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Entry
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- *113810 - DYSTONIN; DST
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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">*113810</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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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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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 role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/113810">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li 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=ENSG00000151914;t=ENST00000680361" 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=667" 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=113810" 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=ENSG00000151914;t=ENST00000680361" 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_001144769,NM_001144770,NM_001374722,NM_001374729,NM_001374730,NM_001374734,NM_001374736,NM_001386100,NM_001723,NM_015548,NM_183380" 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_001374736" 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=113810" 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=00222&isoform_id=00222_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/DST" 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/36095,178695,179519,403124,451557,451558,1049104,1049106,4502443,5732908,9789027,10437601,14530942,14530944,16549862,16877484,18157651,18157653,20521141,21754039,21756268,30704862,34577047,34577049,38197267,41350836,119624861,119624862,119624863,119624864,119624865,119624866,119624867,119624868,119624869,119624870,119624871,119624872,194378382,194389560,221041060,221316618,221316622,294862529,444739137,1761000852,1761000869,1761000876,1761000884,1761000896,1886430508" 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/Q03001" 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=667" 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=ENSG00000151914;t=ENST00000680361" 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=DST" 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=DST" 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+667" 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/DST" 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:667" 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/667" 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=chr6&hgg_gene=ENST00000680361.1&hgg_start=56457996&hgg_end=56954830&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:1090" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=113810[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=113810[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/DST/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/ENSG00000151914" 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=DST" 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=DST" 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=DST" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=DST&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/PA25399" 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:1090" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0013733.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:104627" 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/DST#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:104627" 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/667/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://omia.org/OMIA001183/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=667" 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://wormbase.org/db/gene/gene?name=WBGene00006876;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-3399" 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">
|
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<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://reactome.org/content/query?q=DST&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1279838005<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>
|
|
113810
|
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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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DYSTONIN; DST
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
DYSTONIA MUSCULORUM, MOUSE, HOMOLOG OF; DMH; DT<br />
|
|
BULLOUS PEMPHIGOID ANTIGEN 1; BPAG1<br />
|
|
BP230<br />
|
|
BP240
|
|
</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>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=DST" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DST</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/6/611?start=-3&limit=10&highlight=611">6p12.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:56457996-56954830&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'})">6:56,457,996-56,954,830</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</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=615425,614653" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/6/611?start=-3&limit=10&highlight=611">
|
|
6p12.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/615425"> 615425 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
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|
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</tr>
|
|
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Neuropathy, hereditary sensory and autonomic, type VI
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614653"> 614653 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<p>The DST gene encodes dystonin, a large protein that is a member of the plakin family of proteins, which bridge the cytoskeletal filament networks. Different DST transcripts are expressed in the central nervous system, muscle, and skin (summary by <a href="#6" class="mim-tip-reference" title="Edvardson, S., Cinnamon, Y., Jalas, C., Shaag, A., Maayan, C., Axelrod, F. B., Elpeleg, O. <strong>Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.</strong> Ann. Neurol. 71: 569-572, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22522446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22522446</a>] [<a href="https://doi.org/10.1002/ana.23524" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22522446">Edvardson et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22522446" 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>One of the components of the basement membrane zone of the skin is a 230- to 240-kD glycoprotein that serves as an autoantigen in the blistering disease bullous pemphigoid. <a href="#21" class="mim-tip-reference" title="Stanley, J. R., Tanaka, T., Mueller, S., Klaus-Kovtun, V., Roop, D. <strong>Isolation of complementary DNA for bullous pemphigoid antigen by use of patients' autoantibodies.</strong> J. Clin. Invest. 82: 1864-1870, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2461961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2461961</a>] [<a href="https://doi.org/10.1172/JCI113803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2461961">Stanley et al. (1988)</a> isolated a 2.2-kb cDNA coding for the C-terminal region of the bullous pemphigoid antigen by immunoscreening a human epidermal keratinocyte cDNA library. <a href="#20" class="mim-tip-reference" title="Sawamura, D., Nomura, K., Sugita, Y., Mattei, M.-G., Chu, M.-L., Knowlton, R., Uitto, J. <strong>Bullous pemphigoid antigen (BPAG1): cDNA cloning and mapping of the gene to the short arm of human chromosome 6.</strong> Genomics 8: 722-726, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2276744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2276744</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90261-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2276744">Sawamura et al. (1990)</a> isolated cDNAs coding for human BPAG1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2276744+2461961" 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>Dystonia musculorum (dt) is a hereditary neurodegenerative disease in mice that leads to sensory ataxia (see ANIMAL MODEL). <a href="#1" class="mim-tip-reference" title="Brown, A., Bernier, G., Mathieu, M., Rossant, J., Kothary, R. <strong>The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1.</strong> Nature Genet. 10: 301-306, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7670468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7670468</a>] [<a href="https://doi.org/10.1038/ng0795-301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7670468">Brown et al. (1995)</a> cloned a candidate gene for mouse dt, called dystonin, that was predominantly expressed in the dorsal root ganglia and other sites of neurodegeneration in dt mice. They showed that the dystonin gene encodes an N-terminal actin-binding domain and a C-terminal portion composed of the bullous pemphigoid antigen-1 protein; dystonin and Bpag1 are part of the same transcription unit. In mice, dystonin cDNAs occur as at least 2 neural isoforms generated by alternative splicing of exons at the 5-prime end of the gene. These cDNAs contain N-terminal domains with significant sequence similarity to the actin-binding motifs of dystrophin (<a href="/entry/300377">300377</a>), alpha-actinin (<a href="/entry/102575">102575</a> and <a href="/entry/102573">102573</a>), and beta-spectrin (<a href="/entry/182870">182870</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7670468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using the 5-prime portion of mouse dystonin to screen a retina cDNA library, followed by screening a fetal brain cDNA library, <a href="#2" class="mim-tip-reference" title="Brown, A., Dalpe, G., Mathieu, M., Kothary, R. <strong>Cloning and characterization of the neural isoforms of human dystonin.</strong> Genomics 29: 777-780, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8575775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8575775</a>] [<a href="https://doi.org/10.1006/geno.1995.9936" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8575775">Brown et al. (1995)</a> cloned the 5-prime neural-specific exons of 2 human dystonin variants, which splice to the previously cloned BPAG1 coding region. These variants differ at their 5-prime ends, but both encode proteins with N-terminal actin-binding domains. The N-terminal portions of the 2 human dystrophin isoforms share more than 96% identity with the corresponding regions of their mouse homologs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8575775" 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="Yang, Y., Bauer, C., Strasser, G., Wollman, R., Julien, J.-P., Fuchs, E. <strong>Integrators of the cytoskeleton that stabilize microtubules.</strong> Cell 98: 229-238, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10428034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10428034</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81017-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10428034">Yang et al. (1999)</a> noted that the human BPAG1 gene encodes 2 neuronal splice variants, BPAG1n1 and BPAG1n2, which encode proteins containing an N-terminal actin-binding domain, and an epidermal splice variant, BPAG1e, which encodes a protein lacking the N-terminal actin-binding domain. They cloned a third human BPAG1 neural splice variant, BPAG1n3, that encodes a protein lacking the actin-binding domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10428034" 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="Leung, C. L., Zheng, M., Prater, S. M., Liem, R. K. H. <strong>The BPAG1 locus: alternative splicing produces multiple isoforms with distinct cytoskeletal linker domains, including predominant isoforms in neurons and muscles.</strong> J. Cell Biol. 154: 691-697, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11514586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11514586</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11514586[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/10.1083/jcb.200012098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11514586">Leung et al. (2001)</a> identified 4 splice variants of mouse Bpag1. They encode proteins that vary in size from 2,611 to 7,169 amino acids and differ in their domain organization. These domains include an N-terminal actin-binding domain, a plakin domain, a coiled-coil rod domain, 2 different intermediate filament-binding domains, a long spectrin repeat, and a C-terminal microtubule-binding domain. Northern blot analysis of mouse tissues revealed tissue-specific expression of the Bpag1 variants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11514586" 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 and genomic sequence analysis, <a href="#19" class="mim-tip-reference" title="Okumura, M., Yamakawa, H., Ohara, O., Owaribe, K. <strong>Novel alternative splicings of BPAG1 (bullous pemphigoid antigen 1) including the domain structure closely related to MACF (microtubule actin cross-linking factor).</strong> J. Biol. Chem. 277: 6682-6687, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11751855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11751855</a>] [<a href="https://doi.org/10.1074/jbc.M109209200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11751855">Okumura et al. (2002)</a> identified several novel human BPAG1 variants encoding proteins of 1,740 to 5,172 amino acids with distinct domain structures. Northern blot analysis of human tissues using probes corresponding to specific BPAG1 domains detected multiple BPAG1 transcripts that were expressed in a tissue-specific manner. Overall, BPAG1 expression was highest in skeletal muscle and cultured keratinocytes. Immunofluorescence microscopy using antibodies against specific BPAG1 domains revealed that BPAG1 isoforms containing the plakin domain, rod domain, or C-terminal globular domain were expressed in the basement membrane zone of human skin, where hemidesmosomes localize. Epithelial cells were also stained with the anti-plakin domain antibody. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11751855" 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="#11" 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 (<a href="/entry/601282">601282</a>), desmoplakin (<a href="/entry/125647">125647</a>), epidermal BPAG1, and envoplakin (<a href="/entry/601590">601590</a>). The epidermal BPAG1 variant was the only plakin family member that showed strict keratinocyte expression. <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="#13" class="mim-tip-reference" title="Liu, J.-J., Ding, J., Kowal, A. S., Nardine, T., Allen, E., Delcroix, J.-D., Wu, C., Mobley, W., Fuchs, E., Yang, Y. <strong>BPAG1n4 is essential for retrograde axonal transport in sensory neurons.</strong> J. Cell Biol. 163: 223-229, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14581450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14581450</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14581450[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/10.1083/jcb.200306075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14581450">Liu et al. (2003)</a> identified a novel neuronal-specific human BPAG1 isoform, BPAG1n4. Unlike the other 3 neuronal isoforms, which differ only in their N termini, BPAG1n4 also differs at its C terminus. Instead of the rod and intermediate filament-binding domains, BPAG1n4 has a central ezrin (VIL2; <a href="/entry/123900">123900</a>)-radixin (RDX; <a href="/entry/179410">179410</a>)-moesin (MSN; <a href="/entry/309845">309845</a>) (ERM) domain and a C-terminal EF-hand Ca(2+)-binding motif immediately upstream of a GAS2 (<a href="/entry/602835">602835</a>) motif. Immunohistochemical analysis localized mouse Bpag1n4 to vesicle-like structures associated with microtubules in sensory neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14581450" 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="Tamai, K., Sawamura, D., Do, H. C., Tamai, Y., Li, K., Uitto, J. <strong>The human 230-kD bullous pemphigoid antigen gene (BPAG1): exon-intron organization and identification of regulatory tissue specific elements in the promoter region.</strong> J. Clin. Invest. 92: 814-822, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8349819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8349819</a>] [<a href="https://doi.org/10.1172/JCI116655" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8349819">Tamai et al. (1993)</a> showed that the BPAG1 gene has a coding sequence of approximately 9 kb and contains 22 exons varying from 78 to 2,810 bp. The 5-prime region, upstream from the ATG translation initiation codon, contains several putative transcriptional response elements, including 2 motifs potentially conferring keratinocyte-specific expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8349819" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Okumura, M., Yamakawa, H., Ohara, O., Owaribe, K. <strong>Novel alternative splicings of BPAG1 (bullous pemphigoid antigen 1) including the domain structure closely related to MACF (microtubule actin cross-linking factor).</strong> J. Biol. Chem. 277: 6682-6687, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11751855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11751855</a>] [<a href="https://doi.org/10.1074/jbc.M109209200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11751855">Okumura et al. (2002)</a> reported that the BPAG1 gene contains 48 exons. Exons 1 through 6 are specific to BPAG1n variants, and exon 7 is specific to BPAG1e variants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11751855" 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 chromosomal in situ hybridization, <a href="#20" class="mim-tip-reference" title="Sawamura, D., Nomura, K., Sugita, Y., Mattei, M.-G., Chu, M.-L., Knowlton, R., Uitto, J. <strong>Bullous pemphigoid antigen (BPAG1): cDNA cloning and mapping of the gene to the short arm of human chromosome 6.</strong> Genomics 8: 722-726, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2276744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2276744</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90261-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2276744">Sawamura et al. (1990)</a> mapped the BPAG1 gene to chromosome 6p12-p11. The assignment was supported by Southern analysis of hybrid cell DNAs. <a href="#17" class="mim-tip-reference" title="Minoshima, S., Amagai, M., Kudoh, J., Fukuyama, R., Hashimoto, T., Nishikawa, T., Shimizu, N. <strong>Localization of the human gene for 230-kDa bullous pemphigoid autoantigen to the pter-q15 region of chromosome 6. (Abstract)</strong> Cytogenet. Cell Genet. 58: 1914-1915, 1991."None>Minoshima et al. (1991)</a> likewise assigned the BPAG1 gene to 6p using spot-blot hybridization of flow-sorted chromosomes. <a href="#18" class="mim-tip-reference" title="Minoshima, S., Amagai, M., Kudoh, J., Fukuyama, R., Hashimoto, T., Nishikawa, T., Shimizu, N. <strong>Localization of the human gene for 230-kDal bullous pemphigoid autoantigen (BPAG1) to chromosome 6pter-q15.</strong> Cytogenet. Cell Genet. 57: 30-32, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1855390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1855390</a>] [<a href="https://doi.org/10.1159/000133108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1855390">Minoshima et al. (1991)</a> also studied cells carrying a reciprocal translocation t(6;16)(q15;q24) which permitted localization of the BPAG1 gene to 6pter-q15. <a href="#4" class="mim-tip-reference" title="Copeland, N. G., Gilbert, D. J., Li, K., Sawamura, D., Giudice, G. J., Chu, M.-L., Jenkins, N. A., Uitto, J. <strong>Chromosomal localization of mouse bullous pemphigoid antigens, BPAG1 and BPAG2: identification of a new region of homology between mouse and human chromosomes.</strong> Genomics 15: 180-181, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8432531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8432531</a>] [<a href="https://doi.org/10.1006/geno.1993.1027" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8432531">Copeland et al. (1993)</a> demonstrated that the homologous murine gene, Bpag1, is located in the proximal region of chromosome 1, thus identifying a new region of homology between human chromosome 6 and mouse chromosome 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2276744+1855390+8432531" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Brown, A., Lemieux, N., Rossant, J., Kothary, R. <strong>Human homolog of a mouse sequence from the dystonia musculorum locus is on chromosome 6p12.</strong> Mammalian Genome 5: 434-437, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7919656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7919656</a>] [<a href="https://doi.org/10.1007/BF00357004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7919656">Brown et al. (1994)</a> mapped the DST gene to chromosome 6p12 by FISH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7919656" 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="Tamai, K., Sawamura, D., Do, H. C., Tamai, Y., Li, K., Uitto, J. <strong>The human 230-kD bullous pemphigoid antigen gene (BPAG1): exon-intron organization and identification of regulatory tissue specific elements in the promoter region.</strong> J. Clin. Invest. 92: 814-822, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8349819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8349819</a>] [<a href="https://doi.org/10.1172/JCI116655" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8349819">Tamai et al. (1993)</a> identified 2 motifs in the 5-prime region of BPAG1 that potentially confer keratinocyte-specific expression to the gene. The presence of such elements was suggested by an approximately 20-fold higher expression of a promoter/chloramphenicol acetyltransferase (CAT) construct in normal human epidermal keratinocytes that expressed the endogenous gene, as compared to several nonexpressing cell types. Transient transfections with 5-prime deletion clones of the promoter/reporter gene constructs identified a region containing a putative tissue-specific element, KRE2, which also conferred tissue specificity to the expression of the truncated promoter downstream from this element; however, a mutated derivative of KRE2 was not functional. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8349819" 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>Sensory neurodegeneration occurs in mice defective in Bpag1, a gene encoding cytoskeletal linker proteins capable of anchoring neuronal intermediate filaments to actin cytoskeleton. While Bpag1-null mice fail to anchor neurofilaments (NFs), Bpag1/NF-null mice still degenerate in the absence of NFs. <a href="#23" class="mim-tip-reference" title="Yang, Y., Bauer, C., Strasser, G., Wollman, R., Julien, J.-P., Fuchs, E. <strong>Integrators of the cytoskeleton that stabilize microtubules.</strong> Cell 98: 229-238, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10428034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10428034</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81017-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10428034">Yang et al. (1999)</a> found that BPAG1n3, the BPAG1 neural splice form lacking the actin-binding domain, bound and stabilized microtubules. This interaction was functionally important; in mice and in vitro, neurons lacking BPAG1 displayed short, disorganized, and unstable microtubules defective in axonal transport. BPAG1 neural isoforms represent microtubule-associated proteins that when absent lead to devastating consequences. Moreover, BPAG1 can functionally account for the extraordinary stability of axonal microtubules necessary for transport over long distances. Its isoforms interconnect all 3 cytoskeletal networks, a feature apparently central to neuronal survival. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10428034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using yeast 2-hybrid analysis, blot overlay binding assays, and coimmunoprecipitation analysis, <a href="#13" class="mim-tip-reference" title="Liu, J.-J., Ding, J., Kowal, A. S., Nardine, T., Allen, E., Delcroix, J.-D., Wu, C., Mobley, W., Fuchs, E., Yang, Y. <strong>BPAG1n4 is essential for retrograde axonal transport in sensory neurons.</strong> J. Cell Biol. 163: 223-229, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14581450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14581450</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14581450[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/10.1083/jcb.200306075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14581450">Liu et al. (2003)</a> showed that BPAG1n4 interacted directly with dynactin-1 (DCTN1; <a href="/entry/601143">601143</a>) through its ERM domain. Furthermore, Bpag1n4 colocalized with the dynactin/dynein (see DYNC1H1; <a href="/entry/600112">600112</a>) complex in mouse sensory axons. Disruption of the interaction between Bpag1n4 and Dctn1 resulted in severe defects in retrograde axonal transport. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14581450" 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="Liu, J.-J., Ding, J., Wu, C., Bhagavatula, P., Cui, B., Chu, S., Mobley, W. C., Yang, Y. <strong>Retrolinkin, a membrane protein, plays an important role in retrograde axonal transport.</strong> Proc. Nat. Acad. Sci. 104: 2223-2228, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17287360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17287360</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17287360[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0602222104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17287360">Liu et al. (2007)</a> found that an endosomal vesicle protein, retrolinkin, functioned as a receptor tethering vesicles to dynein/dynactin through BPAG1n4. Retrolinkin bound directly to BPAG1n4, and deletion of retrolinkin membrane-associated domains disrupted retrograde vesicular transport in mouse neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17287360" 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>Hereditary Sensory and Autonomic Neuropathy Type VI</em></strong></p><p>
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By homozygosity mapping followed by whole-exome sequencing in an Ashkenazi Jewish family with severe hereditary sensory and autonomic neuropathy type VI (HSAN6; <a href="/entry/614653">614653</a>), <a href="#6" class="mim-tip-reference" title="Edvardson, S., Cinnamon, Y., Jalas, C., Shaag, A., Maayan, C., Axelrod, F. B., Elpeleg, O. <strong>Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.</strong> Ann. Neurol. 71: 569-572, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22522446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22522446</a>] [<a href="https://doi.org/10.1002/ana.23524" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22522446">Edvardson et al. (2012)</a> identified a homozygous truncating mutation in the DST gene (<a href="#0001">113810.0001</a>). The phenotype was characterized by neonatal onset of hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection. All 3 patients died by age 2 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22522446" 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 3 members of an Italian family with an adult form of HSAN6, <a href="#7" class="mim-tip-reference" title="Fortugno, P., Angelucci, F., Cestra, G., Camerota, L., Ferraro, A. S., Cordisco, S., Uccioli, L., Castiglia, D., De Angelis, B., Kurth, I., Kornak, U., Brancati, F. <strong>Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.</strong> Hum. Mutat. 40: 106-114, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30371979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30371979</a>] [<a href="https://doi.org/10.1002/humu.23678" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30371979">Fortugno et al. (2019)</a> identified novel compound heterozygous mutations in the DST gene: a nonsense mutation (K4330X; <a href="#0004">113810.0004</a>) and a missense mutation (A203E; <a href="#0005">113810.0005</a>) affecting a highly conserved residue in an isoform-specific N-terminal region of the dystonin protein. The mutations were found by whole-exome sequencing and confirmed by Sanger sequencing. Patient cells demonstrated defects in actin cytoskeleton organization and delayed cell adhesion, spreading, and migration, and the A203E missense mutation was shown to disrupt dystonin binding to actin. Affected individuals were seen in their fifties to seventies with ulcerations of the feet, painless fractures, amputations of the toes, and joint deformities. The authors proposed that homozygous truncating mutations result in a severe disorder with congenital defects and early lethality, whereas compound heterozygosity for a truncating and a missense mutation partially maintains dystonin protein expression and function and thus causes neuropathy that is compatible with an adult onset of disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30371979" 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 3 adult brothers, born to healthy nonconsanguineous Italian parents, with HSAN-VI, <a href="#16" class="mim-tip-reference" title="Manganelli, F., Parisi, S., Nolano, M., Tao, F., Paladino, S., Pisciotta, C., Tozza, S., Nesti, C., Rebelo, A. P. Provitera, V., Santorelli, F. M., Shy, M. E., Russo, T., Zuchner, S., Santoro, L. <strong>Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.</strong> Neurology 88: 2132-2140, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28468842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28468842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28468842[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.0000000000003992" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28468842">Manganelli et al. (2017)</a> identified compound heterozygosity for 2 mutations in the DST gene (<a href="#0008">113810.0008</a>-<a href="#0009">113810.0009</a>) affecting only neuronal isoform-a2. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the phenotype in the family. Levels of the DST protein were absent or very low in neurons derived from induced pluripotent stem cells of the patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28468842" 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 Epidermolysis Bullosa Simplex 3</em></strong></p><p>
