25712130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated patients with EBS and nail dystrophy, <a href="#20" class="mim-tip-reference" title="Tu, W.-T., Chen, P.-C., Hou, P.-C., Huang, H.-Y., Wang, J.-Y., Chao, S.-C., Lee, J. Y., McGrath, J. A., Natsuga, K., Hsu, C.-K. <strong>Plectin missense mutation p.leu319pro in the pathogenesis of autosomal recessive epidermolysis bullosa simplex.</strong> Acta Derm. Venereol. 100: adv00242, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32725257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32725257</a>] [<a href="https://doi.org/10.2340/00015555-3600" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32725257">Tu et al. (2020)</a> identified compound heterozygosity for a missense mutation (L319P; <a href="#0015">601282.0015</a>) and 2 different nonsense mutations: R2319X (<a href="#0013">601282.0013</a>) in one patient and W936X (<a href="#0016">601282.0016</a>) in the other. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32725257" 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>Autosomal Recessive Limb-Girdle Muscular Dystrophy 17</em></strong></p><p>
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<a href="#6" class="mim-tip-reference" title="Gundesli, H., Talim, B., Korkusuz, P., Balci-Hayta, B., Cirak, S., Akarsu, N. A., Topaloglu, H., Dincer, P. <strong>Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.</strong> Am. J. Hum. Genet. 87: 834-841, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21109228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21109228</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21109228[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/10.1016/j.ajhg.2010.10.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21109228">Gundesli et al. (2010)</a> identified a homozygous 9-bp deletion in exon 1f of the PLEC1 gene (<a href="#0010">601282.0010</a>) in affected members of 3 Turkish families with autosomal recessive limb-girdle muscular dystrophy (LGMDR17; <a href="/entry/613723">613723</a>), previously symbolized LGMD2Q, without skin involvement. The deletion was found to affect only the 1f isoform of plectin. Muscle biopsy from an affected individual showed significantly (100-fold) decreased expression of plectin isoform-1f mRNA and a 3-fold decrease of the plectin protein. Electron microscopic studies of patient muscle showed empty spaces between the sarcolemma and the contractile elements of the sarcomere, separation of membranes, loss of myofibrillar organization in some areas, and misalignment of the Z lines. These findings suggested that PLEC1 isoform-1f is a sarcolemma-associated protein with a specific role in skeletal muscle, and that lack of this isoform results in disruption of the myofiber without affecting other tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21109228" 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="#14" class="mim-tip-reference" title="Natsuga, K., Nishie, W., Akiyama, M., Nakamura, H., Shinkuma, S., McMillan, J. R., Nagasaki, A., Has, C., Ouchi, T., Ishiko, A., Hirako, Y., Owaribe, K., Sawamura, D., Bruckner-Tuderman, L., Shimizu, H. <strong>Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.</strong> Hum. Mutat. 31: 308-316, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20052759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20052759</a>] [<a href="https://doi.org/10.1002/humu.21189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20052759">Natsuga et al. (2010)</a> examined plectin expression patterns in the skin of 3 patients with EBSPA and 6 with EBSMD, all of whom carried mutations in the PLEC1 gene. In EBSPA, expression of all plectin domains was found to be markedly attenuated or completely lost. In EBSMD, the expression of the N- and C-terminal domains of plectin remained detectable, although the expression of rod domains was absent or markedly reduced. The findings suggested that loss of the full-length plectin isoform with residual expression of the rodless plectin isoform leads to EBSMD, but that complete loss or marked attenuation of both the full-length and rodless plectin isoforms underlies the more severe EBSPA phenotype. In addition, the majority of EBSMD-associated PLEC1 mutations occurred within the large exon 31 that encodes the plectin rod domain. EBSPA-associated PLEC1 mutations were generally outside of exon 31. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20052759" 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="#22" class="mim-tip-reference" title="Winter, L., Kuznetsov, A. V., Grimm, M., Zeold, A., Fischer, I., Wiche, G. <strong>Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle.</strong> Hum. Molec. Genet. 24: 4530-4544, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26019234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26019234</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26019234[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/ddv184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26019234">Winter et al. (2015)</a> noted that, in skeletal muscle, the 4 major plectin isoforms, which have distinct N termini, are required for the integrity of myofibers by targeting and anchoring desmin intermediate filaments to Z-disks (isoform-1d), costameres (isoform-1f), mitochondria (isoform-1b), and nuclear and sarcoplasmic reticulum membranes (isoform-1). <a href="#22" class="mim-tip-reference" title="Winter, L., Kuznetsov, A. V., Grimm, M., Zeold, A., Fischer, I., Wiche, G. <strong>Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle.</strong> Hum. Molec. Genet. 24: 4530-4544, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26019234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26019234</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26019234[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/ddv184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26019234">Winter et al. (2015)</a> found that striated muscle-specific knockdown of Plec1 in mice reduced mitochondrial content and respiratory capacity and altered mitochondrial morphology and position at Z-disk structures in heart and in soleus and gastrocnemius skeletal muscle. Defects in Plec1 -/- muscle increased with age, and gastrocnemius showed the most severe phenotype. Specific knockout of plectin isoform-1b caused severe mitochondrial dysfunction compared with knockout of isoform-1d, with decoupling of mitochondrial networks and mitochondrial enlargement, concomitant with upregulation of the mitochondrial fusion-associated protein Mfn2 (<a href="/entry/608507">608507</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26019234" 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">rs786205251 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205251;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=rs786205251" 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=rs786205251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with epidermolysis bullosa simplex with muscular dystrophy (EBS5B; <a href="/entry/226670">226670</a>), <a href="#19" class="mim-tip-reference" title="Smith, F. J. D., Eady, R. A. J., Leigh, I. M., McMillan, J. R., Rugg, E. L., Kelsell, D. P., Bryant, S. P., Spurr, N. K., Geddes, J. F., Kirtschig, G., Milana, G., de Bono, A. G., Owaribe, K., Wiche, G., Pulkkinen, L., Uitto, J., McLean, W. H. I., Lane, E. B. <strong>Plectin deficiency results in muscular dystrophy with epidermolysis bullosa.</strong> Nature Genet. 13: 450-457, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8696340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8696340</a>] [<a href="https://doi.org/10.1038/ng0896-450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8696340">Smith et al. (1996)</a> found a homozygous 8-bp duplication mutation (insertion of the sequence GTGGAGGA) leading to a premature termination codon 14 bp downstream of the insertion. This frameshift mutation was predicted to cause premature termination of translation in the R2C subdomain of the plectin polypeptide within the rod domain predicted to be involved in polymerization. <a href="#19" class="mim-tip-reference" title="Smith, F. J. D., Eady, R. A. J., Leigh, I. M., McMillan, J. R., Rugg, E. L., Kelsell, D. P., Bryant, S. P., Spurr, N. K., Geddes, J. F., Kirtschig, G., Milana, G., de Bono, A. G., Owaribe, K., Wiche, G., Pulkkinen, L., Uitto, J., McLean, W. H. I., Lane, E. B. <strong>Plectin deficiency results in muscular dystrophy with epidermolysis bullosa.</strong> Nature Genet. 13: 450-457, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8696340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8696340</a>] [<a href="https://doi.org/10.1038/ng0896-450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8696340">Smith et al. (1996)</a> stated that such a genetic lesion is likely to cause loss of protein expression through nonsense-mediated decay of the predicted 15-kb plectin mRNA. The clinically unaffected parents were heterozygous for this mutation, consistent with the recessive inheritance of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8696340" 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> rs786205252 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205252;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/rs786205252?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=rs786205252" 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=rs786205252" 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=RCV000008748 OR RCV000274705 OR RCV001383874 OR RCV002247277" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008748, RCV000274705, RCV001383874, RCV002247277" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008748...</a>
