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Entry
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- *148066 - KERATIN 14, TYPE I; KRT14
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- OMIM
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<p>
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<span class="h4">*148066</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#history">History</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/148066">Table View</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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000186847;t=ENST00000167586" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=3861" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=148066" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000186847;t=ENST00000167586" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000526" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000526" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=148066" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=01017&isoform_id=01017_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/KRT14" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/177139,386848,6118240,6118241,6118242,6118243,6118244,6118245,12803709,17512236,27769301,30583211,63100331,119581149,119581150,119581151,119581152,229463044,1519244669" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P02533" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=3861" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000186847;t=ENST00000167586" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=KRT14" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=KRT14" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+3861" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/KRT14" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:3861" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3861" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr17&hgg_gene=ENST00000167586.7&hgg_start=41582279&hgg_end=41586895&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/krt14" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=148066[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=148066[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000186847" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=KRT14" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=KRT14" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=KRT14&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA30203" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:6416" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:96688" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/KRT14#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:96688" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3861/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002281/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=3861" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3861" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=KRT14&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 239084001, 239088003, 254179000, 294705005<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
148066
|
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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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KERATIN 14, TYPE I; KRT14
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</span>
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
K14<br />
|
|
KA14
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=KRT14" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">KRT14</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/17/549?start=-3&limit=10&highlight=549">17q21.2</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:41582279-41586895&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">17:41,582,279-41,586,895</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=125595,131760,131900,131800,601001,161000" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="6">
|
|
<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">
|
|
Dermatopathia pigmentosa reticularis
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/125595"> 125595 </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>
|
|
|
|
|
|
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|
|
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|
|
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|
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|
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|
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</tr>
|
|
|
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|
|
|
|
|
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Epidermolysis bullosa simplex 1A, generalized severe
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/131760"> 131760 </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>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Epidermolysis bullosa simplex 1B, generalized intermediate
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/131900"> 131900 </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>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Epidermolysis bullosa simplex 1C, localized
|
|
|
|
</span>
|
|
</td>
|
|
<td>
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PheneGene Graphics <span class="caret"></span>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>KRT14 belongs to a large group of acidic type I keratins that interact with basic type II keratins to form the 8-nm cytoskeletal filaments of epithelial cells. Both type I and type II keratins have a central alpha-helical domain of over 300 amino acids that mediates keratin interaction. KRT14 is expressed in the basal layer of stratified squamous epithelia, including epidermis (summary by <a href="#1" class="mim-tip-reference" title="Albers, K., Fuchs, E. <strong>The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines.</strong> J. Cell Biol. 105: 791-806, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2442174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2442174</a>] [<a href="https://doi.org/10.1083/jcb.105.2.791" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2442174">Albers and Fuchs (1987)</a> and <a href="#34" class="mim-tip-reference" title="Rosenberg, M., RayChaudhury, A., Shows, T. B., Le Beau, M. M., Fuchs, E. <strong>A group of type I keratin genes on human chromosome 17: characterization and expression.</strong> Molec. Cell. Biol. 8: 722-736, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2451124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2451124</a>] [<a href="https://doi.org/10.1128/mcb.8.2.722-736.1988" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2451124">Rosenberg et al. (1988)</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2451124+2442174" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Albers, K., Fuchs, E. <strong>The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines.</strong> J. Cell Biol. 105: 791-806, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2442174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2442174</a>] [<a href="https://doi.org/10.1083/jcb.105.2.791" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2442174">Albers and Fuchs (1987)</a> constructed a complete human K14 cDNA using a partial cDNA isolated by <a href="#14" class="mim-tip-reference" title="Hanukoglu, I., Fuchs, E. <strong>The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins.</strong> Cell 31: 243-252, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6186381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6186381</a>] [<a href="https://doi.org/10.1016/0092-8674(82)90424-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6186381">Hanukoglu and Fuchs (1982)</a> and a genomic clone described by Marchuk et al. (<a href="#27" class="mim-tip-reference" title="Marchuk, D., McCrohon, S., Fuchs, E. <strong>Remarkable conservation of structure among intermediate filament genes.</strong> Cell 39: 491-498, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6210150/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6210150</a>] [<a href="https://doi.org/10.1016/0092-8674(84)90456-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6210150">1984</a>, <a href="#28" class="mim-tip-reference" title="Marchuk, D., McCrohon, S., Fuchs, E. <strong>Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene.</strong> Proc. Nat. Acad. Sci. 82: 1609-1613, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2580298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2580298</a>] [<a href="https://doi.org/10.1073/pnas.82.6.1609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2580298">1985</a>). The deduced 472-amino acid protein has an N-terminal domain, 4 helical domains, and a short C-terminal tail. Helical domain-4 has a highly conserved sequence (TYRRLLEGE) found in nearly all intermediate filament proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2580298+6186381+6210150+2442174" 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="#34" class="mim-tip-reference" title="Rosenberg, M., RayChaudhury, A., Shows, T. B., Le Beau, M. M., Fuchs, E. <strong>A group of type I keratin genes on human chromosome 17: characterization and expression.</strong> Molec. Cell. Biol. 8: 722-736, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2451124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2451124</a>] [<a href="https://doi.org/10.1128/mcb.8.2.722-736.1988" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2451124">Rosenberg et al. (1988)</a> mapped the keratin-14 gene to chromosome 17. <a href="#33" class="mim-tip-reference" title="Rosenberg, M., Fuchs, E., Le Beau, M. M., Eddy, R. L., Shows, T. B. <strong>Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12.</strong> Cytogenet. Cell Genet. 57: 33-38, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1713141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1713141</a>] [<a href="https://doi.org/10.1159/000133109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1713141">Rosenberg et al. (1991)</a> stated that the KRT14 and KRT16 (<a href="/entry/148067">148067</a>) genes, as well as a yet-unidentified keratin gene, had been localized to chromosome 17q12-q21. Another cluster of genes located at chromosome 17p12-p11 contained a nonfunctional gene for KRT16 and 2 genes for KRT14, at least 1 of which was found to be a pseudogene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1713141+2451124" 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="#30" class="mim-tip-reference" title="Milisavljevic, V., Freedberg, I. M., Blumenberg, M. <strong>Close linkage of the two keratin gene clusters in the human genome.</strong> Genomics 34: 134-138, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661035</a>] [<a href="https://doi.org/10.1006/geno.1996.0252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8661035">Milisavljevic et al. (1996)</a> analyzed P1 clones containing multiple acidic keratin genes using restriction analysis and Southern blot hybridization with PCR-amplified probes specific for functional human keratin genes 15 (<a href="/entry/148030">148030</a>), 17 (<a href="/entry/148069">148069</a>), and 19 (<a href="/entry/148020">148020</a>). Their results showed that there are 2 clusters of acidic keratin loci on chromosome 17q12-q21, very closely linked to each other within a 55-kb region. The genes were organized 5-prime to 3-prime in the following order: K19--K15--K17--K16--K14. Between K15 and K17 at least 1 additional, unidentified keratin gene was present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8661035" 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>PtK2 potoroo kidney epithelial cells express only the type I keratin K18 (<a href="/entry/148070">148070</a>) and the type II keratin K8 (<a href="/entry/148060">148060</a>). <a href="#1" class="mim-tip-reference" title="Albers, K., Fuchs, E. <strong>The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines.</strong> J. Cell Biol. 105: 791-806, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2442174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2442174</a>] [<a href="https://doi.org/10.1083/jcb.105.2.791" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2442174">Albers and Fuchs (1987)</a> showed that epitope-tagged human K14 was incorporated into endogenous keratin filaments along with K18 and K8 in PtK2 cells. Truncation of K14 after helical domain-4 had no effect on incorporation of K14 into filaments. However, progressive truncation of K14 within helix-4 resulted in a correspondingly progressive disruption of filament structure and accumulation of the truncated protein into cytoplasmic aggregates. The integrity of all other cytoskeletal structures remained intact. <a href="#1" class="mim-tip-reference" title="Albers, K., Fuchs, E. <strong>The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines.</strong> J. Cell Biol. 105: 791-806, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2442174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2442174</a>] [<a href="https://doi.org/10.1083/jcb.105.2.791" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2442174">Albers and Fuchs (1987)</a> concluded that the mutant protein both interfered with the formation of new keratin filaments and disrupted the existing keratin cytoskeleton. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2442174" 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="#24" class="mim-tip-reference" title="Langbein, L., Rogers, M. A., Praetzel, S., Cribier, B., Peltre, B., Gassler, N., Schweizer, J. <strong>Characterization of a novel human type II epithelial keratin K1b, specifically expressed in eccrine sweat glands.</strong> J. Invest. Derm. 125: 428-444, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16117782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16117782</a>] [<a href="https://doi.org/10.1111/j.0022-202X.2005.23860.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16117782">Langbein et al. (2005)</a> examined the expression of several keratins in eccrine sweat gland and in plantar epidermis. In the sweat gland, KRT14 was expressed in lower portions of the duct and in the deeper secretory region of the gland, but not in the superficial region. In plantar epidermis, KRT14 was expressed only in the basal layer and in part of the lower suprabasal layer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16117782" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In mice, <a href="#42" class="mim-tip-reference" title="Takeo, M., Chou, W. C., Sun, Q., Lee, W., Rabbani, P., Loomis, C., Taketo, M. M., Ito, M. <strong>Wnt activation in nail epithelium couples nail growth to digit regeneration.</strong> Nature 499: 228-232, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23760480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23760480</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23760480[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature12214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23760480">Takeo et al. (2013)</a> showed that nail stem cells (NSCs) reside in the proximal nail matrix and are defined by high expression of keratin-14, keratin-17, and KI67 (MKI67; <a href="/entry/176741">176741</a>). The mechanisms governing NSC differentiation are coupled directly to their ability to orchestrate digit regeneration. Early nail progenitors undergo Wnt (see <a href="/entry/164820">164820</a>)-dependent differentiation into the nail. After amputation, this Wnt activation is required for nail regeneration and also for attracting nerves that promote mesenchymal blastema growth, leading to the regeneration of the digit. Amputations proximal to the Wnt-active nail progenitors result in failure to regenerate the nail or digit. Nevertheless, beta-catenin (<a href="/entry/116806">116806</a>) stabilization in the NSC region induced their regeneration. <a href="#42" class="mim-tip-reference" title="Takeo, M., Chou, W. C., Sun, Q., Lee, W., Rabbani, P., Loomis, C., Taketo, M. M., Ito, M. <strong>Wnt activation in nail epithelium couples nail growth to digit regeneration.</strong> Nature 499: 228-232, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23760480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23760480</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23760480[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature12214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23760480">Takeo et al. (2013)</a> concluded that their results established a link between nail stem cell differentiation and digit regeneration, and suggested that NSCs may have the potential to contribute to the development of novel treatments for amputees. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23760480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Epidermolysis Bullosa Simplex</em></strong></p><p>
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In a family with at least 16 affected individuals in 5 generations with localized epidermolysis bullosa simplex (EBS1C; <a href="/entry/131800">131800</a>), <a href="#7" class="mim-tip-reference" title="Chen, M. A., Bonifas, J. M., Matsumura, K., Blumenfeld, A., Epstein, E. H., Jr. <strong>A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delE375.</strong> Hum. Molec. Genet. 2: 1971-1972, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7506606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7506606</a>] [<a href="https://doi.org/10.1093/hmg/2.11.1971" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7506606">Chen et al. (1993)</a> identified a heterozygous mutation in the KRT14 gene (<a href="#0005">148066.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7506606" 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>Although all previous mutations identified in the KRT14 and KRT5 genes behaved as dominant-negatives with an autosomal dominant pattern of the clinical disorder, <a href="#16" class="mim-tip-reference" title="Hovnanian, A., Pollack, E., Hilal, L., Rochat, A., Prost, C., Barrandon, Y., Goossens, M. <strong>A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.</strong> Nature Genet. 3: 327-331, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7526933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7526933</a>] [<a href="https://doi.org/10.1038/ng0493-327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7526933">Hovnanian et al. (1993)</a> described a French family in which 2 children with unaffected first-cousin parents had EB simplex (EBS1D; <a href="/entry/601001">601001</a>) and homozygosity for a glu144-to-ala mutation (<a href="#0004">148066.0004</a>) which was present in heterozygous state in both parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7526933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large 3-generation Irish family (TCDG) with the Koebner form of EBS (EBS1B; <a href="/entry/131900">131900</a>), <a href="#20" class="mim-tip-reference" title="Humphries, M. M., Sheils, D. M., Farrar, G. J., Kumar-Singh, R., Kenna, P. F., Mansergh, F. C., Jordan, S. A., Young, M., Humphries, P. <strong>A mutation (met-to-arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.</strong> Hum. Mutat. 2: 37-42, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7682883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7682883</a>] [<a href="https://doi.org/10.1002/humu.1380020107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7682883">Humphries et al. (1993)</a> identified heterozygosity for a missense mutation in the KRT14 gene (M272R; <a href="#0007">148066.0007</a>). <a href="#18" class="mim-tip-reference" title="Humphries, M. M., Mansergh, F. C., Kiang, A.-S., Jordan, S. A., Sheils, D. M., Martin, M. J., Farrar, G. J., Kenna, P. F., Young, M. M., Humphries, P. <strong>Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland.</strong> Hum. Mutat. 8: 57-63, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8807337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8807337</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)8:1<57::AID-HUMU8>3.0.CO;2-M" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8807337">Humphries et al. (1996)</a> identified 2 more large Irish families with localized EBS and missense mutations in the KRT5 gene: M327T (<a href="/entry/148040#0004">148040.0004</a>) in family TCDM, and N193K (<a href="/entry/148040#0007">148040.0007</a>) in family TCDN. Noting that they knew of no other large families with EBS in the Irish population, <a href="#18" class="mim-tip-reference" title="Humphries, M. M., Mansergh, F. C., Kiang, A.-S., Jordan, S. A., Sheils, D. M., Martin, M. J., Farrar, G. J., Kenna, P. F., Young, M. M., Humphries, P. <strong>Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland.</strong> Hum. Mutat. 8: 57-63, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8807337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8807337</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)8:1<57::AID-HUMU8>3.0.CO;2-M" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8807337">Humphries et al. (1996)</a> concluded that the M272R and N193K mutations in KRT5, together with the M272R variant in KRT14, likely accounted for most cases of dominant localized epidermolysis bullosa simplex in Ireland. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8807337+7682883" 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="#5" class="mim-tip-reference" title="Chan, Y., Anton-Lamprecht, I., Yu, Q.-C., Jackel, A., Zabel, B., Ernst, J.-P., Fuchs, E. <strong>A human keratin 14 'knockout': the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein.</strong> Genes Dev. 8: 2574-2587, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7525408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7525408</a>] [<a href="https://doi.org/10.1101/gad.8.21.2574" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7525408">Chan et al. (1994)</a> analyzed a very rare case of severe recessive epidermolysis bullosa simplex (EBS1D; <a href="/entry/601001">601001</a>) in which the patient lacked a discernible keratin filament network in basal epidermal cells. Genetic analyses demonstrated homozygosity for a point mutation in the KRT14 gene (Y204X; <a href="#0006">148066.0006</a>) that yielded a premature termination codon in the major basal type I keratin gene and caused complete ablation of KRT14. The consanguineous parents were clinically normal, each harboring 1 copy of the null KRT14 mutation. Analysis of cultured keratinocytes revealed that the loss of KRT14 was not compensated for by the upregulation of other type I keratins. Thus, the cell fragility resulted from lack of an extensive basal keratin network. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7525408" 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="Chen, H., Bonifas, J. M., Mstsumura, K., Ikeda, S., Leyden, W. A., Epstein, E. H. <strong>Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.</strong> J. Invest. Derm. 105: 629-632, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7561171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7561171</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12323846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7561171">Chen et al. (1995)</a> systematically screened genomic sequences of KRT14 for mutations in patients of 49 apparently independent EBS kindreds using SSCP analysis. Most affected individuals were identified through assistance of the National EB Registry or through DEBRA of America, a genetic support group. KRT14 mutations were found in 10 of the families. The 10 mutations were clustered at 3 sites--the ends of the helices and the L12 linker region, where previous, more limited studies had identified mutations. Early onset of blistering in these 10 families was correlated with more widespread distribution of cutaneous mutations. Those with early onset of blisters (e.g., by age 1 week) had generalized disease; those with the later onset (e.g., after several months to 2 years) had blisters predominantly at acral sites. As in other families, patients with substitution of arg125 (<a href="#0002">148066.0002</a>, <a href="#0003">148066.0003</a>) all had generalized blistering (EBS1A; <a href="/entry/131760">131760</a>). <a href="#6" class="mim-tip-reference" title="Chen, H., Bonifas, J. M., Mstsumura, K., Ikeda, S., Leyden, W. A., Epstein, E. H. <strong>Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.