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In a Kuwaiti man with autosomal recessive epidermolysis bullosa simplex-3 with BP230 deficiency (EBS3; <a href="/entry/615425">615425</a>), <a href="#9" class="mim-tip-reference" title="Groves, R. W., Liu, L., Dopping-Hepenstal, P. J., Markus, H. S., Lovell, P. A., Ozoemena, L., Lai-Cheong, J. E., Gawler, J., Owaribe, K., Hashimoto, T., Mellerio, J. E., Mee, J. B., McGrath, J. A. <strong>A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.</strong> J. Invest. Derm. 130: 1551-1557, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20164846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20164846</a>] [<a href="https://doi.org/10.1038/jid.2010.19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20164846">Groves et al. (2010)</a> identified a homozygous truncating mutation in the DST gene (Q1124X; <a href="#0002">113810.0002</a>). The mutation was not found in 200 ethnically matched chromosomes. RT-PCR showed an approximately 25% decrease in gene expression in the 3-prime untranslated region with only slight reduction in expression for other gene regions. The coiled-coil domain is exclusively expressed in the BPAG1-e and BPAG1-n isoforms, which are expressed in the skin and nervous system, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20164846" 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 34-year-old Iranian woman from a consanguineous family with epidermolysis bullosa simplex, <a href="#15" class="mim-tip-reference" title="Liu, L., Dopping-Hepenstal, P. J., Lovell, P. A., Michael, M., Horn, H., Fong, K., Lai-Cheong, J. E., Mellerio, J. E., Parsons, M., McGrath, J. A. <strong>Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. (Letter)</strong> J. Invest. Derm. 132: 742-744, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22113475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22113475</a>] [<a href="https://doi.org/10.1038/jid.2011.379" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22113475">Liu et al. (2012)</a> identified a homozygous truncating mutation in the DST gene (R1249X; <a href="#0003">113810.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22113475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 3 families with EBS, <a href="#8" class="mim-tip-reference" title="Ganani, D., Malovitski, K., Sarig, O., Gat, A., Sprecher, E., Samuelov, L. <strong>Epidermolysis bullosa simplex due to bi-allelic DST mutations: case series and review of the literature.</strong> Pediat. Derm. 38: 436-441, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33471381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33471381</a>] [<a href="https://doi.org/10.1111/pde.14477" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33471381">Ganani et al. (2021)</a> identified biallelic mutations in the DST gene: homozygosity for the previously reported Q1124X mutation in 2 sisters of Iraqi descent, homozygosity for a 1-bp duplication (<a href="#0006">113810.0006</a>) in an 8-year-old boy of Indian origin, and compound heterozygosity for the same 1-bp duplication and a 1-bp deletion (<a href="#0007">113810.0007</a>) in a brother and sister of Indian origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33471381" 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>BPAG1 is made by stratified squamous epithelia, where it localizes to the inner surface of specialized integrin-mediated adherens junctions (hemidesmosomes). <a href="#10" class="mim-tip-reference" title="Guo, L., Degenstein, L., Dowling, J., Yu, Q.-C., Wollmann, R., Perman, B., Fuchs, E. <strong>Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration.</strong> Cell 81: 233-243, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7736575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7736575</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90333-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7736575">Guo et al. (1995)</a> explored the function of BPAG1 and its relationship to bullous pemphigoid by targeting the knockout of the Bpag1 gene in mice. Hemidesmosomes were otherwise normal but they lacked the inner plate and had no cytoskeleton attached. Though not affecting cell growth or adhesion to substrate, this change compromised mechanical integrity and influenced migration. Unexpectedly, the mice also developed severe dystonia and sensory nerve degeneration typical of homozygous dystonia musculorum (dt/dt) mice. <a href="#10" class="mim-tip-reference" title="Guo, L., Degenstein, L., Dowling, J., Yu, Q.-C., Wollmann, R., Perman, B., Fuchs, E. <strong>Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration.</strong> Cell 81: 233-243, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7736575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7736575</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90333-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7736575">Guo et al. (1995)</a> showed that the Bpag1 gene is defective in at least 1 strain of mice with spontaneous homozygous dystonia musculorum. <a href="#10" class="mim-tip-reference" title="Guo, L., Degenstein, L., Dowling, J., Yu, Q.-C., Wollmann, R., Perman, B., Fuchs, E. <strong>Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration.</strong> Cell 81: 233-243, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7736575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7736575</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90333-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7736575">Guo et al. (1995)</a> presented evidence that the dt/dt locus on mouse chromosome 1 is the same as the Bpag1 locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7736575" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Brown, A., Bernier, G., Mathieu, M., Rossant, J., Kothary, R. <strong>The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1.</strong> Nature Genet. 10: 301-306, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7670468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7670468</a>] [<a href="https://doi.org/10.1038/ng0795-301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7670468">Brown et al. (1995)</a> found that the dystonin transcription unit was partially deleted in a transgenic strain of mice harboring an insertion mutation at the dt locus and in mice carrying a spontaneous dt mutation. They also demonstrated abnormal dystonin transcripts in a second dt mutant. <a href="#1" class="mim-tip-reference" title="Brown, A., Bernier, G., Mathieu, M., Rossant, J., Kothary, R. <strong>The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1.</strong> Nature Genet. 10: 301-306, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7670468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7670468</a>] [<a href="https://doi.org/10.1038/ng0795-301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7670468">Brown et al. (1995)</a> concluded that mutations in the dystonin gene are the primary genetic lesion in dt mice. They proposed that mutations in dystonin lead to neurodegeneration due to disruption of actin or neurofilament networks. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7670468" 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>.0001 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI</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> rs398122819 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122819;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/rs398122819?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=rs398122819" 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=rs398122819" 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=RCV000024316 OR RCV001552535" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024316, RCV001552535" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024316...</a>
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<p>In affected members of a large consanguineous Ashkenazi Jewish family with hereditary sensory and autonomic neuropathy type VI (HSAN6; <a href="/entry/614653">614653</a>), <a href="#6" class="mim-tip-reference" title="Edvardson, S., Cinnamon, Y., Jalas, C., Shaag, A., Maayan, C., Axelrod, F. B., Elpeleg, O. <strong>Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.</strong> Ann. Neurol. 71: 569-572, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22522446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22522446</a>] [<a href="https://doi.org/10.1002/ana.23524" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22522446">Edvardson et al. (2012)</a> identified a homozygous 1-bp deletion (14865delA) in the DST gene, resulting in a frameshift that starts at glu4955 and a premature termination predicted to lead to the loss of the C-terminal 502 amino acids. The mutation affected only the neuronal- and muscle-specific DST isoforms. The deletion was not found in 1,151 control individuals. The mutation was identified by homozygosity mapping followed by exome sequencing and was confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22522446" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000056254 OR RCV000437664 OR RCV000454900 OR RCV000803078 OR RCV003447111" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000056254, RCV000437664, RCV000454900, RCV000803078, RCV003447111" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000056254...</a>
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<p>In a 38-year-old Kuwaiti man with autosomal recessive epidermolysis bullosa simplex-3 with BP 230 deficiency (EBS3; <a href="/entry/615425">615425</a>), <a href="#9" class="mim-tip-reference" title="Groves, R. W., Liu, L., Dopping-Hepenstal, P. J., Markus, H. S., Lovell, P. A., Ozoemena, L., Lai-Cheong, J. E., Gawler, J., Owaribe, K., Hashimoto, T., Mellerio, J. E., Mee, J. B., McGrath, J. A. <strong>A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.</strong> J. Invest. Derm. 130: 1551-1557, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20164846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20164846</a>] [<a href="https://doi.org/10.1038/jid.2010.19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20164846">Groves et al. (2010)</a> identified a homozygous c.3478C-T transition in exon 23 of the DST gene, resulting in a gln1124-to-ter (Q1124X) substitution in the coiled-coil domain. The mutation was not found in 200 ethnically matched chromosomes. RT-PCR showed 25% decreased gene expression in the 3-prime untranslated region with only slight reduction in expression for other gene regions. The coiled-coil domain is exclusively expressed in the BPAG1-e and BPAG1-n isoforms, which are expressed in the skin and nervous system, respectively. The patient had a lifelong history of trauma-induced spontaneous blisters and erosions particularly affecting his ankles and feet, although the face, trunk, and more proximal limbs were also affected. He also had nail dystrophy and moderate dental caries, but hair was normal and there was no history of mucosal blistering. Electron microscopic analysis of a skin biopsy showed discrete abnormalities of hemidesmosomes, with poorly formed inner plaques leading to a lucent zone between keratin filaments and outer hemidesmosomal plaques, which showed no gross abnormalities. Immunofluorescence staining showed absence of BPAG1-e at the dermal-epidermal junction and in keratinocytes. There was also decreased immunoreactivity for integrin beta-4 (ITGB4; <a href="/entry/147557">147557</a>), PLEC1 (<a href="/entry/601282">601282</a>), and COL17A1 (<a href="/entry/113811">113811</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20164846" 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 Israeli sisters of Iraqi descent (family A) with EBS with acral blistering, <a href="#8" class="mim-tip-reference" title="Ganani, D., Malovitski, K., Sarig, O., Gat, A., Sprecher, E., Samuelov, L. <strong>Epidermolysis bullosa simplex due to bi-allelic DST mutations: case series and review of the literature.