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<p>In 2 sisters with skin blistering since birth and onset of muscular dystrophy in the third decade (EBS5B; <a href="/entry/226670">226670</a>), <a href="#16" class="mim-tip-reference" title="Pulkkinen, L., Smith, F. J. D., Shimizu, H., Murata, S., Yaoita, H., Hachisuka, H., Nishikawa, T., McLean, W. H. I., Uitto, J. <strong>Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy.</strong> Hum. Molec. Genet. 5: 1539-1546, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8894687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8894687</a>] [<a href="https://doi.org/10.1093/hmg/5.10.1539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8894687">Pulkkinen et al. (1996)</a> identified a homozygous 9-bp deletion at position 2719 (2719del9) of the plectin gene. The mutation results in a deletion of gln-glu-ala and loss of a BglI restriction site. The clinically unaffected parents were first cousins and the mother was shown to be heterozygous for the deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8894687" 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> rs786205253 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205253;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/rs786205253?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=rs786205253" 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=rs786205253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a woman with skin blistering and muscle weakness (EBS5B; <a href="/entry/226670">226670</a>), <a href="#16" class="mim-tip-reference" title="Pulkkinen, L., Smith, F. J. D., Shimizu, H., Murata, S., Yaoita, H., Hachisuka, H., Nishikawa, T., McLean, W. H. I., Uitto, J. <strong>Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy.</strong> Hum. Molec. Genet. 5: 1539-1546, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8894687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8894687</a>] [<a href="https://doi.org/10.1093/hmg/5.10.1539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8894687">Pulkkinen et al. (1996)</a> identified a homozygous 1-bp deletion (5866delC) in the plectin gene. This frameshift creates a premature termination codon which predicts synthesis of a truncated plectin polypeptide and reduced mRNA expression. Both unaffected parents were deceased. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8894687" 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">rs786205254 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205254;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=rs786205254" 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=rs786205254" 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=RCV000008750" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008750" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008750</a>
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<p>In a 24-year old Hispanic male with muscular dystrophy and epidermolysis bullosa simplex (EBS5B; <a href="/entry/226670">226670</a>), <a href="#12" class="mim-tip-reference" title="McLean, W. H. I., Pulkkinen, L., Smith, F. J. D., Rugg, E. L., Lane, E. B., Bullrich, F., Burgeson, R. E., Amano, S., Hudson, D. L., Owaribe, K., McGrath, J. A., McMillan, J. R., Eady, R. A. J., Leigh, I. M., Christiano, A. M., Uitto, J. <strong>Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.</strong> Genes Dev. 10: 1724-1735, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8698233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8698233</a>] [<a href="https://doi.org/10.1101/gad.10.14.1724" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8698233">McLean et al. (1996)</a> identified a homozygous 8-bp deletion in exon 32 of the PLEC1 gene causing a frameshift and a premature termination codon 42 bp downstream. The clinically unaffected parents, who were first cousins, were found to be heterozygous carriers of the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8698233" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs80338756 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338756;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/rs80338756?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=rs80338756" 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=rs80338756" 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=RCV000008751 OR RCV000519116 OR RCV001352838 OR RCV001381863" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008751, RCV000519116, RCV001352838, RCV001381863" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008751...</a>
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<p>In the original Norwegian family with autosomal dominant epidermolysis bullosa simplex Ogna type (EBS5A; <a href="/entry/131950">131950</a>) reported by <a href="#4" class="mim-tip-reference" title="Gedde-Dahl, T., Jr. <strong>Epidermolysis Bullosa: A Clinical, Genetic and Epidemiological Study.</strong> Baltimore: Johns Hopkins Press (pub.) 1971."None>Gedde-Dahl (1971)</a> and in a German family, <a href="#9" class="mim-tip-reference" title="Koss-Harnes, D., Hoyheim, B., Anton-Lamprecht, I., Gjesti, A., Jorgensen, R. S., Jahnsen, F. L., Olaisen, B., Wiche, G., Gedde-Dahl, T., Jr. <strong>A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations.</strong> J. Invest. Derm. 118: 87-93, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11851880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11851880</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01591.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11851880">Koss-Harnes et al. (2002)</a> reported a heterozygous C-to-T transition in exon 31 of the PLEC1 gene resulting in an arg2110-to-trp (R2110W) substitution in the plectin polypeptide. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11851880" 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="Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., and 10 others. <strong>Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.</strong> Brit. J. Derm. 183: 614-627, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32017015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32017015</a>] [<a href="https://doi.org/10.1111/bjd.18921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32017015">Has et al. (2020)</a> reported this mutation as c.5998C-T, ARG2000TRP (R2000W). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32017015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA</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">rs864309671 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864309671;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=rs864309671" 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=rs864309671" 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=RCV000008752" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008752" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008752</a>
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<p>In 3 sisters with epidermolysis bullosa simplex with pyloric atresia (EBS5C; <a href="/entry/612138">612138</a>), born of consanguineous Turkish parents, <a href="#2" class="mim-tip-reference" title="Charlesworth, A., Gagnoux-Palacios, L., Bonduelle, M., Ortonne, J.- P., De Raeve, L., Meneguzzi, G. <strong>Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin.</strong> J. Invest. Derm. 121: 1344-1348, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14675180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14675180</a>] [<a href="https://doi.org/10.1111/j.1523-1747.2003.12639.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14675180">Charlesworth et al. (2003)</a> identified a homozygous 14-bp deletion at nucleotide 2727 in the PLEC1 gene. The deletion was predicted to result in an out-of-frame shift, premature termination, and disruption of the plakin globular domain. The mutation was not identified in 80 control chromosomes. The patients had a severe blistering disorder with onset in utero, aplasia cutis at birth, and evidence of pyloric atresia. All died within hours of birth or by termination of the pregnancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14675180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA</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">rs137853160 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853160;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=rs137853160" 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=rs137853160" 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=RCV000008753" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008753" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008753</a>
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<p>In a patient with epidermolysis bullosa simplex with pyloric atresia (EBS5C; <a href="/entry/612138">612138</a>), <a href="#13" class="mim-tip-reference" title="Nakamura, H., Sawamura, D., Goto, M., Nakamura, H., McMillan, J. R., Park, S., Kono, S., Hasegawa, S., Paku, S., Nakamura, T., Ogiso, Y., Shimizu, H. <strong>Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).</strong> J. Molec. Diagn. 7: 28-35, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15681471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15681471</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15681471[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/10.1016/S1525-1578(10)60005-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15681471">Nakamura et al. (2005)</a> identified compound heterozygosity for 2 mutations in the PLEC1 gene: a 913C-T transition in exon 9 resulting in a gln305-to-ter (Q305X) substitution, and a 1344G-A transition at the 3-prime end of exon 12 resulting in abnormal splicing (<a href="#0008">601282.0008</a>). The patient was born with widespread blisters and ulcers and died at age 16 months. An older brother was similarly affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15681471" 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 Lebanese patient with lethal EBSPA, born of consanguineous parents, <a href="#15" class="mim-tip-reference" title="Pfendner, E., Uitto, J. <strong>Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia.</strong> J. Invest. Derm. 124: 111-115, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15654962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15654962</a>] [<a href="https://doi.org/10.1111/j.0022-202X.2004.23564.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15654962">Pfendner and Uitto (2005)</a> identified homozygosity for the Q305X mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15654962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs864309672 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864309672;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/rs864309672?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=rs864309672" 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=rs864309672" 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=RCV000008754" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008754" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008754</a>
