3527 lines
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Entry
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- #619594 - EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C
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- OMIM
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<p>
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<span class="h4">#619594</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/619594"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS131760"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<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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<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="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 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=" 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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<div><a href="https://clinicaltrials.gov/search?cond=EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11426&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1369/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=619594[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><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79400" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></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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<div>
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<a id="title" class="mim-anchor"></a>
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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>ORPHA:</strong> 79400<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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619594
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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EPIDERMOLYSIS BULLOSA SIMPLEX 2C, WEBER-COCKAYNE TYPE
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene 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 table-hover small mim-table-padding">
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<tr class="active">
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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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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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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>
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<span class="mim-font">
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<a href="/geneMap/12/410?start=-3&limit=10&highlight=410">
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12q13.13
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</a>
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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 2C, localized
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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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<a href="/entry/619594"> 619594 </a>
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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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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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KRT5
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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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<a href="/entry/148040"> 148040 </a>
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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 class="btn-group ">
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<a href="/clinicalSynopsis/619594" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS131760" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/619594" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/619594" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p />
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mild blistering of palmar and plantar skin with physical trauma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5563514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5563514</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Electron Microscopy </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Vacuolization in basal epidermal cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5563515&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5563515</a>]</span><br /> -
|
|
Lateral aggregates of tonofilaments in basal epidermal cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5563516&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5563516</a>]</span><br /> -
|
|
Sparse tonofilaments in basal epidermal cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5563517&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5563517</a>]</span><br /> -
|
|
Irregular nuclei in basal epidermal cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5563518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5563518</a>]</span><br /> -
|
|
Segmented nuclei in basal epidermal cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5563519&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5563519</a>]</span><br /> -
|
|
Cytolysis of basal keratinocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5563512&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5563512</a>]</span><br /> -
|
|
Intraepidermal separation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5563520&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5563520</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nails </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dystrophic toenails (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833225&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833225</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001810" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001810</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001810" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001810</a>]</span><br /> -
|
|
Horizontal ridging of toenails <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5563521&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5563521</a>]</span><br /> -
|
|
Micronychia of fingernail or toenail <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5563522&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5563522</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
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|
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|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Affects palms, soles, and other areas of friction and pressure<br /> -
|
|
Improvement with age<br /> -
|
|
Some patients experience only mild blistering of soles after extensive walking<br /> -
|
|
Some patients show only nail dystrophy<br /> -
|
|
Patients with biallelic mutations involving the E170K mutation have been reported who show more severe EBS2C. Their heterozygous family members exhibit a milder phenotype<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the keratin-5 gene (KRT5, <a href="/entry/148040#0003">148040.0003</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Epidermolysis bullosa simplex
|
|
- <a href="/phenotypicSeries/PS131760">PS131760</a>
|
|