</strong> Pediat. Derm. 38: 436-441, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33471381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33471381</a>] [<a href="https://doi.org/10.1111/pde.14477" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33471381">Ganani et al. (2021)</a> identified homozygosity for a c.3370C-T transition in the DST gene (GRCh37), resulting in the previously reported Q1124X substitution. Neither sister displayed any neurologic symptoms. Their father and paternal grandmother were also affected; familial segregation was not reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33471381" 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>.0003 EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY</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> rs398122943 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122943;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/rs398122943?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=rs398122943" 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=rs398122943" 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 34-year-old Iranian woman from a consanguineous family with autosomal recessive epidermolysis simplex-3 with BP230 deficiency (EBS3; <a href="/entry/615425">615425</a>), <a href="#15" class="mim-tip-reference" title="Liu, L., Dopping-Hepenstal, P. J., Lovell, P. A., Michael, M., Horn, H., Fong, K., Lai-Cheong, J. E., Mellerio, J. E., Parsons, M., McGrath, J. A. <strong>Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. (Letter)</strong> J. Invest. Derm. 132: 742-744, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22113475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22113475</a>] [<a href="https://doi.org/10.1038/jid.2011.379" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22113475">Liu et al. (2012)</a> identified a homozygous c.3853A-T transversion in the DST gene, resulting in an arg1249-to-ter (R1249X) substitution in the coiled-coil domain. The mutation was not found in 200 ethnically matched control chromosomes. The patient had a lifelong history of mild trauma-induced blistering mainly of the ankles, feet, dorsal aspects of the hands, and elbows, but had no hair, nail, mucosal, or genital involvement. Electron microscopy of skin biopsy showed abnormal hemidesmosomes with poorly formed inner plaques and a lucent zone between keratin filaments and outer hemidesmosomal plaques. The keratin filaments extended to where the inner plaques should be, but did not associate with any attachment structures. Immunostaining for BPAG1-e showed complete absence of the protein in the patient's skin sample. Her father and 2 of her 3 children also had mild blistering, but skin biopsies and DNA were not available from those individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22113475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI</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">rs1562435373 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1562435373;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=rs1562435373" 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=rs1562435373" 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=RCV000754992" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000754992" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000754992</a>
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<p>In 3 Italian sibs with an adult form of hereditary sensory and autonomic neuropathy type VI (HSAN6; <a href="/entry/614653">614653</a>), <a href="#7" class="mim-tip-reference" title="Fortugno, P., Angelucci, F., Cestra, G., Camerota, L., Ferraro, A. S., Cordisco, S., Uccioli, L., Castiglia, D., De Angelis, B., Kurth, I., Kornak, U., Brancati, F. <strong>Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.</strong> Hum. Mutat. 40: 106-114, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30371979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30371979</a>] [<a href="https://doi.org/10.1002/humu.23678" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30371979">Fortugno et al. (2019)</a> identified compound heterozygous mutations in the DST gene: a c.12988A-T transversion (c.12988A-T, NM_001144769.2), resulting in a lys4330-to-ter (K4330X) substitution, and a c.608C-A transversion, resulting in an ala203-to-glu substitution (A203E; <a href="#0005">113810.0005</a>) at a highly conserved residue in an isoform-specific N-terminal region of the protein. The patients had ulcerations of the feet, painless fractures, amputations of the toes, and joint deformities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30371979" 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 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI</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">rs201871537 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201871537;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=rs201871537" 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=rs201871537" 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=RCV000757892" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000757892" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000757892</a>
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<p>For discussion of the c.608C-A transversion (c.608C-A, NM_001144769.2) in the DST gene, resulting in an ala203-to-glu substitution, that was found in compound heterozygous state in affected members of a family with hereditary sensory and autonomic neuropathy type VI (HSAN6; <a href="/entry/614653">614653</a>) by <a href="#7" class="mim-tip-reference" title="Fortugno, P., Angelucci, F., Cestra, G., Camerota, L., Ferraro, A. S., Cordisco, S., Uccioli, L., Castiglia, D., De Angelis, B., Kurth, I., Kornak, U., Brancati, F. <strong>Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.</strong> Hum. Mutat. 40: 106-114, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30371979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30371979</a>] [<a href="https://doi.org/10.1002/humu.23678" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30371979">Fortugno et al. (2019)</a>, see <a href="#0004">113810.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30371979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<strong>.0006 EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY</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">rs2152729916 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2152729916;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=rs2152729916" 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=rs2152729916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001824083" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001824083" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001824083</a>
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<p>In an 8-year-old Israeli boy of Indian origin (family C) with epidermolysis bullosa simplex (EBS3; <a href="/entry/615425">615425</a>), <a href="#8" class="mim-tip-reference" title="Ganani, D., Malovitski, K., Sarig, O., Gat, A., Sprecher, E., Samuelov, L. <strong>Epidermolysis bullosa simplex due to bi-allelic DST mutations: case series and review of the literature.</strong> Pediat. Derm. 38: 436-441, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33471381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33471381</a>] [<a href="https://doi.org/10.1111/pde.14477" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33471381">Ganani et al. (2021)</a> identified homozygosity for a 1-bp duplication (c.7097dupA) in the DST gene, resulting in a tyr2366-to-ter (Y2366X) substitution. In an Israeli brother and sister of Indian origin (family B) with EBS, the authors identified compound heterozygosity for the c.7097dupA mutation and a 1-bp deletion (c.7429delC), causing a frameshift predicted to result in another premature termination codon (Leu2477SerfsTer13). Haplotype analysis did not support the existence of a founder mutation in the 2 families. Familial segregation was not reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33471381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4>
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<strong>.0007 EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY</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">rs2152728832 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2152728832;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=rs2152728832" 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=rs2152728832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001824084" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001824084" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001824084</a>
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<p>For discussion of the 1-bp deletion (c.7429delC) in the DST gene, causing a frameshift predicted to result in a premature termination codon (Leu2477SerfsTer13), that was found in compound heterozygous state in an Israeli brother and sister of Indian origin (family B) with epidermolysis bullosa simplex (EBS3; <a href="/entry/615425">615425</a>) by <a href="#8" class="mim-tip-reference" title="Ganani, D., Malovitski, K., Sarig, O., Gat, A., Sprecher, E., Samuelov, L. <strong>Epidermolysis bullosa simplex due to bi-allelic DST mutations: case series and review of the literature.</strong> Pediat. Derm. 38: 436-441, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33471381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33471381</a>] [<a href="https://doi.org/10.1111/pde.14477" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33471381">Ganani et al. (2021)</a>, see <a href="#0006">113810.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33471381" 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 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI</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> rs374616412 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs374616412;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/rs374616412?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=rs374616412" 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=rs374616412" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002260874" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002260874" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002260874</a>
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<p>In 3 adult brothers with hereditary sensory and autonomic neuropathy type VI (HSAN6; <a href="/entry/614653">614653</a>), who were born to nonconsanguineous Italian parents, <a href="#16" class="mim-tip-reference" title="Manganelli, F., Parisi, S., Nolano, M., Tao, F., Paladino, S., Pisciotta, C., Tozza, S., Nesti, C., Rebelo, A. P. Provitera, V., Santorelli, F. M., Shy, M. E., Russo, T., Zuchner, S., Santoro, L. <strong>Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.</strong> Neurology 88: 2132-2140, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28468842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28468842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28468842[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.0000000000003992" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28468842">Manganelli et al. (2017)</a> identified compound heterozygous mutations in the DST gene: c.616C-T transition in exon 4, resulting in an arg206-to-trp (R206W) substitution, and a G-A transition at the splice donor site of exon 5 (c.687+1G-A; <a href="#0009">113810.0009</a>), resulting in a frameshift in which translation reads into the intron for another 21 basepairs before encountering a premature termination codon. Both mutations affected only the DST neuronal isoform-a2. The patients had disease onset in infancy with painless and progressive mutilating distal ulcerations leading to amputation and joint deformity. At the time of evaluation, the unaffected patients were in their forties. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28468842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<h4>
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<strong>.0009 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI</strong>
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DST, IVS5DS, G-A, +1
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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> rs1426972011 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1426972011;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/rs1426972011?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=rs1426972011" 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=rs1426972011" 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=RCV002260875" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002260875" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002260875</a>
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<p>For discussion of the c.687+1G-A splice site mutation in intron 5 of the DST gene that was found in compound heterozygous state in affected members of a family with hereditary sensory and autonomic neuropathy type VI (HSAN6; <a href="/entry/614653">614653</a>) by <a href="#16" class="mim-tip-reference" title="Manganelli, F., Parisi, S., Nolano, M., Tao, F., Paladino, S., Pisciotta, C., Tozza, S., Nesti, C., Rebelo, A. P. Provitera, V., Santorelli, F. M., Shy, M. E., Russo, T., Zuchner, S., Santoro, L. <strong>Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.</strong> Neurology 88: 2132-2140, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28468842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28468842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28468842[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.0000000000003992" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28468842">Manganelli et al. (2017)</a>, see <a href="#0008">113810.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28468842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Diaz1990" class="mim-tip-reference" title="Diaz, L. A., Ratrie, H., III, Saunders, W. S., Futamura, S., Squiquera, H. L., Anhalt, G. J., Giudice, G. J. <strong>Isolation of a human epidermal cDNA corresponding to the 180-kD autoantigen recognized by bullous pemphigoid and herpes gestationis sera: immunolocalization of this protein to the hemidesmosome.</strong> J. Clin. Invest. 86: 1088-1094, 1990.">Diaz et al. (1990)</a>
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[<a href="https://doi.org/10.1006/geno.1995.9936" target="_blank">Full Text</a>]
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Brown, A., Lemieux, N., Rossant, J., Kothary, R.