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<p>For discussion of the splice site mutation in the PLEC1 gene that was found in compound heterozygous state in a patient with epidermolysis bullosa simplex with pyloric atresia (EBS5C; <a href="/entry/612138">612138</a>) by <a href="#13" class="mim-tip-reference" title="Nakamura, H., Sawamura, D., Goto, M., Nakamura, H., McMillan, J. R., Park, S., Kono, S., Hasegawa, S., Paku, S., Nakamura, T., Ogiso, Y., Shimizu, H. <strong>Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).</strong> J. Molec. Diagn. 7: 28-35, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15681471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15681471</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15681471[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/10.1016/S1525-1578(10)60005-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15681471">Nakamura et al. (2005)</a>, see <a href="#0007">601282.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15681471" 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 EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137853161 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853161;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/rs137853161?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=rs137853161" 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=rs137853161" 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=RCV000008755 OR RCV001851744" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008755, RCV001851744" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008755...</a>
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<p>In a child with epidermolysis bullosa simplex with pyloric atresia (EBS5C; <a href="/entry/612138">612138</a>), <a href="#15" class="mim-tip-reference" title="Pfendner, E., Uitto, J. <strong>Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia.</strong> J. Invest. Derm. 124: 111-115, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15654962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15654962</a>] [<a href="https://doi.org/10.1111/j.0022-202X.2004.23564.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15654962">Pfendner and Uitto (2005)</a> identified a homozygous C-to-T transition in exon 33 of the PLEC1 gene, resulting in an arg3029-to-ter (R3029X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15654962" 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> rs864309673 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864309673;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/rs864309673?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=rs864309673" 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=rs864309673" 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=RCV000023089 OR RCV001814009" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023089, RCV001814009" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023089...</a>
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<p>In affected members of 3 unrelated consanguineous Turkish families with autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMDR17; <a href="/entry/613723">613723</a>), <a href="#6" class="mim-tip-reference" title="Gundesli, H., Talim, B., Korkusuz, P., Balci-Hayta, B., Cirak, S., Akarsu, N. A., Topaloglu, H., Dincer, P. <strong>Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.</strong> Am. J. Hum. Genet. 87: 834-841, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21109228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21109228</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21109228[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/10.1016/j.ajhg.2010.10.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21109228">Gundesli et al. (2010)</a> identified a homozygous 9-bp deletion (1_9delATGGCCGGC) in exon 1f of the PLEC1 gene. The deletion included the initiation codon. Haplotype analysis indicated a founder effect. The phenotype was characterized by early childhood onset of proximal muscle weakness and atrophy, and, in 1 family, progression of the disorder in adolescence. There was no skin involvement. Muscle biopsy from an affected individual showed significantly (100-fold) decreased expression of plectin isoform-1f mRNA and a 3-fold decrease of the plectin protein. Examination of control skeletal muscle with antibodies against the rod domains of all plectin isoforms showed strong sarcoplasmic staining, but irregular and weak sarcolemmal staining of type 2 fibers, and only rare and faint staining for type 1 fibers. In patient muscle, there was no sarcolemmal staining of type 2 fibers. Electron microscopic studies of patient muscle showed empty spaces between the sarcolemma and the contractile elements of the sarcomere, separation of membranes, loss of myofibrillar organization in some areas, and misalignment of the Z lines. These findings suggested that isoform 1f is a sarcolemma-associated protein with a specific role in skeletal muscle, and that lack of this isoform results in disruption of the myofiber without affecting other tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21109228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY</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">rs864309674 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864309674;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=rs864309674" 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=rs864309674" 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=RCV000023090" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023090" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023090</a>
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<p>In 2 unrelated African American patients with epidermolysis bullosa simplex and muscular dystrophy (EBS5B; <a href="/entry/226670">226670</a>) with myasthenic features, 1 of whom was previously reported by <a href="#1" class="mim-tip-reference" title="Banwell, B. L., Russel, J., Fukudome, T., Shen, X. M., Stilling, G., Engel, A. G. <strong>Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency.</strong> J. Neuropath. Exp. Neurol. 58: 832-846, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10446808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10446808</a>] [<a href="https://doi.org/10.1097/00005072-199908000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10446808">Banwell et al. (1999)</a>, <a href="#18" class="mim-tip-reference" title="Selcen, D., Juel, V. C., Hobson-Webb, L. D., Smith, E. C., Stickler, D. E., Bite, A. V., Ohno, K., Engel, A. G. <strong>Myasthenic syndrome caused by plectinopathy.</strong> Neurology 76: 327-336, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21263134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21263134</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21263134[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31820882bd" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21263134">Selcen et al. (2011)</a> identified compound heterozygosity for 2 mutations in the PLEC1 gene: both patients carried a 1-bp duplication (12043dupG) in exon 32, predicted to result in frameshift and premature termination, and another pathogenic PLEC1 mutation. One patient had a 6169C-T transition in exon 31, resulting in a gln2057-to-ter (Q2057X; <a href="#0012">601282.0012</a>) substitution, and the other had a 6955C-T transition in exon 31, resulting in an arg2319-to-ter (R2319X; <a href="#0013">601282.0013</a>) substitution. Both stop codons abrogated, and the 1-bp duplication disrupted, the IF binding site, a beta-dystroglycan binding site, and an integrin beta-4 binding site. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10446808+21263134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012 EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY</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">rs387906801 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906801;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=rs387906801" 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=rs387906801" 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=RCV000023091" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023091" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023091</a>
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<p>For discussion of the gln2057-to-ter (Q2057X) mutation in the PLEC1 gene that was found in compound heterozygous state in a patient with epidermolysis bullosa simplex and muscular dystrophy (EBS5B; <a href="/entry/226670">226670</a>) by <a href="#18" class="mim-tip-reference" title="Selcen, D., Juel, V. C., Hobson-Webb, L. D., Smith, E. C., Stickler, D. E., Bite, A. V., Ohno, K., Engel, A. G. <strong>Myasthenic syndrome caused by plectinopathy.</strong> Neurology 76: 327-336, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21263134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21263134</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21263134[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31820882bd" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21263134">Selcen et al. (2011)</a>, see <a href="#0011">601282.0011</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21263134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0013 EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY</strong>
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EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE, 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> rs387906802 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906802;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/rs387906802?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=rs387906802" 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=rs387906802" 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=RCV000023092 OR RCV001007967 OR RCV001387924 OR RCV002273816" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023092, RCV001007967, RCV001387924, RCV002273816" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023092...</a>