- 18 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/900?start=-3&limit=10&highlight=900"> 3q27.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617294"> Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617294"> 617294 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611295"> KLHL24 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611295"> 611295 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<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">
|
|
<a href="/entry/615425"> Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency </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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615425"> 615425 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/113810"> DST </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/113810"> 113810 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/621?start=-3&limit=10&highlight=621"> 8q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131950"> Epidermolysis bullosa simplex 5A, Ogna type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131950"> 131950 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> PLEC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> 601282 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/621?start=-3&limit=10&highlight=621"> 8q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612138"> Epidermolysis bullosa simplex 5C, with pyloric atresia </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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612138"> 612138 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> PLEC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> 601282 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/621?start=-3&limit=10&highlight=621"> 8q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/226670"> Epidermolysis bullosa simplex 5B, with muscular dystrophy </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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/226670"> 226670 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> PLEC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> 601282 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/621?start=-3&limit=10&highlight=621"> 8q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616487"> ?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive </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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616487"> 616487 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> PLEC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> 601282 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/48?start=-3&limit=10&highlight=48"> 11p15.5 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609057"> Epidermolysis bullosa simplex 7, with nephropathy and deafness </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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609057"> 609057 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602243"> CD151 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602243"> 602243 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/899?start=-3&limit=10&highlight=899"> 11q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615028"> Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive </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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615028"> 615028 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612878"> EXPH5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612878"> 612878 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619599"> Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive </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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619599"> 619599 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> KRT5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> 148040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619594"> Epidermolysis bullosa simplex 2C, localized </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619594"> 619594 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> KRT5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> 148040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609352"> Epidermolysis bullosa simplex 2E, with migratory circinate erythema </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609352"> 609352 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> KRT5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> 148040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619588"> Epidermolysis bullosa simplex 2B, generalized intermediate </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619588"> 619588 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> KRT5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> 148040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131960"> Epidermolysis bullosa simplex 2F, with mottled pigmentation </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131960"> 131960 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> KRT5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> 148040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619555"> Epidermolysis bullosa simplex 2A, generalized severe </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619555"> 619555 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> KRT5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> 148040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/549?start=-3&limit=10&highlight=549"> 17q21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601001"> Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive </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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601001"> 601001 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148066"> KRT14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148066"> 148066 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/549?start=-3&limit=10&highlight=549"> 17q21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131900"> Epidermolysis bullosa simplex 1B, generalized intermediate </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131900"> 131900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148066"> KRT14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148066"> 148066 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/549?start=-3&limit=10&highlight=549"> 17q21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131800"> Epidermolysis bullosa simplex 1C, localized </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131800"> 131800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148066"> KRT14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148066"> 148066 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/549?start=-3&limit=10&highlight=549"> 17q21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131760"> Epidermolysis bullosa simplex 1A, generalized severe </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131760"> 131760 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148066"> KRT14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148066"> 148066 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
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</div>
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<div>
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<p>A number sign (#) is used with this entry because localized epidermolysis bullosa-2C (EBS2C) is caused by heterozygous mutation in the KRT5 gene (<a href="/entry/148040">148040</a>) on chromosome 12q13.</p><p>Another form of localized EBS, EBS1C (<a href="/entry/131800">131800</a>), is caused by mutation in the KRT14 gene (<a href="/entry/148066">148066</a>).</p>