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[<a href="https://doi.org/10.1007/BF00357004" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8432531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8432531</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8432531" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1993.1027" target="_blank">Full Text</a>]
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Diaz, L. A., Ratrie, H., III, Saunders, W. S., Futamura, S., Squiquera, H. L., Anhalt, G. J., Giudice, G. J.
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<strong>Isolation of a human epidermal cDNA corresponding to the 180-kD autoantigen recognized by bullous pemphigoid and herpes gestationis sera: immunolocalization of this protein to the hemidesmosome.</strong>
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J. Clin. Invest. 86: 1088-1094, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1698819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1698819</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1698819" 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/10.1172/JCI114812" target="_blank">Full Text</a>]
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Edvardson, S., Cinnamon, Y., Jalas, C., Shaag, A., Maayan, C., Axelrod, F. B., Elpeleg, O.
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<strong>Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22522446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22522446</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22522446" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.23524" target="_blank">Full Text</a>]
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<a id="Fortugno2019" class="mim-anchor"></a>
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Fortugno, P., Angelucci, F., Cestra, G., Camerota, L., Ferraro, A. S., Cordisco, S., Uccioli, L., Castiglia, D., De Angelis, B., Kurth, I., Kornak, U., Brancati, F.
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<strong>Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.</strong>
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Hum. Mutat. 40: 106-114, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30371979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30371979</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30371979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.23678" target="_blank">Full Text</a>]
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Ganani, D., Malovitski, K., Sarig, O., Gat, A., Sprecher, E., Samuelov, L.
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<strong>Epidermolysis bullosa simplex due to bi-allelic DST mutations: case series and review of the literature.</strong>
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Pediat. Derm. 38: 436-441, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33471381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33471381</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33471381" 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/10.1111/pde.14477" target="_blank">Full Text</a>]
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Groves, R. W., Liu, L., Dopping-Hepenstal, P. J., Markus, H. S., Lovell, P. A., Ozoemena, L., Lai-Cheong, J. E., Gawler, J., Owaribe, K., Hashimoto, T., Mellerio, J. E., Mee, J. B., McGrath, J. A.
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[<a href="https://doi.org/10.1038/jid.2010.19" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0092-8674(95)90333-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1034/j.1600-0625.2002.110506.x" target="_blank">Full Text</a>]
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Leung, C. L., Zheng, M., Prater, S. M., Liem, R. K. H.
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<strong>The BPAG1 locus: alternative splicing produces multiple isoforms with distinct cytoskeletal linker domains, including predominant isoforms in neurons and muscles.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11514586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11514586</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11514586[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=11514586" 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.200012098" target="_blank">Full Text</a>]
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Liu, J.-J., Ding, J., Kowal, A. S., Nardine, T., Allen, E., Delcroix, J.-D., Wu, C., Mobley, W., Fuchs, E., Yang, Y.
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<strong>BPAG1n4 is essential for retrograde axonal transport in sensory neurons.</strong>
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J. Cell Biol. 163: 223-229, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14581450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14581450</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14581450[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=14581450" 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.200306075" target="_blank">Full Text</a>]
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</p>
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<a id="14" class="mim-anchor"></a>
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<a id="Liu2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liu, J.-J., Ding, J., Wu, C., Bhagavatula, P., Cui, B., Chu, S., Mobley, W. C., Yang, Y.
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<strong>Retrolinkin, a membrane protein, plays an important role in retrograde axonal transport.</strong>
|
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Proc. Nat. Acad. Sci. 104: 2223-2228, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17287360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17287360</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17287360[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=17287360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0602222104" target="_blank">Full Text</a>]
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</p>
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<a id="15" class="mim-anchor"></a>
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<a id="Liu2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liu, L., Dopping-Hepenstal, P. J., Lovell, P. A., Michael, M., Horn, H., Fong, K., Lai-Cheong, J. E., Mellerio, J. E., Parsons, M., McGrath, J. A.
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|
<strong>Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. (Letter)</strong>
|
|
J. Invest. Derm. 132: 742-744, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22113475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22113475</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22113475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/jid.2011.379" target="_blank">Full Text</a>]
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</p>
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<a id="16" class="mim-anchor"></a>
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<a id="Manganelli2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Manganelli, F., Parisi, S., Nolano, M., Tao, F., Paladino, S., Pisciotta, C., Tozza, S., Nesti, C., Rebelo, A. P. Provitera, V., Santorelli, F. M., Shy, M. E., Russo, T., Zuchner, S., Santoro, L.
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<strong>Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.</strong>
|
|
Neurology 88: 2132-2140, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28468842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28468842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28468842[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=28468842" 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/10.1212/WNL.0000000000003992" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
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<a id="Minoshima1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Minoshima, S., Amagai, M., Kudoh, J., Fukuyama, R., Hashimoto, T., Nishikawa, T., Shimizu, N.
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<strong>Localization of the human gene for 230-kDa bullous pemphigoid autoantigen to the pter-q15 region of chromosome 6. (Abstract)</strong>
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Cytogenet. Cell Genet. 58: 1914-1915, 1991.
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<a id="18" class="mim-anchor"></a>
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<a id="Minoshima1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Minoshima, S., Amagai, M., Kudoh, J., Fukuyama, R., Hashimoto, T., Nishikawa, T., Shimizu, N.
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<strong>Localization of the human gene for 230-kDal bullous pemphigoid autoantigen (BPAG1) to chromosome 6pter-q15.</strong>
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Cytogenet. Cell Genet. 57: 30-32, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1855390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1855390</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1855390" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000133108" target="_blank">Full Text</a>]
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Okumura2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Okumura, M., Yamakawa, H., Ohara, O., Owaribe, K.
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<strong>Novel alternative splicings of BPAG1 (bullous pemphigoid antigen 1) including the domain structure closely related to MACF (microtubule actin cross-linking factor).</strong>
|
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J. Biol. Chem. 277: 6682-6687, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11751855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11751855</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11751855" 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/10.1074/jbc.M109209200" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
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<a id="Sawamura1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sawamura, D., Nomura, K., Sugita, Y., Mattei, M.-G., Chu, M.-L., Knowlton, R., Uitto, J.
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<strong>Bullous pemphigoid antigen (BPAG1): cDNA cloning and mapping of the gene to the short arm of human chromosome 6.</strong>
|
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Genomics 8: 722-726, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2276744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2276744</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2276744" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(90)90261-r" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
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<a id="Stanley1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stanley, J. R., Tanaka, T., Mueller, S., Klaus-Kovtun, V., Roop, D.
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<strong>Isolation of complementary DNA for bullous pemphigoid antigen by use of patients' autoantibodies.</strong>
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J. Clin. Invest. 82: 1864-1870, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2461961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2461961</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2461961" 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/10.1172/JCI113803" target="_blank">Full Text</a>]
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<a id="22" class="mim-anchor"></a>
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<a id="Tamai1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tamai, K., Sawamura, D., Do, H. C., Tamai, Y., Li, K., Uitto, J.
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<strong>The human 230-kD bullous pemphigoid antigen gene (BPAG1): exon-intron organization and identification of regulatory tissue specific elements in the promoter region.</strong>
|
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J. Clin. Invest. 92: 814-822, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8349819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8349819</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8349819" 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/10.1172/JCI116655" target="_blank">Full Text</a>]
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<a id="23" class="mim-anchor"></a>
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<a id="Yang1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yang, Y., Bauer, C., Strasser, G., Wollman, R., Julien, J.-P., Fuchs, E.