</strong> J. Invest. Derm. 105: 629-632, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7561171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7561171</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12323846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7561171">Chen et al. (1995)</a> reported a family with an arg125-to-ser mutation in which the proband had onset at 2 days of age. Generalized blistering was also present in a kindred with a gln120-to-arg mutation, giving onset in the first week of life. <a href="#6" class="mim-tip-reference" title="Chen, H., Bonifas, J. M., Mstsumura, K., Ikeda, S., Leyden, W. A., Epstein, E. H. <strong>Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.</strong> J. Invest. Derm. 105: 629-632, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7561171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7561171</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12323846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7561171">Chen et al. (1995)</a> stated that they were aware of formal publication of mutations in either KRT5 or KRT14 in 22 apparently independent kindreds (7 in KRT5 and 15 in KRT14). They discussed the reason that mutation was identified in only 10 of the 49 kindreds. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7561171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 3-year-old boy (family 1) with generalized severe EBS (EBS1A) and a hoarse cry, <a href="#9" class="mim-tip-reference" title="Cummins, R. E., Klingberg, S., Wesley, J., Rogers, M., Zhao, Y., Murrell, D. F. <strong>Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.</strong> J. Invest. Derm. 117: 1103-1107, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11710919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11710919</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01508.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11710919">Cummins et al. (2001)</a> identified heterozygosity for a de novo occurrence of the previously reported M119T mutation in the KRT14 gene (<a href="#0009">148066.0009</a>). In addition, the authors studied a 3-generation family with the Koebner type of EBS (EBS1B; family 2), <a href="#9" class="mim-tip-reference" title="Cummins, R. E., Klingberg, S., Wesley, J., Rogers, M., Zhao, Y., Murrell, D. F. <strong>Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.</strong> J. Invest. Derm. 117: 1103-1107, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11710919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11710919</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01508.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11710919">Cummins et al. (2001)</a> and identified heterozygosity for a missense mutation in the KRT14 gene (M119V; <a href="/entry/131760#0022">131760.0022</a>) that segregated with disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11710919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 31-year-old Japanese woman with the Koebner type of EBS, <a href="#13" class="mim-tip-reference" title="Gu, L.-H., Ichiki, Y., Sato, M., Kitajima, Y. <strong>A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex.</strong> J. Derm. 29: 136-145, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11990248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11990248</a>] [<a href="https://doi.org/10.1111/j.1346-8138.2002.tb00236.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11990248">Gu et al. (2002)</a> sequenced the KRT5 and KRT14 genes, and identified heterozygosity for a nonsense mutation in the KRT14 gene (E411X; <a href="/entry/131760#0023">131760.0023</a>). DNA was unavailable from her affected sons for analysis, but the mutation was not found in 50 unrelated control DNA samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11990248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 French boys with generalized severe EB simplex, who developed marked palmoplantar keratoderma in the first months of life, <a href="#43" class="mim-tip-reference" title="Titeux, M., Mazereeuw-Hautier, J., Hadj-Rabia, S., Prost, C., Tonasso, L., Fraitag, S., de Prost, Y., Hovnanian, A., Bodemer, C. <strong>Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene.</strong> J. Invest. Derm. 126: 773-776, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16439965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16439965</a>] [<a href="https://doi.org/10.1038/sj.jid.5700154" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16439965">Titeux et al. (2006)</a> identified heterozygosity for the recurrent M119T substitution in the KRT14 gene (<a href="#0009">148066.0009</a>), which occurred de novo in both probands. In a third French boy with severe EBS but less severe involvement of palms and soles, the authors identified a 1-bp deletion in KRT14 (<a href="#0024">148066.0024</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16439965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Scottish proband with EBS limited to the hands and feet, <a href="#35" class="mim-tip-reference" title="Rugg, E. L., Horn, H. M., Smith, F. J., Wilson, N. J., Hill, A. J. M., Magee, G. J., Shemanko, C. S., Baty, D. U., Tidman, M. J., Lane, E. B. <strong>Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.</strong> J. Invest. Derm. 127: 574-580, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17039244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17039244</a>] [<a href="https://doi.org/10.1038/sj.jid.5700571" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17039244">Rugg et al. (2007)</a> identified heterozygosity for a missense mutation in the KRT14 gene (I377T; <a href="#0021">148066.0021</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17039244" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 15-year review of all infants born with generalized severe EBS and notified to the National Health Service of the UK, <a href="#38" class="mim-tip-reference" title="Sathishkumar, D., Orrin, E., Terron-Kwiatkowski, A., Browne, F., Martinez, A. E., Mellerio, J. E., Ogboli, M., Hoey, S., Ozoemena, L., Liu, L., Baty, D., McGrath, J. A., Moss, C. <strong>The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex.</strong> J. Invest. Derm. 136: 719-721, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26743602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26743602</a>] [<a href="https://doi.org/10.1016/j.jid.2015.11.024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26743602">Sathishkumar et al. (2016)</a> identified 37 cases. Genetic analysis in 33 of those cases showed KRT5 mutations in 17, KRT14 mutations in 15, and mutations in both KRT5 and KRT14 in 1 patient. Patients who were heterozygous for KRT14 mutations included 2 with the recurrent R125C variant (<a href="#0002">148066.0002</a>), 4 with the recurrent R125H variant (<a href="#0003">148066.0003</a>), and 2 with the N123S variant (<a href="#0018">148066.0018</a>); 1 patient was heterozygous for R125H in KRT14 and an R471C variant in KRT5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26743602" 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>From a cohort of Iranian patients with clinical presentations and immunoepitope mapping suggestive of EBS, <a href="#44" class="mim-tip-reference" title="Vahidnezhad, H., Youssefian, L., Saeidian, A. H., Mozafari, N., Barzegar, M., Sotoudeh, S., Daneshpazhooh, M., Isaian, A., Zeinali, S., Uitto, J. <strong>KRT5 and KRT14 mutations in epidermolysis bullosa simplex with phenotypic heterogeneity, and evidence of semidominant inheritance in a multiplex family.</strong> J. Invest. Derm. 136: 1897-1901, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27283507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27283507</a>] [<a href="https://doi.org/10.1016/j.jid.2016.05.106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27283507">Vahidnezhad et al. (2016)</a> identified 4 families with heterozygous mutations in the KRT5 gene and 7 families with mutations in KRT14. Homozygous KRT14 variants were present in 3 families, whereas heterozygous KRT14 variants segregated in 4 families, 2 of which exhibited severe disease (see, e.g., <a href="#0020">148066.0020</a>). One of the probands with severe disease (family 7) was reported to have digenic inheritance, with a heterozygous variant in KRT5 as well as KRT14. The remaining 2 heterozygous families exhibited localized disease; in 1 of them (family 9), some affected individuals who were born of consanguineous unions exhibited more generalized lesions and were found to be homozygous for the segregating variant (I377T; <a href="#0021">148066.0021</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27283507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an Italian male infant with generalized severe EB simplex and a hoarse cry, <a href="#10" class="mim-tip-reference" title="Diociaiuti, A., Giancristoforo, S., Pisaneschi, E., Condorelli, A. G., Boldrini, R., Zambruno, G., El Hachem, M. <strong>Hoarse cry in a newborn with epidermolysis bullosa simplex, generalized severe.</strong> Pediat. Derm. 37: 393-395, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31957133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31957133</a>] [<a href="https://doi.org/10.1111/pde.14105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31957133">Diociaiuti et al. (2020)</a> identified heterozygosity for the recurrent R125C mutation in the KRT14 gene (<a href="#0002">148066.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31957133" 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>Other Disorders</em></strong></p><p>
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Naegeli-Franceschetti-Jadassohn syndrome (NFJS; <a href="/entry/161000">161000</a>) and dermatopathia pigmentosa reticularis (DPR; <a href="/entry/125595">125595</a>) are 2 closely related autosomal dominant ectodermal dysplasia syndromes that clinically share complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of skin hyperpigmentation, thickening of the palms and soles (palmoplantar keratoderma), abnormal sweating, and other subtle developmental anomalies of the teeth, hair, and skin. <a href="#25" class="mim-tip-reference" title="Lugassy, J., Itin, P., Ishida-Yamamoto, A., Holland, K., Huson, S., Geiger, D., Hennies, H. C., Indelman, M., Bercovich, D., Uitto, J., Bergman, R., McGrath, J. A., Richard, G., Sprecher, E. <strong>Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.</strong> Am. J. Hum. Genet. 79: 724-730, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960809</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960809[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/507792" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960809">Lugassy et al. (2006)</a> studied one family with DPR and 4 families with NFJS. Both disorders map to 17q11.2-q21 (<a href="#46" class="mim-tip-reference" title="Whittock, N. V., Coleman, C. M., McLean, W. H. I., Ashton, G. H. S., Acland, K. M., Eady, R. A. J., McGrath, J. A. <strong>The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21.</strong> J. Invest. Derm. 115: 694-698, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10998145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10998145</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2000.00097.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10998145">Whittock et al., 2000</a>; <a href="#41" class="mim-tip-reference" title="Sprecher, E., Itin, P., Whittock, N. V., McGrath, J. A., Meyer, R., DiGiovanna, J. J., Bale, S. J., Uitto, J., Richard, G. <strong>Refined mapping of Naegeli-Franceschetti-Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.