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<p><strong><em>Epidermolysis Bullosa Simplex 5B, with Muscular Dystrophy</em></strong></p><p>
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For discussion of the arg2319-to-ter (R2319X) mutation in the PLEC1 gene that was found in compound heterozygous state in a patient with epidermolysis bullosa simplex and muscular dystrophy (EBS5B; <a href="/entry/226670">226670</a>) by <a href="#18" class="mim-tip-reference" title="Selcen, D., Juel, V. C., Hobson-Webb, L. D., Smith, E. C., Stickler, D. E., Bite, A. V., Ohno, K., Engel, A. G. <strong>Myasthenic syndrome caused by plectinopathy.</strong> Neurology 76: 327-336, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21263134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21263134</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21263134[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31820882bd" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21263134">Selcen et al. (2011)</a>, see <a href="#0011">601282.0011</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21263134" 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>Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive</em></strong></p><p>
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In a 31-year-old woman with generalized intermediate epidermolysis bullosa simplex and nail dystrophy (EBS5D; <a href="/entry/616487">616487</a>), <a href="#20" class="mim-tip-reference" title="Tu, W.-T., Chen, P.-C., Hou, P.-C., Huang, H.-Y., Wang, J.-Y., Chao, S.-C., Lee, J. Y., McGrath, J. A., Natsuga, K., Hsu, C.-K. <strong>Plectin missense mutation p.leu319pro in the pathogenesis of autosomal recessive epidermolysis bullosa simplex.</strong> Acta Derm. Venereol. 100: adv00242, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32725257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32725257</a>] [<a href="https://doi.org/10.2340/00015555-3600" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32725257">Tu et al. (2020)</a> identified compound heterozygosity for the R2319X mutation in the PLEC gene, and a c.956T-C transition (c.956T-C, NM_000445.5) in exon 9, resulting in a leu319-to-pro (L319P; <a href="#0015">601282.0015</a>) substitution. Her unaffected parents were each heterozygous for 1 of the mutations, and an unaffected brother did not carry either mutation. Electron microscopy of a skin biopsy from the proband revealed hypoplastic hemidesmosomes. Immunoblot of cell lysates of HEK293 cells cotransfected with wildtype ITGB4 (<a href="/entry/147557">147557</a>) and the L319P PLEC mutant showed reduced plectin and beta-4 integrin proteins, suggesting that the misassembled plectin/beta-4 integrin complex enhances protein degradation, resulting in defective hemidesmosome formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32725257" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0014 EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs374419983 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs374419983;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/rs374419983?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=rs374419983" 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=rs374419983" 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=RCV000186559 OR RCV001092984 OR RCV003338451" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000186559, RCV001092984, RCV003338451" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000186559...</a>
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<p>In 2 Turkish sisters with epidermolysis bullosa simplex and nail dystrophy (EBS5D; <a href="/entry/616487">616487</a>), born of consanguineous parents, <a href="#5" class="mim-tip-reference" title="Gostynska, K. B., Nijenhuis, M., Lemmink, H., Pas, H. H., Pasmooij, A. M. G., Lang, K. K., Castanon, M. J., Wiche, G., Jonkman, M. F. <strong>Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.</strong> Hum. Molec. Genet. 24: 3155-3162, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25712130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25712130</a>] [<a href="https://doi.org/10.1093/hmg/ddv066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25712130">Gostynska et al. (2015)</a> identified homozygosity for a c.46C-T transition in exon 1a of the PLEC1 gene, resulting in an arg16-to-ter (R16X) substitution present in only the 1a isoform. Quantitative RT-PCR of cultured skin keratinocytes from the sisters showed reduced transcription of 1a compared to controls. Because isoform-1a is not expressed in either striated or cardiac muscle tissue, <a href="#5" class="mim-tip-reference" title="Gostynska, K. B., Nijenhuis, M., Lemmink, H., Pas, H. H., Pasmooij, A. M. G., Lang, K. K., Castanon, M. J., Wiche, G., Jonkman, M. F. <strong>Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.</strong> Hum. Molec. Genet. 24: 3155-3162, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25712130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25712130</a>] [<a href="https://doi.org/10.1093/hmg/ddv066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25712130">Gostynska et al. (2015)</a> stated that they did not expect muscular dystrophy or cardiomyopathy to develop in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25712130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0015 EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</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">rs1319844752 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1319844752;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=rs1319844752" 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=rs1319844752" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the c.956T-C transition in exon 9 of the PLEC gene, resulting in a leu319-to-pro (L319P) substitution, that was found in compound heterozygous state in a 31-year-old woman with epidermolysis bullosa simplex and nail dystrophy (EBS5D; <a href="/entry/616487">616487</a>) by <a href="#20" class="mim-tip-reference" title="Tu, W.-T., Chen, P.-C., Hou, P.-C., Huang, H.-Y., Wang, J.-Y., Chao, S.-C., Lee, J. Y., McGrath, J. A., Natsuga, K., Hsu, C.-K. <strong>Plectin missense mutation p.leu319pro in the pathogenesis of autosomal recessive epidermolysis bullosa simplex.</strong> Acta Derm. Venereol. 100: adv00242, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32725257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32725257</a>] [<a href="https://doi.org/10.2340/00015555-3600" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32725257">Tu et al. (2020)</a>, see <a href="#0013">601282.0013</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32725257" 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 an 18-year-old man with EBS and nail dystrophy, <a href="#20" class="mim-tip-reference" title="Tu, W.-T., Chen, P.-C., Hou, P.-C., Huang, H.-Y., Wang, J.-Y., Chao, S.-C., Lee, J. Y., McGrath, J. A., Natsuga, K., Hsu, C.-K. <strong>Plectin missense mutation p.leu319pro in the pathogenesis of autosomal recessive epidermolysis bullosa simplex.</strong> Acta Derm. Venereol. 100: adv00242, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32725257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32725257</a>] [<a href="https://doi.org/10.2340/00015555-3600" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32725257">Tu et al. (2020)</a> identified compound heterozygosity for the L319P mutation and a c.2807G-A transition in exon 22 of the PLEC gene, resulting in a trp936-to-ter (W936X; <a href="#0016">601282.0016</a>) substitution. His unaffected father was heterozygous for the W936X mutation; DNA was unavailable from his unaffected mother. Electron microscopy of a skin biopsy from the proband revealed hypoplastic hemidesmosomes. Immunoblot of cell lysates of HEK293 cells cotransfected with wildtype ITGB4 (<a href="/entry/147557">147557</a>) and the L319P PLEC mutant showed reduced plectin and beta-4 integrin proteins, suggesting that the misassembled plectin/beta-4 integrin complex enhances protein degradation, resulting in defective hemidesmosome formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32725257" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0016 EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</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">rs2131745242 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2131745242;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=rs2131745242" 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=rs2131745242" 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=RCV002248370" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002248370" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002248370</a>
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<p>For discussion of the c.2807G-A transition (c.2807G-A, NM_000445.5) in exon 22 of the PLEC gene, resulting in a trp936-to-ter (W936X) substitution, that was found in compound heterozygous state in an 18-year-old man with epidermolysis bullosa simplex and nail dystrophy (EBS5D; <a href="/entry/616487">616487</a>) by <a href="#20" class="mim-tip-reference" title="Tu, W.-T., Chen, P.-C., Hou, P.-C., Huang, H.-Y., Wang, J.-Y., Chao, S.-C., Lee, J. Y., McGrath, J. A., Natsuga, K., Hsu, C.-K. <strong>Plectin missense mutation p.leu319pro in the pathogenesis of autosomal recessive epidermolysis bullosa simplex.</strong> Acta Derm. Venereol. 100: adv00242, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32725257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32725257</a>] [<a href="https://doi.org/10.2340/00015555-3600" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32725257">Tu et al. (2020)</a>, see <a href="#0013">601282.0013</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32725257" 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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Banwell, B. L., Russel, J., Fukudome, T., Shen, X. M., Stilling, G., Engel, A. G.
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<strong>Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency.</strong>
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J. Neuropath. Exp. Neurol. 58: 832-846, 1999.