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<strong>Integrators of the cytoskeleton that stabilize microtubules.</strong>
|
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Cell 98: 229-238, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10428034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10428034</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10428034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0092-8674(00)81017-x" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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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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</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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Sonja A. Rasmussen - updated : 06/27/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 02/03/2022<br>Sonja A. Rasmussen - updated : 10/14/2021<br>Cassandra L. Kniffin - updated : 9/24/2013<br>Cassandra L. Kniffin - updated : 5/29/2012<br>Matthew B. Gross - updated : 10/10/2007<br>Patricia A. Hartz - updated : 7/10/2007<br>Patricia A. Hartz - updated : 10/7/2003<br>Stylianos E. Antonarakis - updated : 7/29/1999<br>Alan F. Scott - updated : 11/8/1995
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</span>
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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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<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 : 8/23/1990
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/12/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/28/2022<br>carol : 06/27/2022<br>alopez : 02/03/2022<br>alopez : 10/29/2021<br>carol : 10/17/2021<br>carol : 10/17/2021<br>carol : 10/15/2021<br>alopez : 10/14/2021<br>carol : 01/09/2020<br>carol : 01/08/2020<br>carol : 07/31/2014<br>carol : 9/30/2013<br>ckniffin : 9/24/2013<br>carol : 9/18/2013<br>alopez : 5/29/2012<br>ckniffin : 5/29/2012<br>mgross : 10/10/2007<br>mgross : 10/10/2007<br>terry : 7/10/2007<br>carol : 7/21/2006<br>carol : 7/21/2006<br>terry : 3/14/2005<br>mgross : 10/7/2003<br>alopez : 3/13/2002<br>mgross : 7/29/1999<br>carol : 4/20/1998<br>mark : 5/30/1996<br>mark : 5/29/1996<br>terry : 4/17/1996<br>mark : 3/7/1996<br>mark : 7/2/1995<br>carol : 9/16/1993<br>carol : 3/11/1993<br>supermim : 3/16/1992<br>carol : 2/21/1992
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<h3>
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<span class="mim-font">
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<strong>*</strong> 113810
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<div>
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<h3>
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<span class="mim-font">
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DYSTONIN; DST
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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DYSTONIA MUSCULORUM, MOUSE, HOMOLOG OF; DMH; DT<br />
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BULLOUS PEMPHIGOID ANTIGEN 1; BPAG1<br />
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BP230<br />
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BP240
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</span>
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</h4>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: DST</em></strong>
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</span>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1279838005;
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</span>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 6p12.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 6:56,457,996-56,954,830 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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6p12.1
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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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Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency
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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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615425
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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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<tr>
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<td>
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<span class="mim-font">
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Neuropathy, hereditary sensory and autonomic, type VI
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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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614653
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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 DST gene encodes dystonin, a large protein that is a member of the plakin family of proteins, which bridge the cytoskeletal filament networks. Different DST transcripts are expressed in the central nervous system, muscle, and skin (summary by Edvardson et al., 2012). </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>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>One of the components of the basement membrane zone of the skin is a 230- to 240-kD glycoprotein that serves as an autoantigen in the blistering disease bullous pemphigoid. Stanley et al. (1988) isolated a 2.2-kb cDNA coding for the C-terminal region of the bullous pemphigoid antigen by immunoscreening a human epidermal keratinocyte cDNA library. Sawamura et al. (1990) isolated cDNAs coding for human BPAG1. </p><p>Dystonia musculorum (dt) is a hereditary neurodegenerative disease in mice that leads to sensory ataxia (see ANIMAL MODEL). Brown et al. (1995) cloned a candidate gene for mouse dt, called dystonin, that was predominantly expressed in the dorsal root ganglia and other sites of neurodegeneration in dt mice. They showed that the dystonin gene encodes an N-terminal actin-binding domain and a C-terminal portion composed of the bullous pemphigoid antigen-1 protein; dystonin and Bpag1 are part of the same transcription unit. In mice, dystonin cDNAs occur as at least 2 neural isoforms generated by alternative splicing of exons at the 5-prime end of the gene. These cDNAs contain N-terminal domains with significant sequence similarity to the actin-binding motifs of dystrophin (300377), alpha-actinin (102575 and 102573), and beta-spectrin (182870). </p><p>Using the 5-prime portion of mouse dystonin to screen a retina cDNA library, followed by screening a fetal brain cDNA library, Brown et al. (1995) cloned the 5-prime neural-specific exons of 2 human dystonin variants, which splice to the previously cloned BPAG1 coding region. These variants differ at their 5-prime ends, but both encode proteins with N-terminal actin-binding domains. The N-terminal portions of the 2 human dystrophin isoforms share more than 96% identity with the corresponding regions of their mouse homologs. </p><p>Yang et al. (1999) noted that the human BPAG1 gene encodes 2 neuronal splice variants, BPAG1n1 and BPAG1n2, which encode proteins containing an N-terminal actin-binding domain, and an epidermal splice variant, BPAG1e, which encodes a protein lacking the N-terminal actin-binding domain. They cloned a third human BPAG1 neural splice variant, BPAG1n3, that encodes a protein lacking the actin-binding domain. </p><p>Leung et al. (2001) identified 4 splice variants of mouse Bpag1. They encode proteins that vary in size from 2,611 to 7,169 amino acids and differ in their domain organization. These domains include an N-terminal actin-binding domain, a plakin domain, a coiled-coil rod domain, 2 different intermediate filament-binding domains, a long spectrin repeat, and a C-terminal microtubule-binding domain. Northern blot analysis of mouse tissues revealed tissue-specific expression of the Bpag1 variants. </p><p>By RT-PCR and genomic sequence analysis, Okumura et al. (2002) identified several novel human BPAG1 variants encoding proteins of 1,740 to 5,172 amino acids with distinct domain structures. Northern blot analysis of human tissues using probes corresponding to specific BPAG1 domains detected multiple BPAG1 transcripts that were expressed in a tissue-specific manner. Overall, BPAG1 expression was highest in skeletal muscle and cultured keratinocytes. Immunofluorescence microscopy using antibodies against specific BPAG1 domains revealed that BPAG1 isoforms containing the plakin domain, rod domain, or C-terminal globular domain were expressed in the basement membrane zone of human skin, where hemidesmosomes localize. Epithelial cells were also stained with the anti-plakin domain antibody. </p><p>By RT-PCR, Kazerounian et al. (2002) surveyed the tissue distribution of several plakin family members, including periplakin (602871), plectin (601282), desmoplakin (125647), epidermal BPAG1, and envoplakin (601590). The epidermal BPAG1 variant was the only plakin family member that showed strict keratinocyte expression. </p><p>Liu et al. (2003) identified a novel neuronal-specific human BPAG1 isoform, BPAG1n4. Unlike the other 3 neuronal isoforms, which differ only in their N termini, BPAG1n4 also differs at its C terminus. Instead of the rod and intermediate filament-binding domains, BPAG1n4 has a central ezrin (VIL2; 123900)-radixin (RDX; 179410)-moesin (MSN; 309845) (ERM) domain and a C-terminal EF-hand Ca(2+)-binding motif immediately upstream of a GAS2 (602835) motif. Immunohistochemical analysis localized mouse Bpag1n4 to vesicle-like structures associated with microtubules in sensory neurons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Tamai et al. (1993) showed that the BPAG1 gene has a coding sequence of approximately 9 kb and contains 22 exons varying from 78 to 2,810 bp. The 5-prime region, upstream from the ATG translation initiation codon, contains several putative transcriptional response elements, including 2 motifs potentially conferring keratinocyte-specific expression. </p><p>Okumura et al. (2002) reported that the BPAG1 gene contains 48 exons. Exons 1 through 6 are specific to BPAG1n variants, and exon 7 is specific to BPAG1e variants. </p>
|
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</span>
|
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<div>
|
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<br />
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
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|
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<span class="mim-text-font">
|
|
<p>By chromosomal in situ hybridization, Sawamura et al. (1990) mapped the BPAG1 gene to chromosome 6p12-p11. The assignment was supported by Southern analysis of hybrid cell DNAs. Minoshima et al. (1991) likewise assigned the BPAG1 gene to 6p using spot-blot hybridization of flow-sorted chromosomes. Minoshima et al. (1991) also studied cells carrying a reciprocal translocation t(6;16)(q15;q24) which permitted localization of the BPAG1 gene to 6pter-q15. Copeland et al. (1993) demonstrated that the homologous murine gene, Bpag1, is located in the proximal region of chromosome 1, thus identifying a new region of homology between human chromosome 6 and mouse chromosome 1. </p><p>Brown et al. (1994) mapped the DST gene to chromosome 6p12 by FISH. </p>
|
|
</span>
|
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<div>
|
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<br />
|
|
</div>
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|
|
|
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
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|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Tamai et al. (1993) identified 2 motifs in the 5-prime region of BPAG1 that potentially confer keratinocyte-specific expression to the gene. The presence of such elements was suggested by an approximately 20-fold higher expression of a promoter/chloramphenicol acetyltransferase (CAT) construct in normal human epidermal keratinocytes that expressed the endogenous gene, as compared to several nonexpressing cell types. Transient transfections with 5-prime deletion clones of the promoter/reporter gene constructs identified a region containing a putative tissue-specific element, KRE2, which also conferred tissue specificity to the expression of the truncated promoter downstream from this element; however, a mutated derivative of KRE2 was not functional. </p><p>Sensory neurodegeneration occurs in mice defective in Bpag1, a gene encoding cytoskeletal linker proteins capable of anchoring neuronal intermediate filaments to actin cytoskeleton. While Bpag1-null mice fail to anchor neurofilaments (NFs), Bpag1/NF-null mice still degenerate in the absence of NFs. Yang et al. (1999) found that BPAG1n3, the BPAG1 neural splice form lacking the actin-binding domain, bound and stabilized microtubules. This interaction was functionally important; in mice and in vitro, neurons lacking BPAG1 displayed short, disorganized, and unstable microtubules defective in axonal transport. BPAG1 neural isoforms represent microtubule-associated proteins that when absent lead to devastating consequences. Moreover, BPAG1 can functionally account for the extraordinary stability of axonal microtubules necessary for transport over long distances. Its isoforms interconnect all 3 cytoskeletal networks, a feature apparently central to neuronal survival. </p><p>Using yeast 2-hybrid analysis, blot overlay binding assays, and coimmunoprecipitation analysis, Liu et al. (2003) showed that BPAG1n4 interacted directly with dynactin-1 (DCTN1; 601143) through its ERM domain. Furthermore, Bpag1n4 colocalized with the dynactin/dynein (see DYNC1H1; 600112) complex in mouse sensory axons. Disruption of the interaction between Bpag1n4 and Dctn1 resulted in severe defects in retrograde axonal transport. </p><p>Liu et al. (2007) found that an endosomal vesicle protein, retrolinkin, functioned as a receptor tethering vesicles to dynein/dynactin through BPAG1n4. Retrolinkin bound directly to BPAG1n4, and deletion of retrolinkin membrane-associated domains disrupted retrograde vesicular transport in mouse neurons. </p>