</strong> J. Invest. Derm. 119: 692-698, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12230514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12230514</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2002.01855.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12230514">Sprecher et al., 2002</a>), which supported the suggestion that the disorders are allelic. <a href="#25" class="mim-tip-reference" title="Lugassy, J., Itin, P., Ishida-Yamamoto, A., Holland, K., Huson, S., Geiger, D., Hennies, H. C., Indelman, M., Bercovich, D., Uitto, J., Bergman, R., McGrath, J. A., Richard, G., Sprecher, E. <strong>Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.</strong> Am. J. Hum. Genet. 79: 724-730, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960809</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960809[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/507792" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960809">Lugassy et al. (2006)</a> refined the mapping of NFJS/DPR, finding a maximum lod score of 8.3 at marker D17S800 at a recombination fraction of 0.0. The disease interval was found to harbor 230 genes, including a large cluster of keratin genes. Heterozygous nonsense or frameshift mutations in KRT14 were found to segregate with the disease traits in all 5 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10998145+12230514+16960809" 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="#12" class="mim-tip-reference" title="Fuchs, E., Coulombe, P. A. <strong>Of mice and men: genetic skin diseases of keratin.</strong> Cell 69: 899-902, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1376637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1376637</a>] [<a href="https://doi.org/10.1016/0092-8674(92)90607-e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1376637">Fuchs and Coulombe (1992)</a> noted that all point mutations identified to that time in patients with epidermolysis bullosa simplex (EBS) occurred in the rod domain of either the keratin-14 or keratin-5 protein, consistent with the dominant-negative behavior of most rod domain mutations and the autosomal dominant transmission of the disorder in most EBS families. The 3 mutations resulting in the severe EBS Dowling-Meara type (2 in KRT14 and 1 in KRT5) are in the highly conserved amino or carboxyl ends of the rod domain. The KRT14 mutation in the family with the less severe Koebner type (<a href="#0001">148066.0001</a>) is in a less conserved region of the rod domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1376637" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In contrast with mutations affecting the central alpha-helical rod domain of keratin-14, which are found in association with epidermolysis bullosa simplex in its various clinical forms, NFJS/DPR-associated mutations were found in a region of the gene encoding the nonhelical head (E1/V1) domain and were found to result in very early termination of translation (<a href="#25" class="mim-tip-reference" title="Lugassy, J., Itin, P., Ishida-Yamamoto, A., Holland, K., Huson, S., Geiger, D., Hennies, H. C., Indelman, M., Bercovich, D., Uitto, J., Bergman, R., McGrath, J. A., Richard, G., Sprecher, E. <strong>Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.</strong> Am. J. Hum. Genet. 79: 724-730, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960809</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960809[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/507792" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960809">Lugassy et al., 2006</a>). The data suggested that KRT14 plays an important role during ontogenesis of dermatoglyphics and sweat glands. Among other functions, the N-terminal part of keratin molecules confers protection against proapoptotic signals. Ultrastructural examination of patient skin biopsy specimens provided evidence for increased apoptotic activity in the basal cell layer where KRT14 is expressed, suggesting that apoptosis is an important mechanism in the pathogenesis of NFJS/DPR. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16960809" 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 transgenic mice, <a href="#45" class="mim-tip-reference" title="Vassar, R., Coulombe, P. A., Degenstein, L., Albers, K., Fuchs, E. <strong>Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease.</strong> Cell 64: 365-380, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1703046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1703046</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90645-f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1703046">Vassar et al. (1991)</a> showed that a mutant KRT14 gene, which was driven by the normal human KRT14 enhancer/promoter at the 5-prime end and encoded a truncated keratin molecule lacking 135 amino acids from its carboxyl terminus, resulted in abnormalities resembling the group of genetic disorders known as epidermolysis bullosa simplex (e.g., <a href="/entry/131950">131950</a>, <a href="/entry/131900">131900</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1703046" 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 mapping studies, <a href="#29" class="mim-tip-reference" title="McAlpine, P. J. <strong>Personal Communication.</strong> Winnipeg, Manitoba, Canada 6/1990."None>McAlpine (1990)</a> used the symbols KRT14L1, KRT14L2, and KRT14L3 because of the uncertainty as to which of the hybridizing bands represent active gene(s).</p><p><a href="#34" class="mim-tip-reference" title="Rosenberg, M., RayChaudhury, A., Shows, T. B., Le Beau, M. M., Fuchs, E. <strong>A group of type I keratin genes on human chromosome 17: characterization and expression.</strong> Molec. Cell. Biol. 8: 722-736, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2451124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2451124</a>] [<a href="https://doi.org/10.1128/mcb.8.2.722-736.1988" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2451124">Rosenberg et al. (1988)</a> determined that 2 genes encoding K16 (<a href="/entry/148067">148067</a>) and 3 genes encoding K14 are clustered in 2 distinct segments of chromosome 17. The genes within each cluster were found to be tightly linked. By in situ hybridization, one cluster of genes was located at band 17p12-p11 and a second at band 17q12-q21. Small clusters of grains were also noted on the long arm of chromosome 14 at bands q31-q32 and on the long arm of chromosome 21. These may have represented sites of more distantly related keratin genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2451124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs59629244 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs59629244;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs59629244" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs59629244" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a family with generalized epidermolysis bullosa simplex of the Koebner type (EBS1B; <a href="/entry/131900">131900</a>), <a href="#3" 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> demonstrated linkage of the disorder to the gene encoding keratin-14. Further studies demonstrated a T-to-C substitution at bp 3542 in exon 6 resulting in a change of amino acid 384 from leucine to proline. The mutation created a new MspI site. It is notable that finding the particular mutation was a 'stroke of luck.' No polymorphism of the KRT14 gene was known and linkage of EBS to DNA markers in the family in question were inconclusive. <a href="#3" 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>, however, hybridized a 3-prime untranslated KRT14 probe to DNA from members of the family digested with 9 restriction endonucleases. This revealed the unique MspI restriction site change which was tightly linked to EBS in this family with a lod score of 3.0. It was found in all affected members and in no unaffected members. <a href="#45" class="mim-tip-reference" title="Vassar, R., Coulombe, P. A., Degenstein, L., Albers, K., Fuchs, E. <strong>Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease.</strong> Cell 64: 365-380, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1703046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1703046</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90645-f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1703046">Vassar et al. (1991)</a> produced basal keratinocyte fragility causing neonatal death in mice carrying a transgene encoding a shortened KRT14. The phenotype of the human disease caused by the leu384-to-pro mutation is much less severe than that caused by deletion of 135 amino acids from the KRT14 carboxyl terminus in the transgenic mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1720261+1703046" 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="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015716 OR RCV000056717 OR RCV000679886 OR RCV001807730 OR RCV002243645 OR RCV003924837" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015716, RCV000056717, RCV000679886, RCV001807730, RCV002243645, RCV003924837" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015716...</a>
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<p>Epidermolysis bullosa simplex, severe type (EBS1A; <a href="/entry/131760">131760</a>), formerly known as the Dowling-Meara type, is distinguished from other subtypes not only by its severity but also by the presence of large cytoplasmic clumps of tonofilaments that can be labeled with antibodies against the basal epidermal keratins. In 2 patients with the Dowling-Meara form, <a href="#8" class="mim-tip-reference" title="Coulombe, P. A., Hutton, M. E., Letai, A., Hebert, A., Paller, A. S., Fuchs, E. <strong>Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.</strong> Cell 66: 1301-1311, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1717157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1717157</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90051-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1717157">Coulombe et al. (1991)</a> demonstrated critical mutations in the KRT14 gene. One patient had a C-to-T transition corresponding to nucleotide 433 of the gene, converting an arginine residue (CGC) to a cysteine residue (TGC) at amino acid 125 (R125C), located near the amino end of the KRT14 rod segment. To demonstrate the effect on function, <a href="#8" class="mim-tip-reference" title="Coulombe, P. A., Hutton, M. E., Letai, A., Hebert, A., Paller, A. S., Fuchs, E. <strong>Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.</strong> Cell 66: 1301-1311, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1717157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1717157</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90051-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1717157">Coulombe et al. (1991)</a> engineered the arg125-to-cys mutation in a KRT14 cDNA and showed that this cDNA disrupted keratin network formation in transfected keratinocytes and disturbed filament assembly in vitro. Also see <a href="#0003">148066.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1717157" 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="#37" class="mim-tip-reference" title="Sasaki, Y., Shimizu, H., Akiyama, M., Hiraoka, Y., Takizawa, Y., Yamada, S., Morishima, Y., Yamanishi, K., Aiso, S., Nishikawa, T. <strong>A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex. (Letter)</strong> Brit. J. Derm. 141: 747-776, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10583131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10583131</a>] [<a href="https://doi.org/10.1046/j.1365-2133.1999.03124.