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<p>Localized epidermolysis bullosa simplex-2C (EBS2C) is an autosomal dominant skin disorder with intraepidermal blistering after minor trauma mainly restricted to hands and feet beginning in infancy. Nails may be thick and dystrophic (summary by <a href="#7" class="mim-tip-reference" title="Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., and 10 others. <strong>Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.</strong> Brit. J. Derm. 183: 614-627, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32017015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32017015</a>] [<a href="https://doi.org/10.1111/bjd.18921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32017015">Has et al., 2020</a>). Localized epidermolysis bullosa simplex has previously been known as the Weber-Cockayne type. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32017015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (<a href="/entry/131760">131760</a>).</p><p><strong><em>Reviews</em></strong></p><p>
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<a href="#7" class="mim-tip-reference" title="Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., and 10 others. <strong>Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.</strong> Brit. J. Derm. 183: 614-627, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32017015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32017015</a>] [<a href="https://doi.org/10.1111/bjd.18921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32017015">Has et al. (2020)</a> reviewed characteristic features and molecular bases of the subtypes of epidermolysis bullosa, and provided a consensus reclassification of disorders with skin fragility. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32017015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Chan, Y.-M., Yu, Q.-C., Fine, J.-D., Fuchs, E. <strong>The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.</strong> Proc. Nat. Acad. Sci. 90: 7414-7418, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7688477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7688477</a>] [<a href="https://doi.org/10.1073/pnas.90.15.7414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7688477">Chan et al. (1993)</a> studied 2 unrelated multigenerational families with EBS Weber-Cockayne type who carried mutations in the KRT5 gene. Affected family members had mild blistering of palmar and plantar skin upon physical trauma. Ultrastructural examination revealed features typical of EBS, including vacuoles and wavy tonofilament aggregates in basal cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7688477" 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="Yasukawa, K., Sawamura, D., McMillan, J. R., Nakamura, H., Shimizu, H. <strong>Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.</strong> J. Biol. Chem. 277: 23670-23674, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11973334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11973334</a>] [<a href="https://doi.org/10.1074/jbc.M200974200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11973334">Yasukawa et al. (2002)</a>, <a href="#10" class="mim-tip-reference" title="Oldak, M., Szczecinska, W., Przybylska, D., Maksym, R. B., Podgorska, M., Wozniak, K., Ploski, R., Kowalewski, C. <strong>Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex.</strong> J. Derm. Sci. 61: 64-67, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21144712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21144712</a>] [<a href="https://doi.org/10.1016/j.jdermsci.2010.11.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21144712">Oldak et al. (2011)</a>, <a href="#6" class="mim-tip-reference" title="Gonzalez-Cantero, A., Sanchez-Moya, A. I., Perez-Hortet, C., Martinez-Lorenzo, E., Gomez-Dorado, B., Schoendorff-Ortega, C. <strong>'Nails only' phenotype and partial dominance of p.glu170lys mutation in a family with epidermolysis bullosa simplex.</strong> Pediat. Derm. 34: e205-e206, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28425111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28425111</a>] [<a href="https://doi.org/10.1111/pde.13146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28425111">Gonzalez-Cantero et al. (2017)</a>, and <a href="#12" class="mim-tip-reference" title="Vahidnezhad, H., Youssefian, L., Daneshpazhooh, M., Mahmoudi, H., Kariminejad, A., Fischer, J., Christiansen, J., Schneider, H., Guy, A., Liu, L., McGrath, J. A., Has, C., Uitto, J. <strong>Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 'knock-out'.</strong> Matrix Biol. 83: 48-59, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31302245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31302245</a>] [<a href="https://doi.org/10.1016/j.matbio.2019.07.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31302245">Vahidnezhad et al. (2019)</a> described individuals with mild localized EBS phenotypes who were heterozygous for an E170K mutation in the KRT5 gene; these individuals had family members carrying the E170K mutation in either compound heterozygosity or homozygosity who had a more severe phenotype. See MOLECULAR GENETICS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11973334+31302245+21144712+28425111" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In an American family of Northern European ancestry (EBS-WC-Fo), <a href="#1" class="mim-tip-reference" title="Bonifas, J. M., Rothman, A. L., Epstein, E. H., Jr. <strong>Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.</strong> Science 254: 1202-1205, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1720261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1720261</a>] [<a href="https://doi.org/10.1126/science.1720261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1720261">Bonifas et al. (1991)</a> found linkage of the Weber-Cockayne form of EBS to markers D12S14 and D12S17, loci that map physically very near the keratin-5 gene on chromosome 12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1720261" 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>The genetic heterogeneity of the Weber-Cockayne form of EBS was indicated by the findings of <a href="#9" class="mim-tip-reference" title="McKenna, K. E., Hughes, A. E., Bingham, E. A., Nevin, N. C. <strong>Linkage of epidermolysis bullosa simplex to keratin gene loci.</strong> J. Med. Genet. 29: 568-570, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1381443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1381443</a>] [<a href="https://doi.org/10.1136/jmg.29.8.568" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1381443">McKenna et al. (1992)</a> in 2 families: 1 family showed linkage to markers on chromosome 17 flanking the keratin-14 gene and was excluded from linkage to markers on chromosome 12 flanking the keratin-5 gene. A second family showed linkage to the region containing the keratin 5 gene and was excluded from linkage to the keratin-14 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1381443" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of EBS2C in the families reported by <a href="#4" class="mim-tip-reference" title="Chan, Y.-M., Yu, Q.-C., Fine, J.-D., Fuchs, E. <strong>The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.