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<a id="18" class="mim-anchor"></a>
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<a id="Selcen2011" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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|
Selcen, D., Juel, V. C., Hobson-Webb, L. D., Smith, E. C., Stickler, D. E., Bite, A. V., Ohno, K., Engel, A. G.
|
|
<strong>Myasthenic syndrome caused by plectinopathy.</strong>
|
|
Neurology 76: 327-336, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21263134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21263134</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21263134[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=21263134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1212/WNL.0b013e31820882bd" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Smith1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Smith, F. J. D., Eady, R. A. J., Leigh, I. M., McMillan, J. R., Rugg, E. L., Kelsell, D. P., Bryant, S. P., Spurr, N. K., Geddes, J. F., Kirtschig, G., Milana, G., de Bono, A. G., Owaribe, K., Wiche, G., Pulkkinen, L., Uitto, J., McLean, W. H. I., Lane, E. B.
|
|
<strong>Plectin deficiency results in muscular dystrophy with epidermolysis bullosa.</strong>
|
|
Nature Genet. 13: 450-457, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8696340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8696340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8696340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1038/ng0896-450" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Tu2020" class="mim-anchor"></a>
|
|
<div class="">
|
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<p class="mim-text-font">
|
|
Tu, W.-T., Chen, P.-C., Hou, P.-C., Huang, H.-Y., Wang, J.-Y., Chao, S.-C., Lee, J. Y., McGrath, J. A., Natsuga, K., Hsu, C.-K.
|
|
<strong>Plectin missense mutation p.leu319pro in the pathogenesis of autosomal recessive epidermolysis bullosa simplex.</strong>
|
|
Acta Derm. Venereol. 100: adv00242, 2020.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32725257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32725257</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32725257" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.2340/00015555-3600" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
|
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<a id="21" class="mim-anchor"></a>
|
|
<a id="Wiche1991" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Wiche, G., Becker, B., Luber, K., Weitzer, G., Castanon, M. J., Hauptmann, R., Stratowa, C., Stewart, M.
|
|
<strong>Cloning and sequencing of rat plectin indicates a 466-kD polypeptide chain with a three-domain structure based on a central alpha-helical coiled coil.</strong>
|
|
J. Cell Biol. 114: 83-99, 1991.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2050743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2050743</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2050743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1083/jcb.114.1.83" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Winter2015" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Winter, L., Kuznetsov, A. V., Grimm, M., Zeold, A., Fischer, I., Wiche, G.
|
|
<strong>Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle.</strong>
|
|
Hum. Molec. Genet. 24: 4530-4544, 2015.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26019234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26019234</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26019234[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=26019234" 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/ddv184" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="23" class="mim-anchor"></a>
|
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<a id="Zhang2004" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Zhang, T., Haws, P., Wu, Q.
|
|
<strong>Multiple variable first exons: a mechanism for cell- and tissue-specific gene regulation.</strong>
|
|
Genome Res. 14: 79-89, 2004.
|
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14672974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14672974</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14672974[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=14672974" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1101/gr.1225204" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Marla J. F. O'Neill - updated : 04/19/2022
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</span>
|
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</div>
|
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</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Patricia A. Hartz - updated : 9/23/2015<br>Marla J. F. O'Neill - updated : 7/27/2015<br>Cassandra L. Kniffin - updated : 3/10/2011<br>Cassandra L. Kniffin - updated : 2/8/2011<br>Cassandra L. Kniffin - updated : 4/8/2010<br>Cassandra L. Kniffin - updated : 7/2/2008<br>Patricia A. Hartz - updated : 8/31/2005<br>Patricia A. Hartz - updated : 10/7/2003<br>Gary A. Bellus - updated : 2/20/2003<br>Lori M. Kelman - updated : 11/13/1996<br>Moyra Smith - updated : 11/4/1996
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
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</span>
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</div>
|
|
<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 : 5/29/1996
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
alopez : 08/04/2022
|
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</span>
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</div>
|
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</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
alopez : 04/19/2022<br>alopez : 11/05/2021<br>alopez : 10/29/2021<br>carol : 09/25/2018<br>carol : 04/14/2016<br>carol : 1/8/2016<br>carol : 1/7/2016<br>mgross : 9/23/2015<br>alopez : 7/28/2015<br>alopez : 7/27/2015<br>mcolton : 7/27/2015<br>alopez : 5/26/2015<br>mcolton : 5/22/2015<br>carol : 9/16/2013<br>terry : 3/18/2011<br>wwang : 3/17/2011<br>ckniffin : 3/10/2011<br>wwang : 2/8/2011<br>ckniffin : 2/8/2011<br>wwang : 4/9/2010<br>ckniffin : 4/8/2010<br>wwang : 5/4/2009<br>carol : 7/7/2008<br>ckniffin : 7/2/2008<br>mgross : 9/1/2005<br>mgross : 8/31/2005<br>mgross : 10/7/2003<br>alopez : 2/20/2003<br>alopez : 2/20/2003<br>mark : 10/2/1997<br>mark : 7/1/1997<br>jamie : 2/5/1997<br>jamie : 11/13/1996<br>mark : 11/4/1996<br>mark : 8/7/1996<br>terry : 7/30/1996<br>terry : 6/21/1996<br>mark : 5/31/1996
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
|
<strong>*</strong> 601282
|
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</span>
|
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</h3>
|
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</div>
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|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
PLECTIN; PLEC
|
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|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
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</div>
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<div>
|
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<div >
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
PLEC1<br />
|
|
PCN; PLTN
|
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</span>
|
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</h4>
|
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</div>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: PLEC</em></strong>
|
|
</span>
|
|
</p>
|
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</div>
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|
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<div>
|
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<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 398071000, 716701004, 723308003, 726615005;
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 8q24.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 8:143,915,153-143,976,745 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="5">
|
|
<span class="mim-font">
|
|
8q24.3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
616487
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Epidermolysis bullosa simplex 5A, Ogna type
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
131950
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Epidermolysis bullosa simplex 5B, with muscular dystrophy
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
226670
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Epidermolysis bullosa simplex 5C, with pyloric atresia
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
612138
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Muscular dystrophy, limb-girdle, autosomal recessive 17
|
|
</span>
|
|
</td>
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<td>
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<span class="mim-font">
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613723
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The PLEC1 gene encodes plectin-1, a 500-kD intermediate filament-binding protein that is one of the largest polypeptides known. It was originally identified as a major component of intermediate filament preparations obtained from cultured cells (Pytela and Wiche, 1980). It is believed to provide mechanical strength to cells and tissues by acting as a crosslinking element of the cytoskeleton. </p>
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</span>