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10583131">Sasaki et al. (1999)</a> reported that the arg125-to-cys mutation had been identified in 4 of 6 Japanese families with the Dowling-Meara type of EBS. They stated that 8 of 19 families with mutations in the KRT14 gene carried the arg125-to-cys mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10583131" 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="#21" class="mim-tip-reference" title="Hut, P. H. L., Vlies, P. V. D., Jonkman, M. F., Verlind, E., Shimizu, H., Buys, C. H. C. M., Scheffer, H. <strong>Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot analysis.</strong> J. Invest. Derm. 114: 616-619, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10733662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10733662</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2000.00928.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10733662">Hut et al. (2000)</a> identified a de novo heterozygous R125C mutation in 2 patients with EBS Dowling-Meara type. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10733662" 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="#26" class="mim-tip-reference" title="Ma, L., Yamada, S., Wirtz, D., Coulombe, P. A. <strong>A 'hot-spot' mutation alters the mechanical properties of keratin filament networks.</strong> Nature Cell Biol. 3: 503-506, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11331879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11331879</a>] [<a href="https://doi.org/10.1038/35074576" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11331879">Ma et al. (2001)</a> used differential interference contrast microscopy to show that the arg125-to-cys mutation in the KRT14 gene greatly reduced the ability of reconstituted mutant filaments to bundle under crosslinking conditions, possibly causing the fragility of epithelial cells seen in some keratin-based disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11331879" 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>From a cohort of 33 newborns with generalized severe EBS who were reported to the National Health Service of the UK over a 15-year period and underwent genetic analysis, <a href="#38" class="mim-tip-reference" title="Sathishkumar, D., Orrin, E., Terron-Kwiatkowski, A., Browne, F., Martinez, A. E., Mellerio, J. E., Ogboli, M., Hoey, S., Ozoemena, L., Liu, L., Baty, D., McGrath, J. A., Moss, C. <strong>The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex.</strong> J. Invest. Derm. 136: 719-721, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26743602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26743602</a>] [<a href="https://doi.org/10.1016/j.jid.2015.11.024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26743602">Sathishkumar et al. (2016)</a> identified 2 patients who were heterozygous for the R125C mutation in the KRT14 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26743602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an Italian male infant with generalized severe EB simplex and a hoarse cry with mild inspiratory stridor, <a href="#10" class="mim-tip-reference" title="Diociaiuti, A., Giancristoforo, S., Pisaneschi, E., Condorelli, A. G., Boldrini, R., Zambruno, G., El Hachem, M. <strong>Hoarse cry in a newborn with epidermolysis bullosa simplex, generalized severe.</strong> Pediat. Derm. 37: 393-395, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31957133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31957133</a>] [<a href="https://doi.org/10.1111/pde.14105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31957133">Diociaiuti et al. (2020)</a> identified heterozygosity for the recurrent R125C mutation in the KRT14 gene. The mutation arose de novo in the proband. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31957133" 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 a second patient with epidermolysis bullosa simplex of the Dowling-Meara type (EBS1A; <a href="/entry/131760">131760</a>), <a href="#8" class="mim-tip-reference" title="Coulombe, P. A., Hutton, M. E., Letai, A., Hebert, A., Paller, A. S., Fuchs, E. <strong>Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.</strong> Cell 66: 1301-1311, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1717157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1717157</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90051-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1717157">Coulombe et al. (1991)</a> demonstrated a G-to-A transition converting an arginine residue (CGC) to a histidine residue (CAC) at amino acid 125 (R125H). Also see <a href="#0002">148066.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1717157" 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>Although laryngeal involvement is generally associated with junctional forms of EB, <a href="#39" class="mim-tip-reference" title="Shemanko, C. S., Horn, H. M., Keohane, S. G., Hepburn, N., Kerr, A. I. G., Atherton, D. J., Tidman, M. J., Lane, E. B. <strong>Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.</strong> Brit. J. Derm. 142: 315-320, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10730767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10730767</a>] [<a href="https://doi.org/10.1046/j.1365-2133.2000.03304.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10730767">Shemanko et al. (2000)</a> reported 2 unrelated infants with no family history of skin disease who presented within hours of birth with extensive blistering of the skin and oral mucosa and subsequently developed hoarse cries. One had a de novo heterozygous type 14 keratin mutation (arg125 to his), consistent with a diagnosis of Dowling-Meara EBS. The other had a heterozygous type 5 keratin mutation (ser181 to pro; <a href="/entry/148040#0012">148040.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10730767" 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="#21" class="mim-tip-reference" title="Hut, P. H. L., Vlies, P. V. D., Jonkman, M. F., Verlind, E., Shimizu, H., Buys, C. H. C. M., Scheffer, H. <strong>Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot analysis.</strong> J. Invest. Derm. 114: 616-619, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10733662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10733662</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2000.00928.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10733662">Hut et al. (2000)</a> identified a de novo heterozygous R125H mutation in a patient with EBS Dowling-Meara type. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10733662" 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>From a cohort of 33 newborns with generalized severe EBS who were reported to the National Health Service of the UK over a 15-year period and underwent genetic analysis, <a href="#38" class="mim-tip-reference" title="Sathishkumar, D., Orrin, E., Terron-Kwiatkowski, A., Browne, F., Martinez, A. E., Mellerio, J. E., Ogboli, M., Hoey, S., Ozoemena, L., Liu, L., Baty, D., McGrath, J. A., Moss, C. <strong>The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex.</strong> J. Invest. Derm. 136: 719-721, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26743602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26743602</a>] [<a href="https://doi.org/10.1016/j.jid.2015.11.024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26743602">Sathishkumar et al. (2016)</a> identified 4 patients who were heterozygous for the R125H mutation in the KRT14 gene. In addition, 1 patient was heterozygous for R125H in KRT14 and an R471C variant in the KRT5 gene. Detailed clinical information was not reported for that patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26743602" 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 2 French sibs, born of consanguineous parents, with autosomal recessive epidermolysis bullosa (EBS1D; <a href="/entry/601001">601001</a>), <a href="#16" class="mim-tip-reference" title="Hovnanian, A., Pollack, E., Hilal, L., Rochat, A., Prost, C., Barrandon, Y., Goossens, M. <strong>A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.</strong> Nature Genet. 3: 327-331, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7526933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7526933</a>] [<a href="https://doi.org/10.1038/ng0493-327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7526933">Hovnanian et al. (1993)</a> identified a homozygous 491A-C transversion in the KRT14 gene, resulting in a glu144-to-ala (E144A) substitution in the first helical segment of the rod domain. The loss of an ionic interaction with keratin 5 was thought to affect KRT14-KRT5 heterodimer formation. Genetic linkage with keratin 5 was excluded. The parents were unaffected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7526933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs56974573 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs56974573;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs56974573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs56974573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015719 OR RCV000056663" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015719, RCV000056663" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015719...</a>
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<p>In a family with at least 16 affected individuals in 5 generations with localized epidermolysis bullosa simplex of the Weber-Cockayne type (EBS1C; <a href="/entry/131800">131800</a>), in which nonscarring blisters are limited to the hands and feet, <a href="#7" class="mim-tip-reference" title="Chen, M. A., Bonifas, J. M., Matsumura, K., Blumenfeld, A., Epstein, E. H., Jr. <strong>A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delE375.</strong> Hum. Molec. Genet. 2: 1971-1972, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7506606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7506606</a>] [<a href="https://doi.org/10.1093/hmg/2.11.1971" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7506606">Chen et al. (1993)</a> found deletion of 3 nucleotides in the KRT14 gene, resulting in deletion of a glutamic acid residue from the helix 2B region of the gene product. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7506606" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs60725382 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs60725382;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs60725382?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs60725382" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs60725382" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015720 OR RCV000056746" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015720, RCV000056746" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015720...</a>
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<p>In a patient with severe autosomal recessive epidermolysis bullosa simplex (EBS1D; <a href="/entry/601001">601001</a>), <a href="#5" class="mim-tip-reference" title="Chan, Y., Anton-Lamprecht, I., Yu, Q.-C., Jackel, A., Zabel, B., Ernst, J.-P., Fuchs, E. <strong>A human keratin 14 'knockout': the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein.</strong> Genes Dev. 8: 2574-2587, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7525408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7525408</a>] [<a href="https://doi.org/10.1101/gad.8.21.2574" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7525408">Chan et al. (1994)</a> identified a homozygous 612T-A transversion in the KRT14 gene, resulting in a tyr204-to-ter (Y204X) substitution. Each of the unaffected parents, who were related, was heterozygous for the mutation. Skin biopsy of the patient showed lack of a discernible keratin filament network in basal epidermal cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7525408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE</strong>
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KRT14, MET272ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs61371557 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61371557;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61371557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61371557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015721 OR RCV000056753" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015721, RCV000056753" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015721...</a>