</strong> Proc. Nat. Acad. Sci. 90: 7414-7418, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7688477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7688477</a>] [<a href="https://doi.org/10.1073/pnas.90.15.7414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7688477">Chan et al. (1993)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7688477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 2 unrelated families with Weber-Cockayne EBS, <a href="#4" class="mim-tip-reference" title="Chan, Y.-M., Yu, Q.-C., Fine, J.-D., Fuchs, E. <strong>The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.</strong> Proc. Nat. Acad. Sci. 90: 7414-7418, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7688477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7688477</a>] [<a href="https://doi.org/10.1073/pnas.90.15.7414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7688477">Chan et al. (1993)</a> identified a heterozygous mutation in the K5 gene (I161S; <a href="/entry/148040#0003">148040.0003</a>). <a href="#5" class="mim-tip-reference" title="Ehrlich, P., Sybert, V. P., Spencer, A., Stephens, K. <strong>A common keratin 5 gene mutation in epidermolysis bullosa simplex: Weber-Cockayne.</strong> J. Invest. Derm. 104: 877-879, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7537780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7537780</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12607050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7537780">Ehrlich et al. (1995)</a> identified the I161S mutation in 6 of 13 families with the Weber-Cockayne type of EB simplex. The high frequency of this mutation suggested either a hotspot or founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7537780+7688477" 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="Chan, Y., Yu, Q.-C., LeBlanc-Straceski, J., Christiano, A., Pulkkinen, L., Kucherlapati, R. S., Uitto, J., Fuchs, E. <strong>Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.</strong> J. Cell Sci. 107: 765-774, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7520042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7520042</a>] [<a href="https://doi.org/10.1242/jcs.107.4.765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7520042">Chan et al. (1994)</a> identified mutations in the K5 gene (<a href="/entry/148040#0004">148040.0004</a>; <a href="/entry/148040#0005">148040.0005</a>) in patients with Weber-Cockayne EBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7520042" 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="#11" class="mim-tip-reference" title="Pfendner, E. G., Sadowski, S. G., Uitto, J. <strong>Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis.</strong> J. Invest. Derm. 125: 239-243, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16098032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16098032</a>] [<a href="https://doi.org/10.1111/j.0022-202X.2005.23818.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16098032">Pfendner et al. (2005)</a> identified a heterozygous KRT5 mutation (I161S; <a href="/entry/148040#0003">148040.0003</a>) in a patient with blistering of the hands and feet. The patient's affected mother carried the same mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16098032" 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>E170K Mutation</em></strong></p><p>
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<a href="#13" class="mim-tip-reference" title="Yasukawa, K., Sawamura, D., McMillan, J. R., Nakamura, H., Shimizu, H. <strong>Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.</strong> J. Biol. Chem. 277: 23670-23674, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11973334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11973334</a>] [<a href="https://doi.org/10.1074/jbc.M200974200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11973334">Yasukawa et al. (2002)</a> reported an unusual Japanese family with EBS and 2 mutations in the KRT5 gene, resulting in phenotypic variability. The proband was a man with classic generalized EBS, diagnosed as Koebner type, manifest as blistering of the trunk and extremities, improvement with age, and cytolysis within basal keratinocytes on biopsy. Genetic analysis identified compound heterozygosity for the E170K (<a href="/entry/148040#0020">148040.0020</a>) and E418K (<a href="/entry/148040#0021">148040.0021</a>) mutations in the KRT5 gene. His paternal uncle, who had blisters restricted to the palms and soles consistent with localized EBS, was heterozygous for the E170K mutation. The proband's deceased father and paternal grandmother, who were putatively heterozygous for the E170K mutation, also reportedly had localized blistering of the hands and feet. In contrast, 2 unaffected family members were heterozygous for the E418K substitution, implying that it is not pathogenic in isolation. In vitro functional expression studies showed that cells transfected with either mutation developed small ball-like filament aggregates, indicating a disruption of the keratin network, although the effect was more pronounced for the E170K mutation. Expression of both mutant proteins exacerbated the clumping and resulted in significantly more disruption than either alone. These findings were consistent with the marked phenotypic and genotypic variability observed in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11973334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Oldak, M., Szczecinska, W., Przybylska, D., Maksym, R. B., Podgorska, M., Wozniak, K., Ploski, R., Kowalewski, C. <strong>Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex.</strong> J. Derm. Sci. 61: 64-67, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21144712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21144712</a>] [<a href="https://doi.org/10.1016/j.jdermsci.2010.11.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21144712">Oldak et al. (2011)</a> reported a clinically heterogeneous EBS family with the E170K mutation in the KRT5 gene. The proband was a 10-year-old girl who had widespread skin fragility and blistering from birth at sites of minor mechanical trauma. Blistering improved slightly with age, but severe blisters continued to form on the hands and feet, and occasionally on trunk and neck. She was diagnosed with EBS Koebner type (generalized intermediate). Her parents had blisters restricted to soles of the feet since their teenage years after extensive walking; they were diagnosed with localized EBS. The mother's deceased father and uncle also had foot blisters after walking. The patient's 13-year-old sister reported no symptoms. The E170K mutation was found in homozygosity in the proband, and in heterozygosity in her parents and sister. <a href="#10" class="mim-tip-reference" title="Oldak, M., Szczecinska, W., Przybylska, D., Maksym, R. B., Podgorska, M., Wozniak, K., Ploski, R., Kowalewski, C. <strong>Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex.</strong> J. Derm. Sci. 61: 64-67, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21144712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21144712</a>] [<a href="https://doi.org/10.1016/j.jdermsci.2010.11.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21144712">Oldak et al. (2011)</a> concluded that, together with the findings of <a href="#13" class="mim-tip-reference" title="Yasukawa, K., Sawamura, D., McMillan, J. R., Nakamura, H., Shimizu, H. <strong>Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.