|
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</span>
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<div>
|
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<br />
|
|
</div>
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
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</span>
|
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</h4>
|
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</div>
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|
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<span class="mim-text-font">
|
|
<p><strong><em>Hereditary Sensory and Autonomic Neuropathy Type VI</em></strong></p><p>
|
|
By homozygosity mapping followed by whole-exome sequencing in an Ashkenazi Jewish family with severe hereditary sensory and autonomic neuropathy type VI (HSAN6; 614653), Edvardson et al. (2012) identified a homozygous truncating mutation in the DST gene (113810.0001). The phenotype was characterized by neonatal onset of hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection. All 3 patients died by age 2 years. </p><p>In 3 members of an Italian family with an adult form of HSAN6, Fortugno et al. (2019) identified novel compound heterozygous mutations in the DST gene: a nonsense mutation (K4330X; 113810.0004) and a missense mutation (A203E; 113810.0005) affecting a highly conserved residue in an isoform-specific N-terminal region of the dystonin protein. The mutations were found by whole-exome sequencing and confirmed by Sanger sequencing. Patient cells demonstrated defects in actin cytoskeleton organization and delayed cell adhesion, spreading, and migration, and the A203E missense mutation was shown to disrupt dystonin binding to actin. Affected individuals were seen in their fifties to seventies with ulcerations of the feet, painless fractures, amputations of the toes, and joint deformities. The authors proposed that homozygous truncating mutations result in a severe disorder with congenital defects and early lethality, whereas compound heterozygosity for a truncating and a missense mutation partially maintains dystonin protein expression and function and thus causes neuropathy that is compatible with an adult onset of disease. </p><p>In 3 adult brothers, born to healthy nonconsanguineous Italian parents, with HSAN-VI, Manganelli et al. (2017) identified compound heterozygosity for 2 mutations in the DST gene (113810.0008-113810.0009) affecting only neuronal isoform-a2. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the phenotype in the family. Levels of the DST protein were absent or very low in neurons derived from induced pluripotent stem cells of the patients. </p><p><strong><em>Autosomal Recessive Epidermolysis Bullosa Simplex 3</em></strong></p><p>
|
|
In a Kuwaiti man with autosomal recessive epidermolysis bullosa simplex-3 with BP230 deficiency (EBS3; 615425), Groves et al. (2010) identified a homozygous truncating mutation in the DST gene (Q1124X; 113810.0002). The mutation was not found in 200 ethnically matched chromosomes. RT-PCR showed an approximately 25% decrease in gene expression in the 3-prime untranslated region with only slight reduction in expression for other gene regions. The coiled-coil domain is exclusively expressed in the BPAG1-e and BPAG1-n isoforms, which are expressed in the skin and nervous system, respectively. </p><p>In a 34-year-old Iranian woman from a consanguineous family with epidermolysis bullosa simplex, Liu et al. (2012) identified a homozygous truncating mutation in the DST gene (R1249X; 113810.0003). </p><p>In affected members of 3 families with EBS, Ganani et al. (2021) identified biallelic mutations in the DST gene: homozygosity for the previously reported Q1124X mutation in 2 sisters of Iraqi descent, homozygosity for a 1-bp duplication (113810.0006) in an 8-year-old boy of Indian origin, and compound heterozygosity for the same 1-bp duplication and a 1-bp deletion (113810.0007) in a brother and sister of Indian origin. </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">
|
|
<p>BPAG1 is made by stratified squamous epithelia, where it localizes to the inner surface of specialized integrin-mediated adherens junctions (hemidesmosomes). Guo et al. (1995) explored the function of BPAG1 and its relationship to bullous pemphigoid by targeting the knockout of the Bpag1 gene in mice. Hemidesmosomes were otherwise normal but they lacked the inner plate and had no cytoskeleton attached. Though not affecting cell growth or adhesion to substrate, this change compromised mechanical integrity and influenced migration. Unexpectedly, the mice also developed severe dystonia and sensory nerve degeneration typical of homozygous dystonia musculorum (dt/dt) mice. Guo et al. (1995) showed that the Bpag1 gene is defective in at least 1 strain of mice with spontaneous homozygous dystonia musculorum. Guo et al. (1995) presented evidence that the dt/dt locus on mouse chromosome 1 is the same as the Bpag1 locus. </p><p>Brown et al. (1995) found that the dystonin transcription unit was partially deleted in a transgenic strain of mice harboring an insertion mutation at the dt locus and in mice carrying a spontaneous dt mutation. They also demonstrated abnormal dystonin transcripts in a second dt mutant. Brown et al. (1995) concluded that mutations in the dystonin gene are the primary genetic lesion in dt mice. They proposed that mutations in dystonin lead to neurodegeneration due to disruption of actin or neurofilament networks. </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>9 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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI</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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DST, 1-BP DEL, 14865A
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<br />
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SNP: rs398122819,
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gnomAD: rs398122819,
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ClinVar: RCV000024316, RCV001552535
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In affected members of a large consanguineous Ashkenazi Jewish family with hereditary sensory and autonomic neuropathy type VI (HSAN6; 614653), Edvardson et al. (2012) identified a homozygous 1-bp deletion (14865delA) in the DST gene, resulting in a frameshift that starts at glu4955 and a premature termination predicted to lead to the loss of the C-terminal 502 amino acids. The mutation affected only the neuronal- and muscle-specific DST isoforms. The deletion was not found in 1,151 control individuals. The mutation was identified by homozygosity mapping followed by exome sequencing and was confirmed by Sanger sequencing. </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>.0002 EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY</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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DST, GLN1124TER
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<br />
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SNP: rs201045495,
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gnomAD: rs201045495,
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ClinVar: RCV000056254, RCV000437664, RCV000454900, RCV000803078, RCV003447111
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 38-year-old Kuwaiti man with autosomal recessive epidermolysis bullosa simplex-3 with BP 230 deficiency (EBS3; 615425), Groves et al. (2010) identified a homozygous c.3478C-T transition in exon 23 of the DST gene, resulting in a gln1124-to-ter (Q1124X) substitution in the coiled-coil domain. The mutation was not found in 200 ethnically matched chromosomes. RT-PCR showed 25% decreased gene expression in the 3-prime untranslated region with only slight reduction in expression for other gene regions. The coiled-coil domain is exclusively expressed in the BPAG1-e and BPAG1-n isoforms, which are expressed in the skin and nervous system, respectively. The patient had a lifelong history of trauma-induced spontaneous blisters and erosions particularly affecting his ankles and feet, although the face, trunk, and more proximal limbs were also affected. He also had nail dystrophy and moderate dental caries, but hair was normal and there was no history of mucosal blistering. Electron microscopic analysis of a skin biopsy showed discrete abnormalities of hemidesmosomes, with poorly formed inner plaques leading to a lucent zone between keratin filaments and outer hemidesmosomal plaques, which showed no gross abnormalities. Immunofluorescence staining showed absence of BPAG1-e at the dermal-epidermal junction and in keratinocytes. There was also decreased immunoreactivity for integrin beta-4 (ITGB4; 147557), PLEC1 (601282), and COL17A1 (113811). </p><p>In 2 Israeli sisters of Iraqi descent (family A) with EBS with acral blistering, Ganani et al. (2021) identified homozygosity for a c.3370C-T transition in the DST gene (GRCh37), resulting in the previously reported Q1124X substitution. Neither sister displayed any neurologic symptoms. Their father and paternal grandmother were also affected; familial segregation was not reported. </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>
|
|
<span class="mim-font">
|
|
<strong>.0003 EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY</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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DST, ARG1249TER
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<br />
|
|
|
|
SNP: rs398122943,
|
|
|
|
|
|
gnomAD: rs398122943,
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|
|
|
|
ClinVar: RCV000056255, RCV003447112
|
|
|
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|
|
</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a 34-year-old Iranian woman from a consanguineous family with autosomal recessive epidermolysis simplex-3 with BP230 deficiency (EBS3; 615425), Liu et al. (2012) identified a homozygous c.3853A-T transversion in the DST gene, resulting in an arg1249-to-ter (R1249X) substitution in the coiled-coil domain. The mutation was not found in 200 ethnically matched control chromosomes. The patient had a lifelong history of mild trauma-induced blistering mainly of the ankles, feet, dorsal aspects of the hands, and elbows, but had no hair, nail, mucosal, or genital involvement. Electron microscopy of skin biopsy showed abnormal hemidesmosomes with poorly formed inner plaques and a lucent zone between keratin filaments and outer hemidesmosomal plaques. The keratin filaments extended to where the inner plaques should be, but did not associate with any attachment structures. Immunostaining for BPAG1-e showed complete absence of the protein in the patient's skin sample. Her father and 2 of her 3 children also had mild blistering, but skin biopsies and DNA were not available from those individuals. </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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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
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|
|
|
DST, LYS4330TER
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<br />
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|
|
SNP: rs1562435373,
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|
|
ClinVar: RCV000754992
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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 Italian sibs with an adult form of hereditary sensory and autonomic neuropathy type VI (HSAN6; 614653), Fortugno et al. (2019) identified compound heterozygous mutations in the DST gene: a c.12988A-T transversion (c.12988A-T, NM_001144769.2), resulting in a lys4330-to-ter (K4330X) substitution, and a c.608C-A transversion, resulting in an ala203-to-glu substitution (A203E; 113810.0005) at a highly conserved residue in an isoform-specific N-terminal region of the protein. The patients had ulcerations of the feet, painless fractures, amputations of the toes, and joint deformities. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