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<p>In a large 3-generation Irish family (TCDG) with the generalized simplex (Koebner) form of epidermolysis bullosa (EBS1B; <a href="/entry/131900">131900</a>), originally reported by <a href="#19" class="mim-tip-reference" title="Humphries, M. M., Sheils, D., Lawler, M., Farrar, G. J., McWilliam, P., Kenna, P., Bradley, D. G., Sharp, E. M., Gaffney, E. F., Young, M., Uitto, J., Humphries, P. <strong>Epidermolysis bullosa: evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form.</strong> Genomics 7: 377-381, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2365356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2365356</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90171-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2365356">Humphries et al. (1990)</a> as family TCD-EBS2, <a href="#20" class="mim-tip-reference" title="Humphries, M. M., Sheils, D. M., Farrar, G. J., Kumar-Singh, R., Kenna, P. F., Mansergh, F. C., Jordan, S. A., Young, M., Humphries, P. <strong>A mutation (met-to-arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.</strong> Hum. Mutat. 2: 37-42, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7682883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7682883</a>] [<a href="https://doi.org/10.1002/humu.1380020107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7682883">Humphries et al. (1993)</a> identified a c.3028T-G transversion in the KRT14 gene, resulting in a met272-to-arg (M272R) substitution within the central rod domain in the linker region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7682883+2365356" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE</strong>
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KRT14, IVS1AS, A-C, -2
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs200779504 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200779504;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs200779504?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs200779504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs200779504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015722 OR RCV000056741" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015722, RCV000056741" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015722...</a>
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<p><a href="#23" class="mim-tip-reference" title="Jonkman, M. F., Heeres, K., Pas, H. H., van Luyn, M. J. A., Elema, J. D., Corden, L. D., Smith, F. J. D., McLean, W. H. I., Ramaekers, F. C. S., Burton, M., Scheffer, H. <strong>Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex.</strong> J. Invest. Derm. 107: 764-769, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8875963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8875963</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12365805" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8875963">Jonkman et al. (1996)</a> studied a kindred with autosomal recessive epidermolysis bullosa simplex (EBS1D; <a href="/entry/601001">601001</a>) in which affected members lacked expression of keratin-14 and showed homozygosity for a acceptor splice site mutation that resulted in skipping of exon 2 in 24% of the KRT14 transcripts and to the use of a cryptic splice site in 76% of the transcripts. Clinically the patients had severe generalized skin blistering that improved slightly with age. The basal cells of the patient did not express keratin 14 and contained no keratin intermediate filaments. The expression of keratin 5, the obligate copolymer of keratin 14, was slightly reduced. The expression of keratin 15, the alternative basal cell keratin, was increased, suggesting upregulation or stabilization to compensate for the lack of keratin 14. The expression of keratin 16, keratin 17, and keratin 19 was not different from controls. The homozygous mutation identified by <a href="#23" class="mim-tip-reference" title="Jonkman, M. F., Heeres, K., Pas, H. H., van Luyn, M. J. A., Elema, J. D., Corden, L. D., Smith, F. J. D., McLean, W. H. I., Ramaekers, F. C. S., Burton, M., Scheffer, H. <strong>Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex.</strong> J. Invest. Derm. 107: 764-769, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8875963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8875963</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12365805" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8875963">Jonkman et al. (1996)</a> was located at the 3-prime acceptor splice site of intron 1 where nucleotide 1840 showed an A-to-C transversion in the affected individuals. Premature termination codons were generated in all transcripts at either codon 175+1 or codon 175+29, leading to a keratin-14 protein truncated within the helical 1B rod domain. Heterozygous family members were unaffected. The disorder was associated with circumscribed hyperkeratotic lesions with the histology of epidermolytic hyperkeratosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8875963" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928893 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928893;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28928893" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28928893" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015723 OR RCV000056708 OR RCV004754262" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015723, RCV000056708, RCV004754262" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015723...</a>
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<p><a href="#40" class="mim-tip-reference" title="Shemanko, C. S., Mellerio, J. E., Tidman, M. J., Lane, E. B., Eady, R. A. J. <strong>Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14).</strong> J. Invest. Derm. 111: 893-895, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9804355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9804355</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1998.00388.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9804355">Shemanko et al. (1998)</a> described a heterozygous T-to-C transition in the KRT14 gene, resulting in a met119-to-thr (M119T) substitution, in a patient with an EBS Dowling-Meara phenotype (EBS1A; <a href="/entry/131760">131760</a>) with severe palmoplantar hyperkeratosis. The patient was a 41-year-old man whose case had been included previously in 2 brief reports. He had widespread skin fragility and blistering from birth. From early childhood he developed gross palmoplantar hyperkeratosis resulting in flexion contractures of the hands and considerable functional and cosmetic difficulties. The patient's sibs and parents were clinically normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9804355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 3-year-old boy (family 1) with generalized severe EBS and a hoarse cry, <a href="#9" class="mim-tip-reference" title="Cummins, R. E., Klingberg, S., Wesley, J., Rogers, M., Zhao, Y., Murrell, D. F. <strong>Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.</strong> J. Invest. Derm. 117: 1103-1107, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11710919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11710919</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01508.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11710919">Cummins et al. (2001)</a> identified heterozygosity for a de novo c.416T-C transition in exon 1 of the KRT14 gene, resulting in the previously reported M119T substitution within the highly conserved helix initiation motif of the alpha-helical rod. The authors noted that the proband experienced early onset of unusually severe palmoplantar hyperkeratosis, similar to the 41-year-old man with the M119T variant reported by <a href="#40" class="mim-tip-reference" title="Shemanko, C. S., Mellerio, J. E., Tidman, M. J., Lane, E. B., Eady, R. A. J. <strong>Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14).</strong> J. Invest. Derm. 111: 893-895, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9804355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9804355</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1998.00388.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9804355">Shemanko et al. (1998)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11710919+9804355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 French boys (patients 1 and 2) with generalized severe EB simplex who developed marked palmoplantar keratoderma in the first months of life, <a href="#43" class="mim-tip-reference" title="Titeux, M., Mazereeuw-Hautier, J., Hadj-Rabia, S., Prost, C., Tonasso, L., Fraitag, S., de Prost, Y., Hovnanian, A., Bodemer, C. <strong>Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene.</strong> J. Invest. Derm. 126: 773-776, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16439965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16439965</a>] [<a href="https://doi.org/10.1038/sj.jid.5700154" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16439965">Titeux et al. (2006)</a> identified heterozygosity for the M119T substitution in the KRT14 gene, which occurred de novo in both probands. Immunocytochemistry in patient keratinocytes revealed numerous KRT14 filament aggregates after hypoosmotic shock, whereas none were seen in control cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16439965" 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>See also M119I (<a href="#0010">148066.0010</a>) and M119V (<a href="#0022">148066.0022</a>) for other mutations affecting the same codon. Noting the distinct EBS phenotypes resulting from different substitutions at the M119 residue, <a href="#9" class="mim-tip-reference" title="Cummins, R. E., Klingberg, S., Wesley, J., Rogers, M., Zhao, Y., Murrell, D. F. <strong>Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.</strong> J. Invest. Derm. 117: 1103-1107, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11710919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11710919</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01508.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11710919">Cummins et al. (2001)</a> suggested that a more severe phenotype might result from greater perturbation of coiled-coil interactions by replacement of the hydrophobic methionine with hydrophilic threonine, whereas with conversion to isoleucine or valine, hydrophobicity is maintained. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11710919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs57358989 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs57358989;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs57358989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs57358989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015724 OR RCV000056709" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015724, RCV000056709" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015724...</a>