</strong> J. Biol. Chem. 277: 23670-23674, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11973334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11973334</a>] [<a href="https://doi.org/10.1074/jbc.M200974200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11973334">Yasukawa et al. (2002)</a>, the KRT5 E170K mutation alone causes a mild phenotype, and exhibits a gene dosage effect consistent with the phenomenon of 'partial dominance.' <a href="#10" class="mim-tip-reference" title="Oldak, M., Szczecinska, W., Przybylska, D., Maksym, R. B., Podgorska, M., Wozniak, K., Ploski, R., Kowalewski, C. <strong>Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex.</strong> J. Derm. Sci. 61: 64-67, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21144712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21144712</a>] [<a href="https://doi.org/10.1016/j.jdermsci.2010.11.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21144712">Oldak et al. (2011)</a> noted that partial dominance had also been reported with the KRT14 mutation M119I (<a href="/entry/148066#0010">148066.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11973334+21144712" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Gonzalez-Cantero, A., Sanchez-Moya, A. I., Perez-Hortet, C., Martinez-Lorenzo, E., Gomez-Dorado, B., Schoendorff-Ortega, C. <strong>'Nails only' phenotype and partial dominance of p.glu170lys mutation in a family with epidermolysis bullosa simplex.</strong> Pediat. Derm. 34: e205-e206, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28425111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28425111</a>] [<a href="https://doi.org/10.1111/pde.13146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28425111">Gonzalez-Cantero et al. (2017)</a> reported a family in which the proband was a 7-year-old girl who had blisters and erosions from birth on palms, soles, and other trauma-prone sites. Isolated blisters were present on the trunk and neck, as well as mildly dystrophic toenails, micronychia of the little finger, and horizontal ridging consistent with onychomadesis of the other toenails. Her parents had no blisters or erosions but had mildly dystrophic toenails, micronychia and thickening of the nail plate of the second toe, and horizontal ridging of the great toenail. Mutation analysis detected homozygosity for the E170K KRT5 mutation in the daughter and heterozygosity in the parents. <a href="#6" class="mim-tip-reference" title="Gonzalez-Cantero, A., Sanchez-Moya, A. I., Perez-Hortet, C., Martinez-Lorenzo, E., Gomez-Dorado, B., Schoendorff-Ortega, C. <strong>'Nails only' phenotype and partial dominance of p.glu170lys mutation in a family with epidermolysis bullosa simplex.</strong> Pediat. Derm. 34: e205-e206, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28425111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28425111</a>] [<a href="https://doi.org/10.1111/pde.13146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28425111">Gonzalez-Cantero et al. (2017)</a> noted that the E170K mutation exhibits 'partial dominance.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28425111" 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="Vahidnezhad, H., Youssefian, L., Daneshpazhooh, M., Mahmoudi, H., Kariminejad, A., Fischer, J., Christiansen, J., Schneider, H., Guy, A., Liu, L., McGrath, J. A., Has, C., Uitto, J. <strong>Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 'knock-out'.</strong> Matrix Biol. 83: 48-59, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31302245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31302245</a>] [<a href="https://doi.org/10.1016/j.matbio.2019.07.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31302245">Vahidnezhad et al. (2019)</a> reported a 32-year-old woman from a consanguineous family (family 1) of Iranian origin with Kurdish ethnicity who had trauma-induced blistering and erosions noted a few days after birth. Blisters were multiple and widespread and were particularly severe on the plantar aspects of the feet, accompanied by plantar keratoderma. Nail dystrophy with subungual bullae leading to nail loss was also present. There was mucosal involvement including all areas of oral mucosa including the tongue. Although the parents were described as 'clinically unaffected,' they were noted to have mild blistering of the feet after strenuous and prolonged walking, and showed evidence of perturbed intermediate filament assembly in basal keratinocytes on electron microscopy. The proband was homozygous for the KRT5 E170K mutation, which was carried in heterozygosity by each of her parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31302245" 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="#8" class="mim-tip-reference" title="Kim, E. N., Harris, A. G., Bingham, L. J., Yan, W., Su, J. C., Murrell, D. F. <strong>A review of 52 pedigrees with epidermolysis bullosa simplex identifying ten novel mutations in KRT5 and KRT14 in australia.</strong> Acta Derm. Venereol. 97: 1114-1119, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28561874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28561874</a>] [<a href="https://doi.org/10.2340/00015555-2715" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28561874">Kim et al. (2017)</a> screened 52 Australian patients with EBS for mutations in the KRT5 and KRT14 genes and identified 32 different mutations in 39 pedigrees. The authors found that mutations causing localized EBS occurred sporadically across the KRT5 and KRT14 peptides. Mutations resulting in generalized severe EBS were most commonly clustered at the helix boundary motifs, the helix initiation (HIP) and termination (HTP) regions, which are critical for normal keratin formation. In most other cases phenotypes correlated with the location of the mutations and were in agreement with previous reports. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28561874" 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="#Bonifas1991" class="mim-tip-reference" title="Bonifas, J. M., Rothman, A. L., Epstein, E., Jr. <strong>Linkage of epidermolysis bullosa simplex to probes in the region of keratin gene clusters on chromosomes 12q and 17q. (Abstract)</strong> Clin. Res. 39: 503A only, 1991.">Bonifas et al. (1991)</a>
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Bonifas, J. M., Rothman, A. L., Epstein, E. H., Jr.
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<strong>Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.</strong>
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Science 254: 1202-1205, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1720261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1720261</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1720261" 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/10.1126/science.1720261" target="_blank">Full Text</a>]
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Bonifas, J. M., Rothman, A. L., Epstein, E., Jr.
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<strong>Linkage of epidermolysis bullosa simplex to probes in the region of keratin gene clusters on chromosomes 12q and 17q. (Abstract)</strong>
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Clin. Res. 39: 503A only, 1991.
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Chan, Y., Yu, Q.-C., LeBlanc-Straceski, J., Christiano, A., Pulkkinen, L., Kucherlapati, R. S., Uitto, J., Fuchs, E.