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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>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Liu et al. (1996) cloned and characterized the human plectin gene by screening a placenta cDNA library with previously published human plectin probes (Wiche et al., 1991) and probes derived from rat plectin. The deduced protein sequences for human and rat plectin are 93% identical. </p><p>McLean et al. (1996) also cloned and sequenced the PLEC1 gene. They showed that the predicted 518-kD polypeptide has homology to the actin-binding domain of the dystrophin family at the amino terminus, a central rod domain, and homology to the intermediate filament-associated protein desmoplakin at the carboxy terminus. </p><p>By RT-PCR, Kazerounian et al. (2002) surveyed the tissue distribution of several plakin family members, including periplakin (602871), plectin, desmoplakin (125647), BPAG1 (113810), and envoplakin (601590). Plectin was expressed in all adult and fetal tissues examined except leukocytes. Only a weak band was obtained from adult brain and thymus. </p><p>Natsuga et al. (2010) determined that human fibroblasts express 2 different plectin isoforms: a 500-kD full-length protein and a 390-kD protein lacking the rod domain. Immunoblot assays found that the quantitative ratio of full-length/rodless plectin was 14.2:1 in fibroblasts, 21.3:1 in keratinocytes, and 1.37:1 in skeletal muscle. </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>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Liu et al. (1996) determined that the coding sequence of the plectin gene contains 32 exons that extend over 32 kb of the human genome. Most of the introns reside within a region encoding the globular N-terminal domain of the molecule, whereas the entire central-rod domain and the entire C-terminal globular domain are encoded by single large exons of more than 3 kb and more than 6 kb, respectively. Overall, the organization of the human plectin gene is strikingly similar to that of human bullous pemphigoid antigen-1 (113810). </p><p>Zhang et al. (2004) identified 8 alternative first exons in the PLEC1 gene that are variably spliced to a common set of downstream constant exons. The coding regions of the alternative first exons are all in the same open reading frame. Almost all variable exons correspond to locations of CpG islands, suggesting that there are multiple promoters controlling PLEC1 gene expression. A similar pattern of alternative first exons spliced to constant downstream exons exists in the mouse and rat Plec1 genes. </p><p>Lesniewicz et al. (2005) determined that the 3-prime sequence of the mouse Parp10 gene (609564) overlaps on the same strand with the 5-prime sequence of the Plec1 gene. Exons 10 and 11 of the Parp10 gene, which encode the last 109 amino acids and the 3-prime UTR of Parp10, are spliced at different sites to form the untranslated exons -1 and 0a of a Plec1 splice variant. Lesniewicz et al. (2005) identified mouse ESTs containing sequences from both Parp10 and Plec1, but they did not find read-through transcripts. </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>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By fluorescence in situ hybridization, Liu et al. (1996) mapped the plectin gene to 8q24 in a region previously implicated in epidermolysis bullosa simplex of the Ogna type (EBSOG; 131950). </p><p>Gache et al. (1996) presented evidence that epidermolysis bullosa simplex with muscular dystrophy (EBSMD; 226670) is due to plectin deficiency. Independently and simultaneously, Smith et al. (1996) observed absence of plectin by antibody staining in affected individuals. EBSMD segregated with markers in the 8q24.13-qter region where the plectin gene is located. They used the rat plectin cDNA sequence to screen the GenBank database for homologous sequences and identified an expressed sequence tag, EST25263, which demonstrated 84% nucleotide homology and 94% protein homology with the 3-prime region of the rat plectin sequence. Using human-specific oligonucleotide primers designed from the sequence data, they screened a monochromosomal somatic cell hybrid panel by PCR amplification and assigned the gene to chromosome 8. Further localization to 8q24.13-qter was achieved using a panel of deletion-translocation hybrids, thus refining the data from fluorescence in situ hybridization analysis that localized the gene to 8q24 (Liu et al., 1996). </p><p>McLean et al. (1996) mapped the PLEC1 gene to 8q24. </p><p>Lesniewicz et al. (2005) mapped the mouse Plec1 gene to chromosome 15, immediately downstream of and in a head-to-tail orientation with the Parp10 gene. </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>Epidermolysis Bullosa Simplex 5B, with Muscular Dystrophy</em></strong></p><p>
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In affected members of a family with epidermolysis bullosa simplex with muscular dystrophy (EBS5B; 226670), Smith et al. (1996) identified a homozygous frameshift mutation in the plectin gene (601282.0001). They speculated that the absence of the large multifunctional cytoskeleton protein could account for structural failure in both muscle and skin. </p><p>Pulkkinen et al. (1996) reported ultrastructural studies and molecular genetic analysis of plectin in 2 probands from different families with EBSMD. In a proband and in her affected sister, they detected a homozygous 9-bp deletion mutation (601282.0002). The proband in the second family demonstrated a single nucleotide deletion (601282.0003) which resulted in a frameshift and a premature termination codon 16 bp downstream of the mutation. Based on ultrastructural studies Pulkkinen et al. (1996) concluded that plectin was critical for binding of the intermediate keratin filament network to hemidesmosomal complexes. They also postulated that plectin functioned in muscle as a putative attachment protein mediating binding of actin to membrane complexes. </p><p><strong><em>Epidermolysis Bullosa Simplex 5A, Ogna Type</em></strong></p><p>
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Koss-Harnes et al. (2002) found the same heterozygous missense mutation (601282.0005) in the original Norwegian family with epidermolysis bullosa simplex Ogna type (EBS5A; 131950) and in an unrelated German family. The authors concluded that these 2 mutations arose about 200 years apart. </p><p><strong><em>Epidermolysis Bullosa Simplex 5C, with Pyloric Atresia</em></strong></p><p>
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Pfendner and Uitto (2005) reported 4 consanguineous families in which at least 1 member had EBS with pyloric atresia (EBS5C; 612138). All patients had extensive blistering at birth with pyloric atresia, most had aplasia cutis, and all died from complications of the disorder shortly after birth. Molecular analysis confirmed homozygous mutations in the PLEC1 gene (see, e.g., 601282.0007 and 601282.0009). Pfendner and Uitto (2005) noted that 1 of the mutations deleted a region that may be important for plectin interaction with alpha-6 (ITGA6; 147556)/beta-4 (ITGB4; 147557) integrin, and that mutations in the latter genes result in the phenotypically similar junctional EB-PA (e.g., JEB5B, 226730). Thus, pyloric atresia in all of these patients is likely related to perturbed interactions between plectin and alpha-6/beta-4 integrin within attachment structures expressed during gastrointestinal development. </p><p><strong><em>Epidermolysis Bullosa Simplex 5D, With Nail Dystrophy</em></strong></p><p>
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In 2 Turkish sisters with epidermolysis bullosa simplex and nail dystrophy (EBS5D; 616487), Gostynska et al. (2015) identified homozygosity for a nonsense mutation (R16X; 601282.0014) present only in the 1a isoform of PLEC1. Because isoform-1a is not expressed in either striated or cardiac muscle tissue, the authors stated that they did not expect these patients to develop muscular dystrophy or cardiomyopathy. </p><p>In 2 unrelated patients with EBS and nail dystrophy, Tu et al. (2020) identified compound heterozygosity for a missense mutation (L319P; 601282.0015) and 2 different nonsense mutations: R2319X (601282.0013) in one patient and W936X (601282.0016) in the other. </p><p><strong><em>Autosomal Recessive Limb-Girdle Muscular Dystrophy 17</em></strong></p><p>
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Gundesli et al. (2010) identified a homozygous 9-bp deletion in exon 1f of the PLEC1 gene (601282.0010) in affected members of 3 Turkish families with autosomal recessive limb-girdle muscular dystrophy (LGMDR17; 613723), previously symbolized LGMD2Q, without skin involvement. The deletion was found to affect only the 1f isoform of plectin. Muscle biopsy from an affected individual showed significantly (100-fold) decreased expression of plectin isoform-1f mRNA and a 3-fold decrease of the plectin protein. Electron microscopic studies of patient muscle showed empty spaces between the sarcolemma and the contractile elements of the sarcomere, separation of membranes, loss of myofibrillar organization in some areas, and misalignment of the Z lines. These findings suggested that PLEC1 isoform-1f is a sarcolemma-associated protein with a specific role in skeletal muscle, and that lack of this isoform results in disruption of the myofiber without affecting other tissues. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Natsuga et al. (2010) examined plectin expression patterns in the skin of 3 patients with EBSPA and 6 with EBSMD, all of whom carried mutations in the PLEC1 gene. In EBSPA, expression of all plectin domains was found to be markedly attenuated or completely lost. In EBSMD, the expression of the N- and C-terminal domains of plectin remained detectable, although the expression of rod domains was absent or markedly reduced. The findings suggested that loss of the full-length plectin isoform with residual expression of the rodless plectin isoform leads to EBSMD, but that complete loss or marked attenuation of both the full-length and rodless plectin isoforms underlies the more severe EBSPA phenotype. In addition, the majority of EBSMD-associated PLEC1 mutations occurred within the large exon 31 that encodes the plectin rod domain. EBSPA-associated PLEC1 mutations were generally outside of exon 31. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Winter et al. (2015) noted that, in skeletal muscle, the 4 major plectin isoforms, which have distinct N termini, are required for the integrity of myofibers by targeting and anchoring desmin intermediate filaments to Z-disks (isoform-1d), costameres (isoform-1f), mitochondria (isoform-1b), and nuclear and sarcoplasmic reticulum membranes (isoform-1). Winter et al. (2015) found that striated muscle-specific knockdown of Plec1 in mice reduced mitochondrial content and respiratory capacity and altered mitochondrial morphology and position at Z-disk structures in heart and in soleus and gastrocnemius skeletal muscle. Defects in Plec1 -/- muscle increased with age, and gastrocnemius showed the most severe phenotype. Specific knockout of plectin isoform-1b caused severe mitochondrial dysfunction compared with knockout of isoform-1d, with decoupling of mitochondrial networks and mitochondrial enlargement, concomitant with upregulation of the mitochondrial fusion-associated protein Mfn2 (608507). </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>16 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY</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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PLEC, 8-BP DUP
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<br />
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SNP: rs786205251,
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ClinVar: RCV000008747
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with epidermolysis bullosa simplex with muscular dystrophy (EBS5B; 226670), Smith et al. (1996) found a homozygous 8-bp duplication mutation (insertion of the sequence GTGGAGGA) leading to a premature termination codon 14 bp downstream of the insertion. This frameshift mutation was predicted to cause premature termination of translation in the R2C subdomain of the plectin polypeptide within the rod domain predicted to be involved in polymerization. Smith et al. (1996) stated that such a genetic lesion is likely to cause loss of protein expression through nonsense-mediated decay of the predicted 15-kb plectin mRNA. The clinically unaffected parents were heterozygous for this mutation, consistent with the recessive inheritance of the disorder. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY</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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PLEC, 9-BP DEL, EX22
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<br />
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SNP: rs786205252,
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gnomAD: rs786205252,
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ClinVar: RCV000008748, RCV000274705, RCV001383874, RCV002247277
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 sisters with skin blistering since birth and onset of muscular dystrophy in the third decade (EBS5B; 226670), Pulkkinen et al. (1996) identified a homozygous 9-bp deletion at position 2719 (2719del9) of the plectin gene. The mutation results in a deletion of gln-glu-ala and loss of a BglI restriction site. The clinically unaffected parents were first cousins and the mother was shown to be heterozygous for the deletion. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY</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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PLEC, 1-BP DEL, 5866C
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<br />
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SNP: rs786205253,
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gnomAD: rs786205253,
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ClinVar: RCV000008749
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a woman with skin blistering and muscle weakness (EBS5B; 226670), Pulkkinen et al. (1996) identified a homozygous 1-bp deletion (5866delC) in the plectin gene. This frameshift creates a premature termination codon which predicts synthesis of a truncated plectin polypeptide and reduced mRNA expression. Both unaffected parents were deceased. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY</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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PLEC, 8-BP DEL, EX32
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<br />
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SNP: rs786205254,
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ClinVar: RCV000008750
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 24-year old Hispanic male with muscular dystrophy and epidermolysis bullosa simplex (EBS5B; 226670), McLean et al. (1996) identified a homozygous 8-bp deletion in exon 32 of the PLEC1 gene causing a frameshift and a premature termination codon 42 bp downstream. The clinically unaffected parents, who were first cousins, were found to be heterozygous carriers of the mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE</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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PLEC, ARG2110TRP
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<br />
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SNP: rs80338756,
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gnomAD: rs80338756,
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ClinVar: RCV000008751, RCV000519116, RCV001352838, RCV001381863
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In the original Norwegian family with autosomal dominant epidermolysis bullosa simplex Ogna type (EBS5A; 131950) reported by Gedde-Dahl (1971) and in a German family, Koss-Harnes et al. (2002) reported a heterozygous C-to-T transition in exon 31 of the PLEC1 gene resulting in an arg2110-to-trp (R2110W) substitution in the plectin polypeptide. </p><p>Has et al. (2020) reported this mutation as c.5998C-T, ARG2000TRP (R2000W). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA</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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PLEC, 14-BP DEL, NT2727
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<br />
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SNP: rs864309671,
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ClinVar: RCV000008752
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 3 sisters with epidermolysis bullosa simplex with pyloric atresia (EBS5C; 612138), born of consanguineous Turkish parents, Charlesworth et al. (2003) identified a homozygous 14-bp deletion at nucleotide 2727 in the PLEC1 gene. The deletion was predicted to result in an out-of-frame shift, premature termination, and disruption of the plakin globular domain. The mutation was not identified in 80 control chromosomes. The patients had a severe blistering disorder with onset in utero, aplasia cutis at birth, and evidence of pyloric atresia. All died within hours of birth or by termination of the pregnancy. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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|
</div>
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</div>
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|
<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
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|
PLEC, GLN305TER
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|
|
|
<br />
|
|
|
|
SNP: rs137853160,
|
|
|
|
|
|
|
|
ClinVar: RCV000008753
|
|
|
|
|
|
</span>
|
|
</div>
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|
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a patient with epidermolysis bullosa simplex with pyloric atresia (EBS5C; 612138), Nakamura et al. (2005) identified compound heterozygosity for 2 mutations in the PLEC1 gene: a 913C-T transition in exon 9 resulting in a gln305-to-ter (Q305X) substitution, and a 1344G-A transition at the 3-prime end of exon 12 resulting in abnormal splicing (601282.0008). The patient was born with widespread blisters and ulcers and died at age 16 months. An older brother was similarly affected. </p><p>In a Lebanese patient with lethal EBSPA, born of consanguineous parents, Pfendner and Uitto (2005) identified homozygosity for the Q305X mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0008 EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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PLEC, 1344G-A
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<br />
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|
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SNP: rs864309672,
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|
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gnomAD: rs864309672,
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|
|
ClinVar: RCV000008754
|
|
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|
|
</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the PLEC1 gene that was found in compound heterozygous state in a patient with epidermolysis bullosa simplex with pyloric atresia (EBS5C; 612138) by Nakamura et al. (2005), see 601282.0007. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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|
</div>
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|