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|
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|
DST, ALA203GLU
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<br />
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SNP: rs201871537,
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|
|
ClinVar: RCV000757892
|
|
|
|
|
|
</span>
|
|
</div>
|
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.608C-A transversion (c.608C-A, NM_001144769.2) in the DST gene, resulting in an ala203-to-glu substitution, that was found in compound heterozygous state in affected members of a family with hereditary sensory and autonomic neuropathy type VI (HSAN6; 614653) by Fortugno et al. (2019), see 113810.0004. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
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DST, 1-BP DUP, 7097A
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|
<br />
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|
|
SNP: rs2152729916,
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|
ClinVar: RCV001824083
|
|
|
|
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 8-year-old Israeli boy of Indian origin (family C) with epidermolysis bullosa simplex (EBS3; 615425), Ganani et al. (2021) identified homozygosity for a 1-bp duplication (c.7097dupA) in the DST gene, resulting in a tyr2366-to-ter (Y2366X) substitution. In an Israeli brother and sister of Indian origin (family B) with EBS, the authors identified compound heterozygosity for the c.7097dupA mutation and a 1-bp deletion (c.7429delC), causing a frameshift predicted to result in another premature termination codon (Leu2477SerfsTer13). Haplotype analysis did not support the existence of a founder mutation in the 2 families. Familial segregation was not reported. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
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|
|
|
DST, 1-BP DEL, 7429C
|
|
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|
|
<br />
|
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|
|
SNP: rs2152728832,
|
|
|
|
|
|
|
|
ClinVar: RCV001824084
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion (c.7429delC) in the DST gene, causing a frameshift predicted to result in a premature termination codon (Leu2477SerfsTer13), that was found in compound heterozygous state in an Israeli brother and sister of Indian origin (family B) with epidermolysis bullosa simplex (EBS3; 615425) by Ganani et al. (2021), see 113810.0006. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DST, ARG206TRP
|
|
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|
|
<br />
|
|
|
|
SNP: rs374616412,
|
|
|
|
|
|
gnomAD: rs374616412,
|
|
|
|
|
|
ClinVar: RCV002260874
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 adult brothers with hereditary sensory and autonomic neuropathy type VI (HSAN6; 614653), who were born to nonconsanguineous Italian parents, Manganelli et al. (2017) identified compound heterozygous mutations in the DST gene: c.616C-T transition in exon 4, resulting in an arg206-to-trp (R206W) substitution, and a G-A transition at the splice donor site of exon 5 (c.687+1G-A; 113810.0009), resulting in a frameshift in which translation reads into the intron for another 21 basepairs before encountering a premature termination codon. Both mutations affected only the DST neuronal isoform-a2. The patients had disease onset in infancy with painless and progressive mutilating distal ulcerations leading to amputation and joint deformity. At the time of evaluation, the unaffected patients were in their forties. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DST, IVS5DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1426972011,
|
|
|
|
|
|
gnomAD: rs1426972011,
|
|
|
|
|
|
ClinVar: RCV002260875
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.687+1G-A splice site mutation in intron 5 of the DST gene that was found in compound heterozygous state in affected members of a family with hereditary sensory and autonomic neuropathy type VI (HSAN6; 614653) by Manganelli et al. (2017), see 113810.0008. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Diaz et al. (1990)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
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|
<li>
|
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<p class="mim-text-font">
|
|
Brown, A., Bernier, G., Mathieu, M., Rossant, J., Kothary, R.
|
|
<strong>The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1.</strong>
|
|
Nature Genet. 10: 301-306, 1995.
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[PubMed: 7670468]
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[Full Text: https://doi.org/10.1038/ng0795-301]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Brown, A., Dalpe, G., Mathieu, M., Kothary, R.
|
|
<strong>Cloning and characterization of the neural isoforms of human dystonin.</strong>
|
|
Genomics 29: 777-780, 1995.
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[PubMed: 8575775]
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|
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Brown, A., Lemieux, N., Rossant, J., Kothary, R.
|
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<strong>Human homolog of a mouse sequence from the dystonia musculorum locus is on chromosome 6p12.</strong>
|
|
Mammalian Genome 5: 434-437, 1994.
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[PubMed: 7919656]
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[Full Text: https://doi.org/10.1007/BF00357004]
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|
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Copeland, N. G., Gilbert, D. J., Li, K., Sawamura, D., Giudice, G. J., Chu, M.-L., Jenkins, N. A., Uitto, J.
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<strong>Chromosomal localization of mouse bullous pemphigoid antigens, BPAG1 and BPAG2: identification of a new region of homology between mouse and human chromosomes.</strong>
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Genomics 15: 180-181, 1993.
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[PubMed: 8432531]
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[Full Text: https://doi.org/10.1006/geno.1993.1027]
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Diaz, L. A., Ratrie, H., III, Saunders, W. S., Futamura, S., Squiquera, H. L., Anhalt, G. J., Giudice, G. J.
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<strong>Isolation of a human epidermal cDNA corresponding to the 180-kD autoantigen recognized by bullous pemphigoid and herpes gestationis sera: immunolocalization of this protein to the hemidesmosome.</strong>
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J. Clin. Invest. 86: 1088-1094, 1990.
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[PubMed: 1698819]
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[Full Text: https://doi.org/10.1172/JCI114812]
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<p class="mim-text-font">
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Edvardson, S., Cinnamon, Y., Jalas, C., Shaag, A., Maayan, C., Axelrod, F. B., Elpeleg, O.
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<strong>Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.</strong>
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Ann. Neurol. 71: 569-572, 2012.
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[PubMed: 22522446]
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[Full Text: https://doi.org/10.1002/ana.23524]
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<p class="mim-text-font">
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Fortugno, P., Angelucci, F., Cestra, G., Camerota, L., Ferraro, A. S., Cordisco, S., Uccioli, L., Castiglia, D., De Angelis, B., Kurth, I., Kornak, U., Brancati, F.
|
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<strong>Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.</strong>
|
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Hum. Mutat. 40: 106-114, 2019.
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[PubMed: 30371979]
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[Full Text: https://doi.org/10.1002/humu.23678]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ganani, D., Malovitski, K., Sarig, O., Gat, A., Sprecher, E., Samuelov, L.
|
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<strong>Epidermolysis bullosa simplex due to bi-allelic DST mutations: case series and review of the literature.</strong>
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Pediat. Derm. 38: 436-441, 2021.
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[PubMed: 33471381]
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[Full Text: https://doi.org/10.1111/pde.14477]
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<p class="mim-text-font">
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Groves, R. W., Liu, L., Dopping-Hepenstal, P. J., Markus, H. S., Lovell, P. A., Ozoemena, L., Lai-Cheong, J. E., Gawler, J., Owaribe, K., Hashimoto, T., Mellerio, J. E., Mee, J. B., McGrath, J. A.
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<strong>A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.</strong>
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J. Invest. Derm. 130: 1551-1557, 2010.
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[PubMed: 20164846]
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[Full Text: https://doi.org/10.1038/jid.2010.19]
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<p class="mim-text-font">
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Guo, L., Degenstein, L., Dowling, J., Yu, Q.-C., Wollmann, R., Perman, B., Fuchs, E.
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<strong>Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration.</strong>
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Cell 81: 233-243, 1995.
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[PubMed: 7736575]
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[Full Text: https://doi.org/10.1016/0092-8674(95)90333-x]
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<p class="mim-text-font">
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Kazerounian, S., Uitto, J., Aho, S.
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<strong>Unique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentin.</strong>
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Exp. Derm. 11: 428-438, 2002.
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[PubMed: 12366696]
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[Full Text: https://doi.org/10.1034/j.1600-0625.2002.110506.x]
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Leung, C. L., Zheng, M., Prater, S. M., Liem, R. K. H.
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<strong>The BPAG1 locus: alternative splicing produces multiple isoforms with distinct cytoskeletal linker domains, including predominant isoforms in neurons and muscles.</strong>
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J. Cell Biol. 154: 691-697, 2001.
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[PubMed: 11514586]
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[Full Text: https://doi.org/10.1083/jcb.200012098]
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</p>
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<li>
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|
<p class="mim-text-font">
|
|
Liu, J.-J., Ding, J., Kowal, A. S., Nardine, T., Allen, E., Delcroix, J.-D., Wu, C., Mobley, W., Fuchs, E., Yang, Y.
|
|
<strong>BPAG1n4 is essential for retrograde axonal transport in sensory neurons.</strong>
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|
J. Cell Biol. 163: 223-229, 2003.
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|
|
|
[PubMed: 14581450]
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[Full Text: https://doi.org/10.1083/jcb.200306075]
|
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|
|
|
</p>
|
|
</li>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Liu, J.-J., Ding, J., Wu, C., Bhagavatula, P., Cui, B., Chu, S., Mobley, W. C., Yang, Y.
|
|
<strong>Retrolinkin, a membrane protein, plays an important role in retrograde axonal transport.</strong>
|
|
Proc. Nat. Acad. Sci. 104: 2223-2228, 2007.
|
|
|
|
|
|
[PubMed: 17287360]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.0602222104]
|
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|
|
|
</p>
|
|
</li>
|
|
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|
<li>
|
|
<p class="mim-text-font">
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<strong>Localization of the human gene for 230-kDal bullous pemphigoid autoantigen (BPAG1) to chromosome 6pter-q15.</strong>
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