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<strong>Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.</strong>
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J. Cell Sci. 107: 765-774, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7520042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7520042</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7520042" 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/10.1242/jcs.107.4.765" target="_blank">Full Text</a>]
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Chan, Y.-M., Yu, Q.-C., Fine, J.-D., Fuchs, E.
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<strong>The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.</strong>
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Proc. Nat. Acad. Sci. 90: 7414-7418, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7688477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7688477</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7688477" 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.90.15.7414" target="_blank">Full Text</a>]
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Ehrlich, P., Sybert, V. P., Spencer, A., Stephens, K.
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<strong>A common keratin 5 gene mutation in epidermolysis bullosa simplex: Weber-Cockayne.</strong>
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J. Invest. Derm. 104: 877-879, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7537780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7537780</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7537780" 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/10.1111/1523-1747.ep12607050" target="_blank">Full Text</a>]
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Gonzalez-Cantero, A., Sanchez-Moya, A. I., Perez-Hortet, C., Martinez-Lorenzo, E., Gomez-Dorado, B., Schoendorff-Ortega, C.
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<strong>'Nails only' phenotype and partial dominance of p.glu170lys mutation in a family with epidermolysis bullosa simplex.</strong>
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Pediat. Derm. 34: e205-e206, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28425111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28425111</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28425111" 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.13146" target="_blank">Full Text</a>]
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Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., and 10 others.
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<strong>Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.</strong>
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Brit. J. Derm. 183: 614-627, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32017015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32017015</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32017015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/bjd.18921" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Kim2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kim, E. N., Harris, A. G., Bingham, L. J., Yan, W., Su, J. C., Murrell, D. F.
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|
<strong>A review of 52 pedigrees with epidermolysis bullosa simplex identifying ten novel mutations in KRT5 and KRT14 in australia.</strong>
|
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Acta Derm. Venereol. 97: 1114-1119, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28561874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28561874</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28561874" 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/10.2340/00015555-2715" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="McKenna1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McKenna, K. E., Hughes, A. E., Bingham, E. A., Nevin, N. C.
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|
<strong>Linkage of epidermolysis bullosa simplex to keratin gene loci.</strong>
|
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J. Med. Genet. 29: 568-570, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1381443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1381443</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1381443" 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/10.1136/jmg.29.8.568" target="_blank">Full Text</a>]
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Oldak2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Oldak, M., Szczecinska, W., Przybylska, D., Maksym, R. B., Podgorska, M., Wozniak, K., Ploski, R., Kowalewski, C.
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<strong>Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex.</strong>
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J. Derm. Sci. 61: 64-67, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21144712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21144712</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21144712" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.jdermsci.2010.11.002" target="_blank">Full Text</a>]
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Pfendner2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pfendner, E. G., Sadowski, S. G., Uitto, J.
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<strong>Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis.</strong>
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J. Invest. Derm. 125: 239-243, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16098032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16098032</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16098032" 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/j.0022-202X.2005.23818.x" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Vahidnezhad2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vahidnezhad, H., Youssefian, L., Daneshpazhooh, M., Mahmoudi, H., Kariminejad, A., Fischer, J., Christiansen, J., Schneider, H., Guy, A., Liu, L., McGrath, J. A., Has, C., Uitto, J.
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<strong>Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 'knock-out'.</strong>
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Matrix Biol. 83: 48-59, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31302245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31302245</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31302245" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.matbio.2019.07.002" target="_blank">Full Text</a>]
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Yasukawa2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yasukawa, K., Sawamura, D., McMillan, J. R., Nakamura, H., Shimizu, H.