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<p>In a patient with localized EBS of the Weber-Cockayne type (EBS1C; <a href="/entry/131800">131800</a>), <a href="#6" class="mim-tip-reference" title="Chen, H., Bonifas, J. M., Mstsumura, K., Ikeda, S., Leyden, W. A., Epstein, E. H. <strong>Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.</strong> J. Invest. Derm. 105: 629-632, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7561171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7561171</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12323846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7561171">Chen et al. (1995)</a> found a 417G-A transition in the KRT14 gene, resulting in a met119-to-ile (M119I) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7561171" 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="#17" class="mim-tip-reference" title="Hu, Z. L., Smith, L., Martins, S., Bonifas, J. M., Chen, H., Epstein, E. H., Jr. <strong>Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex: increased severity of disease in a homozygote.</strong> J. Invest. Derm. 109: 360-364, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9284105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9284105</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12336051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9284105">Hu et al. (1997)</a> reported a large 6-generation French-Portuguese family (Ta) with localized EBS (EBS1C) due to a heterozygous M119I mutation. Blistering began around 1 year of age and was limited to the hands and feet. There was disease exacerbation in the summer, and the disorder tended to decrease with age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9284105" 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>See also M119T (<a href="#0009">148066.0009</a>) and M119V (<a href="#0022">148066.0022</a>) for other mutations affecting the same codon. Noting the distinct EBS phenotypes resulting from different substitutions at the M119 residue, <a href="#9" class="mim-tip-reference" title="Cummins, R. E., Klingberg, S., Wesley, J., Rogers, M., Zhao, Y., Murrell, D. F. <strong>Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.</strong> J. Invest. Derm. 117: 1103-1107, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11710919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11710919</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01508.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11710919">Cummins et al. (2001)</a> suggested that a more severe phenotype might result from greater perturbation of coiled-coil interactions by replacement of the hydrophobic methionine with hydrophilic threonine, whereas with conversion to isoleucine or valine, hydrophobicity is maintained. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11710919" 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>Homozygosity for M119I</em></strong></p><p>
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In the family with EBS1C reported by <a href="#17" class="mim-tip-reference" title="Hu, Z. L., Smith, L., Martins, S., Bonifas, J. M., Chen, H., Epstein, E. H., Jr. <strong>Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex: increased severity of disease in a homozygote.</strong> J. Invest. Derm. 109: 360-364, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9284105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9284105</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12336051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9284105">Hu et al. (1997)</a>, one family member, born of a consanguineous union, was homozygous for the mutation. This patient had a more severe phenotype, with earlier onset, more generalized blistering, and involvement of the oral, vaginal, and anal mucosa. Since age 14, blistering has been limited to the hands and feet. The distal skin was scarred, all 10 toenails were missing, and small areas of palmar hyperkeratosis were present. <a href="#17" class="mim-tip-reference" title="Hu, Z. L., Smith, L., Martins, S., Bonifas, J. M., Chen, H., Epstein, E. H., Jr. <strong>Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex: increased severity of disease in a homozygote.</strong> J. Invest. Derm. 109: 360-364, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9284105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9284105</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12336051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9284105">Hu et al. (1997)</a> concluded that this mutation acts as a 'partial dominant' in that heterozygotes have milder localized disease and homozygotes have a more severe disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9284105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs58380626 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs58380626;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs58380626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs58380626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000056685 OR RCV001731185" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000056685, RCV001731185" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000056685...</a>
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<p>In a patient with generalized epidermolysis bullosa simplex of the Koebner type (EBS1B; <a href="/entry/131900">131900</a>), <a href="#21" class="mim-tip-reference" title="Hut, P. H. L., Vlies, P. V. D., Jonkman, M. F., Verlind, E., Shimizu, H., Buys, C. H. C. M., Scheffer, H. <strong>Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot analysis.</strong> J. Invest. Derm. 114: 616-619, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10733662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10733662</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2000.00928.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10733662">Hut et al. (2000)</a> identified a de novo heterozygous T-to-C transition at nucleotide 3634 (c.3634T-C) in exon 6 of the KRT14 gene resulting in a tyr415-to-his (Y415H) mutation in the helix termination motif of the keratin-14 rod domain 2B. The mutation was identified using a restriction enzyme strategy to eliminate a KRT14 pseudogene that complicates KRT14 mutation detection in genomic DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10733662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs57364972 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs57364972;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs57364972" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs57364972" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015727 OR RCV000056691" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015727, RCV000056691" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015727...</a>
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<p>In a patient with Dowling-Meara epidermolysis bullosa simplex (EBS1A; <a href="/entry/131760">131760</a>), <a href="#21" class="mim-tip-reference" title="Hut, P. H. L., Vlies, P. V. D., Jonkman, M. F., Verlind, E., Shimizu, H., Buys, C. H. C. M., Scheffer, H. <strong>Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot analysis.</strong> J. Invest. Derm. 114: 616-619, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10733662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10733662</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2000.00928.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10733662">Hut et al. (2000)</a> identified a de novo heterozygous T-to-A transversion at nucleotide position 3647 (c.3647T-A) in exon 6 of the KRT14 gene, resulting in a leu419-to-gln (L419Q) mutation in the helix termination motif of the keratin-14 rod domain 2B. The mutation was identified using a restriction enzyme strategy to eliminate a KRT14 pseudogene that complicates KRT14 mutation detection in genomic DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10733662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0013 EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs58762773 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs58762773;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs58762773?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs58762773" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs58762773" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000056692 OR RCV001731186" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000056692, RCV001731186" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000056692...</a>
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<p>In 2 patients with the Weber-Cockayne type of epidermolysis bullosa simplex (EBS1C; <a href="/entry/131800">131800</a>), <a href="#21" class="mim-tip-reference" title="Hut, P. H. L., Vlies, P. V. D., Jonkman, M. F., Verlind, E., Shimizu, H., Buys, C. H. C. M., Scheffer, H. <strong>Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot analysis.</strong> J. Invest. Derm. 114: 616-619, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10733662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10733662</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2000.00928.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10733662">Hut et al. (2000)</a> identified a heterozygous G-to-A transition at nucleotide position 3655 (c.3655G-A) in exon 6 of the KRT14 gene resulting in a glu422-to-lys (E422K) mutation in the helix termination motif of the keratin 14 rod domain 2B. The mutation was identified using a restriction enzyme strategy to eliminate a KRT14 pseudogene that complicates KRT14 mutation detection in genomic DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10733662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0014 EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs60231560 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs60231560;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs60231560?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs60231560" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs60231560" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015729 OR RCV000056760 OR RCV001291416 OR RCV001814040" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015729, RCV000056760, RCV001291416, RCV001814040" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015729...</a>
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<p>In a child, born of consanguineous Pakistani parents, with a mild form of autosomal recessive epidermolysis bullosa simplex (EBS1D; <a href="/entry/601001">601001</a>), <a href="#2" class="mim-tip-reference" title="Batta, K., Rugg, E. L., Wilson, N. J., West, N., Goodyear, H., Lane, E. B., Gratian, M., Dopping-Hepenstal, P., Moss, C., Eady, R. A. J. <strong>A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease.</strong> Brit. J. Derm. 143: 621-627, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10971341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10971341</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2000.03722.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10971341">Batta et al. (2000)</a> reported a homozygous mutation (92delT) in codon 31 of the KRT14 gene. This mutation causes a frameshift that results in a premature termination codon further downstream in exon 1 and was predicted to encode a protein of 116 amino acids, of which the first 30 are identical to the normal KRT14 sequence and the remaining 86 residues are missense sequence. There was complete absence of KRT14 in the epidermis and the child exhibited only mild to moderate disease. The unaffected mother was heterozygous for the mutation. The K14-negative basal epidermal cells from the patient stained positively for K15 (<a href="/entry/148030">148030</a>), suggesting that upregulation of expression of K15 may have compensated for the loss of K14. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10971341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0015 NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267607390 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607390;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs267607390?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267607390" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267607390" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015730 OR RCV000056695" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015730, RCV000056695" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015730...</a>