</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
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|
|
|
PLEC, ARG3029TER
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|
<br />
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|
|
SNP: rs137853161,
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|
|
gnomAD: rs137853161,
|
|
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|
|
|
ClinVar: RCV000008755, RCV001851744
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a child with epidermolysis bullosa simplex with pyloric atresia (EBS5C; 612138), Pfendner and Uitto (2005) identified a homozygous C-to-T transition in exon 33 of the PLEC1 gene, resulting in an arg3029-to-ter (R3029X) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PLEC, 9-BP DEL, EXON 1F
|
|
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|
|
<br />
|
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|
|
SNP: rs864309673,
|
|
|
|
|
|
gnomAD: rs864309673,
|
|
|
|
|
|
ClinVar: RCV000023089, RCV001814009
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 3 unrelated consanguineous Turkish families with autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMDR17; 613723), Gundesli et al. (2010) identified a homozygous 9-bp deletion (1_9delATGGCCGGC) in exon 1f of the PLEC1 gene. The deletion included the initiation codon. Haplotype analysis indicated a founder effect. The phenotype was characterized by early childhood onset of proximal muscle weakness and atrophy, and, in 1 family, progression of the disorder in adolescence. There was no skin involvement. Muscle biopsy from an affected individual showed significantly (100-fold) decreased expression of plectin isoform-1f mRNA and a 3-fold decrease of the plectin protein. Examination of control skeletal muscle with antibodies against the rod domains of all plectin isoforms showed strong sarcoplasmic staining, but irregular and weak sarcolemmal staining of type 2 fibers, and only rare and faint staining for type 1 fibers. In patient muscle, there was no sarcolemmal staining of type 2 fibers. Electron microscopic studies of patient muscle showed empty spaces between the sarcolemma and the contractile elements of the sarcomere, separation of membranes, loss of myofibrillar organization in some areas, and misalignment of the Z lines. These findings suggested that isoform 1f is a sarcolemma-associated protein with a specific role in skeletal muscle, and that lack of this isoform results in disruption of the myofiber without affecting other tissues. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PLEC, 1-BP DUP, 12043G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs864309674,
|
|
|
|
|
|
|
|
ClinVar: RCV000023090
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated African American patients with epidermolysis bullosa simplex and muscular dystrophy (EBS5B; 226670) with myasthenic features, 1 of whom was previously reported by Banwell et al. (1999), Selcen et al. (2011) identified compound heterozygosity for 2 mutations in the PLEC1 gene: both patients carried a 1-bp duplication (12043dupG) in exon 32, predicted to result in frameshift and premature termination, and another pathogenic PLEC1 mutation. One patient had a 6169C-T transition in exon 31, resulting in a gln2057-to-ter (Q2057X; 601282.0012) substitution, and the other had a 6955C-T transition in exon 31, resulting in an arg2319-to-ter (R2319X; 601282.0013) substitution. Both stop codons abrogated, and the 1-bp duplication disrupted, the IF binding site, a beta-dystroglycan binding site, and an integrin beta-4 binding site. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PLEC, GLN2057TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906801,
|
|
|
|
|
|
|
|
ClinVar: RCV000023091
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the gln2057-to-ter (Q2057X) mutation in the PLEC1 gene that was found in compound heterozygous state in a patient with epidermolysis bullosa simplex and muscular dystrophy (EBS5B; 226670) by Selcen et al. (2011), see 601282.0011. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PLEC, ARG2319TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906802,
|
|
|
|
|
|
gnomAD: rs387906802,
|
|
|
|
|
|
ClinVar: RCV000023092, RCV001007967, RCV001387924, RCV002273816
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p />
|
|
<p><strong><em>Epidermolysis Bullosa Simplex 5B, with Muscular Dystrophy</em></strong></p><p>
|
|
For discussion of the arg2319-to-ter (R2319X) mutation in the PLEC1 gene that was found in compound heterozygous state in a patient with epidermolysis bullosa simplex and muscular dystrophy (EBS5B; 226670) by Selcen et al. (2011), see 601282.0011. </p><p><strong><em>Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive</em></strong></p><p>
|
|
In a 31-year-old woman with generalized intermediate epidermolysis bullosa simplex and nail dystrophy (EBS5D; 616487), Tu et al. (2020) identified compound heterozygosity for the R2319X mutation in the PLEC gene, and a c.956T-C transition (c.956T-C, NM_000445.5) in exon 9, resulting in a leu319-to-pro (L319P; 601282.0015) substitution. Her unaffected parents were each heterozygous for 1 of the mutations, and an unaffected brother did not carry either mutation. Electron microscopy of a skin biopsy from the proband revealed hypoplastic hemidesmosomes. Immunoblot of cell lysates of HEK293 cells cotransfected with wildtype ITGB4 (147557) and the L319P PLEC mutant showed reduced plectin and beta-4 integrin proteins, suggesting that the misassembled plectin/beta-4 integrin complex enhances protein degradation, resulting in defective hemidesmosome formation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PLEC, ARG16TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs374419983,
|
|
|
|
|
|
gnomAD: rs374419983,
|
|
|
|
|
|
ClinVar: RCV000186559, RCV001092984, RCV003338451
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Turkish sisters with epidermolysis bullosa simplex and nail dystrophy (EBS5D; 616487), born of consanguineous parents, Gostynska et al. (2015) identified homozygosity for a c.46C-T transition in exon 1a of the PLEC1 gene, resulting in an arg16-to-ter (R16X) substitution present in only the 1a isoform. Quantitative RT-PCR of cultured skin keratinocytes from the sisters showed reduced transcription of 1a compared to controls. Because isoform-1a is not expressed in either striated or cardiac muscle tissue, Gostynska et al. (2015) stated that they did not expect muscular dystrophy or cardiomyopathy to develop in these patients. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PLEC, LEU319PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1319844752,
|
|
|
|
|
|
|
|
ClinVar: RCV002248371
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.956T-C transition in exon 9 of the PLEC gene, resulting in a leu319-to-pro (L319P) substitution, that was found in compound heterozygous state in a 31-year-old woman with epidermolysis bullosa simplex and nail dystrophy (EBS5D; 616487) by Tu et al. (2020), see 601282.0013. </p><p>In an 18-year-old man with EBS and nail dystrophy, Tu et al. (2020) identified compound heterozygosity for the L319P mutation and a c.2807G-A transition in exon 22 of the PLEC gene, resulting in a trp936-to-ter (W936X; 601282.0016) substitution. His unaffected father was heterozygous for the W936X mutation; DNA was unavailable from his unaffected mother. Electron microscopy of a skin biopsy from the proband revealed hypoplastic hemidesmosomes. Immunoblot of cell lysates of HEK293 cells cotransfected with wildtype ITGB4 (147557) and the L319P PLEC mutant showed reduced plectin and beta-4 integrin proteins, suggesting that the misassembled plectin/beta-4 integrin complex enhances protein degradation, resulting in defective hemidesmosome formation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PLEC, TRP936TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2131745242,
|
|
|
|
|
|
|
|
ClinVar: RCV002248370
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.2807G-A transition (c.2807G-A, NM_000445.5) in exon 22 of the PLEC gene, resulting in a trp936-to-ter (W936X) substitution, that was found in compound heterozygous state in an 18-year-old man with epidermolysis bullosa simplex and nail dystrophy (EBS5D; 616487) by Tu et al. (2020), see 601282.0013. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</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">
|
|
Banwell, B. L., Russel, J., Fukudome, T., Shen, X. M., Stilling, G., Engel, A. G.
|
|
<strong>Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency.</strong>
|
|
J. Neuropath. Exp. Neurol. 58: 832-846, 1999.
|
|
|
|
|
|
[PubMed: 10446808]
|
|
|
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|
|
[Full Text: https://doi.org/10.1097/00005072-199908000-00006]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Charlesworth, A., Gagnoux-Palacios, L., Bonduelle, M., Ortonne, J.- P., De Raeve, L., Meneguzzi, G.
|
|
<strong>Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin.</strong>
|
|
J. Invest. Derm. 121: 1344-1348, 2003.
|
|
|
|
|
|
[PubMed: 14675180]
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|
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|
|
[Full Text: https://doi.org/10.1111/j.1523-1747.2003.12639.x]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gache, Y., Chavanas, S., Lacour, J. P., Wiche, G., Owaribe, K., Meneguzzi, G., Ortonne, J. P.
|
|
<strong>Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy.</strong>
|
|
J. Clin. Invest. 97: 2289-2298, 1996.
|
|
|
|
|
|
[PubMed: 8636409]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI118671]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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