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<strong>Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.</strong>
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J. Biol. Chem. 277: 23670-23674, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11973334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11973334</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11973334" 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.M200974200" target="_blank">Full Text</a>]
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</ol>
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<span class="mim-text-font">
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Contributors:
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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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Anne M. Stumpf - updated : 11/11/2021
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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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Anne M. Stumpf : 10/27/2021
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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<div 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 : 06/24/2024
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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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alopez : 11/11/2021<br>alopez : 11/01/2021<br>alopez : 10/28/2021<br>alopez : 10/27/2021<br>alopez : 10/27/2021<br>alopez : 10/27/2021
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</span>
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<span class="mim-font">
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<strong>#</strong> 619594
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<div>
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<h3>
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<span class="mim-font">
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EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C
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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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<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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EPIDERMOLYSIS BULLOSA SIMPLEX 2C, WEBER-COCKAYNE TYPE
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</span>
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</div>
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<br />
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 79400;
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene 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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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</tr>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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12q13.13
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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 2C, localized
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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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619594
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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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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<td>
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<span class="mim-font">
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KRT5
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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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148040
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</span>
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</td>
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</tbody>
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</table>
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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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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because localized epidermolysis bullosa-2C (EBS2C) is caused by heterozygous mutation in the KRT5 gene (148040) on chromosome 12q13.</p><p>Another form of localized EBS, EBS1C (131800), is caused by mutation in the KRT14 gene (148066).</p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Localized epidermolysis bullosa simplex-2C (EBS2C) is an autosomal dominant skin disorder with intraepidermal blistering after minor trauma mainly restricted to hands and feet beginning in infancy. Nails may be thick and dystrophic (summary by Has et al., 2020). Localized epidermolysis bullosa simplex has previously been known as the Weber-Cockayne type. </p><p>For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760).</p><p><strong><em>Reviews</em></strong></p><p>
|
|
Has et al. (2020) reviewed characteristic features and molecular bases of the subtypes of epidermolysis bullosa, and provided a consensus reclassification of disorders with skin fragility. </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>Clinical Features</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>Chan et al. (1993) studied 2 unrelated multigenerational families with EBS Weber-Cockayne type who carried mutations in the KRT5 gene. Affected family members had mild blistering of palmar and plantar skin upon physical trauma. Ultrastructural examination revealed features typical of EBS, including vacuoles and wavy tonofilament aggregates in basal cells. </p><p>Yasukawa et al. (2002), Oldak et al. (2011), Gonzalez-Cantero et al. (2017), and Vahidnezhad et al. (2019) described individuals with mild localized EBS phenotypes who were heterozygous for an E170K mutation in the KRT5 gene; these individuals had family members carrying the E170K mutation in either compound heterozygosity or homozygosity who had a more severe phenotype. See MOLECULAR GENETICS. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In an American family of Northern European ancestry (EBS-WC-Fo), Bonifas et al. (1991) found linkage of the Weber-Cockayne form of EBS to markers D12S14 and D12S17, loci that map physically very near the keratin-5 gene on chromosome 12. </p><p>The genetic heterogeneity of the Weber-Cockayne form of EBS was indicated by the findings of McKenna et al. (1992) in 2 families: 1 family showed linkage to markers on chromosome 17 flanking the keratin-14 gene and was excluded from linkage to markers on chromosome 12 flanking the keratin-5 gene. A second family showed linkage to the region containing the keratin 5 gene and was excluded from linkage to the keratin-14 gene. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Inheritance</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 transmission pattern of EBS2C in the families reported by Chan et al. (1993) was consistent with autosomal dominant inheritance. </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>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of 2 unrelated families with Weber-Cockayne EBS, Chan et al. (1993) identified a heterozygous mutation in the K5 gene (I161S; 148040.0003). Ehrlich et al. (1995) identified the I161S mutation in 6 of 13 families with the Weber-Cockayne type of EB simplex. The high frequency of this mutation suggested either a hotspot or founder effect. </p><p>Chan et al. (1994) identified mutations in the K5 gene (148040.0004; 148040.0005) in patients with Weber-Cockayne EBS. </p><p>Pfendner et al. (2005) identified a heterozygous KRT5 mutation (I161S; 148040.0003) in a patient with blistering of the hands and feet. The patient's affected mother carried the same mutation. </p><p><strong><em>E170K Mutation</em></strong></p><p>
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Yasukawa et al. (2002) reported an unusual Japanese family with EBS and 2 mutations in the KRT5 gene, resulting in phenotypic variability. The proband was a man with classic generalized EBS, diagnosed as Koebner type, manifest as blistering of the trunk and extremities, improvement with age, and cytolysis within basal keratinocytes on biopsy. Genetic analysis identified compound heterozygosity for the E170K (148040.0020) and E418K (148040.0021) mutations in the KRT5 gene. His paternal uncle, who had blisters restricted to the palms and soles consistent with localized EBS, was heterozygous for the E170K mutation. The proband's deceased father and paternal grandmother, who were putatively heterozygous for the E170K mutation, also reportedly had localized blistering of the hands and feet. In contrast, 2 unaffected family members were heterozygous for the E418K substitution, implying that it is not pathogenic in isolation. In vitro functional expression studies showed that cells transfected with either mutation developed small ball-like filament aggregates, indicating a disruption of the keratin network, although the effect was more pronounced for the E170K mutation. Expression of both mutant proteins exacerbated the clumping and resulted in significantly more disruption than either alone. These findings were consistent with the marked phenotypic and genotypic variability observed in this family. </p><p>Oldak et al. (2011) reported a clinically heterogeneous EBS family with the E170K mutation in the KRT5 gene. The proband was a 10-year-old girl who had widespread skin fragility and blistering from birth at sites of minor mechanical trauma. Blistering improved slightly with age, but severe blisters continued to form on the hands and feet, and occasionally on trunk and neck. She was diagnosed with EBS Koebner type (generalized intermediate). Her parents had blisters restricted to soles of the feet since their teenage years after extensive walking; they were diagnosed with localized EBS. The mother's deceased father and uncle also had foot blisters after walking. The patient's 13-year-old sister reported no symptoms. The E170K mutation was found in homozygosity in the proband, and in heterozygosity in her parents and sister. Oldak et al. (2011) concluded that, together with the findings of Yasukawa et al. (2002), the KRT5 E170K mutation alone causes a mild phenotype, and exhibits a gene dosage effect consistent with the phenomenon of 'partial dominance.' Oldak et al. (2011) noted that partial dominance had also been reported with the KRT14 mutation M119I (148066.0010). </p><p>Gonzalez-Cantero et al. (2017) reported a family in which the proband was a 7-year-old girl who had blisters and erosions from birth on palms, soles, and other trauma-prone sites. Isolated blisters were present on the trunk and neck, as well as mildly dystrophic toenails, micronychia of the little finger, and horizontal ridging consistent with onychomadesis of the other toenails. Her parents had no blisters or erosions but had mildly dystrophic toenails, micronychia and thickening of the nail plate of the second toe, and horizontal ridging of the great toenail. Mutation analysis detected homozygosity for the E170K KRT5 mutation in the daughter and heterozygosity in the parents. Gonzalez-Cantero et al. (2017) noted that the E170K mutation exhibits 'partial dominance.' </p><p>Vahidnezhad et al. (2019) reported a 32-year-old woman from a consanguineous family (family 1) of Iranian origin with Kurdish ethnicity who had trauma-induced blistering and erosions noted a few days after birth. Blisters were multiple and widespread and were particularly severe on the plantar aspects of the feet, accompanied by plantar keratoderma. Nail dystrophy with subungual bullae leading to nail loss was also present. There was mucosal involvement including all areas of oral mucosa including the tongue. Although the parents were described as 'clinically unaffected,' they were noted to have mild blistering of the feet after strenuous and prolonged walking, and showed evidence of perturbed intermediate filament assembly in basal keratinocytes on electron microscopy. The proband was homozygous for the KRT5 E170K mutation, which was carried in heterozygosity by each of her parents. </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>Kim et al. (2017) screened 52 Australian patients with EBS for mutations in the KRT5 and KRT14 genes and identified 32 different mutations in 39 pedigrees. The authors found that mutations causing localized EBS occurred sporadically across the KRT5 and KRT14 peptides. Mutations resulting in generalized severe EBS were most commonly clustered at the helix boundary motifs, the helix initiation (HIP) and termination (HTP) regions, which are critical for normal keratin formation. In most other cases phenotypes correlated with the location of the mutations and were in agreement with previous reports. </p>
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<strong>See Also:</strong>
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<span class="mim-text-font">
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Bonifas et al. (1991)
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<strong>REFERENCES</strong>
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Bonifas, J. M., Rothman, A. L., Epstein, E., Jr.
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<strong>Linkage of epidermolysis bullosa simplex to probes in the region of keratin gene clusters on chromosomes 12q and 17q. (Abstract)</strong>
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Chan, Y.-M., Yu, Q.-C., Fine, J.-D., Fuchs, E.
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Ehrlich, P., Sybert, V. P., Spencer, A., Stephens, K.
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Gonzalez-Cantero, A., Sanchez-Moya, A. I., Perez-Hortet, C., Martinez-Lorenzo, E., Gomez-Dorado, B., Schoendorff-Ortega, C.
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Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., and 10 others.
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<strong>Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.</strong>
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<strong>A review of 52 pedigrees with epidermolysis bullosa simplex identifying ten novel mutations in KRT5 and KRT14 in australia.</strong>
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McKenna, K. E., Hughes, A. E., Bingham, E. A., Nevin, N. C.
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<strong>Linkage of epidermolysis bullosa simplex to keratin gene loci.</strong>
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[Full Text: https://doi.org/10.1136/jmg.29.8.568]
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Oldak, M., Szczecinska, W., Przybylska, D., Maksym, R. B., Podgorska, M., Wozniak, K., Ploski, R., Kowalewski, C.
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<strong>Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex.</strong>
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Pfendner, E. G., Sadowski, S. G., Uitto, J.
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<strong>Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis.</strong>
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Vahidnezhad, H., Youssefian, L., Daneshpazhooh, M., Mahmoudi, H., Kariminejad, A., Fischer, J., Christiansen, J., Schneider, H., Guy, A., Liu, L., McGrath, J. A., Has, C., Uitto, J.
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<strong>Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 'knock-out'.</strong>
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Yasukawa, K., Sawamura, D., McMillan, J. R., Nakamura, H., Shimizu, H.
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<strong>Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.</strong>
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[PubMed: 11973334]
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