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<p>In the historic multigenerational Swiss family in which Naegeli-Franceschetti-Jadassohn syndrome (NFJS; <a href="/entry/161000">161000</a>) was first reported by <a href="#31" class="mim-tip-reference" title="Naegeli, B. <strong>Familiarer Chromatophorennavus.</strong> Schweiz. Med. Wschr. 8: 48 only, 1927."None>Naegeli (1927)</a>, with follow-up by <a href="#11" class="mim-tip-reference" title="Franceschetti, A., Jadassohn, W. <strong>A propos de l'incontinentia pigmenti, delimitation de deux syndromes differents figurant sous le meme terme.</strong> Dermatologica 108: 1-28, 1954.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13141721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13141721</a>]" pmid="13141721">Franceschetti and Jadassohn (1954)</a> and <a href="#22" class="mim-tip-reference" title="Itin, P. H., Lautenschlager, S., Meyer, R., Mevorah, B., Rufli, T. <strong>Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations.</strong> J. Am. Acad. Derm. 28: 942-950, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8496458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8496458</a>] [<a href="https://doi.org/10.1016/0190-9622(93)70135-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8496458">Itin et al. (1993)</a>, <a href="#25" class="mim-tip-reference" title="Lugassy, J., Itin, P., Ishida-Yamamoto, A., Holland, K., Huson, S., Geiger, D., Hennies, H. C., Indelman, M., Bercovich, D., Uitto, J., Bergman, R., McGrath, J. A., Richard, G., Sprecher, E. <strong>Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.</strong> Am. J. Hum. Genet. 79: 724-730, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960809</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960809[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/507792" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960809">Lugassy et al. (2006)</a> found a heterozygous frameshift mutation in the KRT14 gene: a heterozygous guanosine deletion at position 17 (17delG) of the KRT14 cDNA sequence (numbering starting from the initiation codon). This mutation was predicted to result in a frameshift and to generate a stop codon 8 amino acids downstream of the mutation site. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8496458+16960809+13141721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0016 DERMATOPATHIA PIGMENTOSA RETICULARIS (1 family)</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs60831116 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs60831116;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs60831116?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs60831116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs60831116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015731 OR RCV000056744" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015731, RCV000056744" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015731...</a>
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<p>Studying a family from the United States with the diagnosis of dermatopathia pigmentosa reticularis (DPR; <a href="/entry/125595">125595</a>), first reported by <a href="#15" class="mim-tip-reference" title="Heimer, W. L., II, Brauner, G., James, W. D. <strong>Dermatopathia pigmentosa reticularis: a report of a family demonstrating autosomal dominant inheritance.</strong> J. Am. Acad. Derm. 26: 298-301, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303619</a>] [<a href="https://doi.org/10.1016/0190-9622(92)70039-i" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303619">Heimer et al. (1992)</a>, <a href="#25" class="mim-tip-reference" title="Lugassy, J., Itin, P., Ishida-Yamamoto, A., Holland, K., Huson, S., Geiger, D., Hennies, H. C., Indelman, M., Bercovich, D., Uitto, J., Bergman, R., McGrath, J. A., Richard, G., Sprecher, E. <strong>Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.</strong> Am. J. Hum. Genet. 79: 724-730, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960809</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960809[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/507792" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960809">Lugassy et al. (2006)</a> demonstrated a heterozygous C-to-A transversion at cDNA position 54 of KRT14, resulting in the nonsense mutation cys 18 to ter (C18X). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16960809+1303619" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0017 EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs57278315 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs57278315;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs57278315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs57278315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015732 OR RCV000056703" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015732, RCV000056703" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015732...</a>
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<p>In a patient, born of consanguineous parents, with a severe form of generalized epidermolysis bullosa (EBS1D; <a href="/entry/601001">601001</a>), <a href="#36" class="mim-tip-reference" title="Rugg, E. L., McLean, W. H. I., Lane, E. B., Pitera, R., McMillan, J. R., Dopping-Hepenstal, P. J. C., Navsaria, H. A., Leigh, I. M., Eady, R. A. J. <strong>A functional 'knockout' of human keratin 14.</strong> Genes Dev. 8: 2563-2573, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7525407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7525407</a>] [<a href="https://doi.org/10.1101/gad.8.21.2563" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7525407">Rugg et al. (1994)</a> identified a homozygous 2-bp deletion (313_314del) in the KRT14 gene, resulting in premature termination. The was no KRT14 expression in the skin and no intermediate filaments were seen in the basal cells of the epidermis. Each unaffected parent was heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7525407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0018 EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs60171927 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs60171927;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs60171927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs60171927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015733 OR RCV000056713" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015733, RCV000056713" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015733...</a>
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<p>In 4 unrelated probands (patients 1, 12, 15, and 18) with Dowling-Meara EBS (EBS1A; <a href="/entry/131760">131760</a>), <a href="#32" 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 mutation in the KRT14 gene, resulting in an asn123-to-ser (N123S) substitution. The mutation was shown to have occurred de novo in each case. All of the patients had severe generalized blistering with oral mucous membrane involvement. The affected residue is within the 1A domain of the molecule and was predicted to severely perturb the intermediate filament network. <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>From a cohort of 33 newborns with generalized severe EBS who were reported to the National Health Service of the UK over a 15-year period and underwent genetic analysis, <a href="#38" class="mim-tip-reference" title="Sathishkumar, D., Orrin, E., Terron-Kwiatkowski, A., Browne, F., Martinez, A. E., Mellerio, J. E., Ogboli, M., Hoey, S., Ozoemena, L., Liu, L., Baty, D., McGrath, J. A., Moss, C. <strong>The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex.</strong> J. Invest. Derm. 136: 719-721, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26743602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26743602</a>] [<a href="https://doi.org/10.1016/j.jid.2015.11.024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26743602">Sathishkumar et al. (2016)</a> identified 2 patients who were heterozygous for the N123S mutation in the KRT14 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26743602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0019 NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME</strong>
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KRT14, GLN7TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267607391 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607391;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs267607391?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267607391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267607391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000056699 OR RCV000415603" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000056699, RCV000415603" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000056699...</a>
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<p>In affected members of 3 families from the United Kingdom with Naegeli-Franceschetti-Jadassohn syndrome (NFJS; <a href="/entry/161000">161000</a>), <a href="#25" class="mim-tip-reference" title="Lugassy, J., Itin, P., Ishida-Yamamoto, A., Holland, K., Huson, S., Geiger, D., Hennies, H. C., Indelman, M., Bercovich, D., Uitto, J., Bergman, R., McGrath, J. A., Richard, G., Sprecher, E. <strong>Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.</strong> Am. J. Hum. Genet. 79: 724-730, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960809</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960809[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/507792" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960809">Lugassy et al. (2006)</a> identified heterozygosity for a C-to-T transition in the KRT14 gene that resulted in a gln7-to-ter (Q7X) substitution within the E1/V1 (head) domain. The mutation segregated fully with the disorder in each family, and haplotype analysis suggested that NFJS in these 3 families might be caused by a founder mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16960809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0020 EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE</strong>
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KRT14, 18-BP DEL, NT1241
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2144582186 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2144582186;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2144582186" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2144582186" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001775534" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001775534" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001775534</a>
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<p>In an Iranian male proband (family 10) with generalized severe skin blistering and extensive palmoplantar keratoderma (EBS1A; <a href="/entry/131760">131760</a>), <a href="#44" class="mim-tip-reference" title="Vahidnezhad, H., Youssefian, L., Saeidian, A. H., Mozafari, N., Barzegar, M., Sotoudeh, S., Daneshpazhooh, M., Isaian, A., Zeinali, S., Uitto, J. <strong>KRT5 and KRT14 mutations in epidermolysis bullosa simplex with phenotypic heterogeneity, and evidence of semidominant inheritance in a multiplex family.</strong> J. Invest. Derm. 136: 1897-1901, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27283507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27283507</a>] [<a href="https://doi.org/10.1016/j.jid.2016.05.106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27283507">Vahidnezhad et al. (2016)</a> identified heterozygosity for a de novo in-frame 18-bp deletion (c.1241del18) in exon 6 of the KRT14 gene, resulting in deletion of 6 amino acids within the 2B domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27283507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0021" class="mim-anchor"></a>
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<strong>.0021 EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs61536893 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61536893;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61536893" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61536893" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000056665 OR RCV001777147" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000056665, RCV001777147" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000056665...</a>
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<p>In a Scottish proband (family 15) with skin blistering limited to the hands and feet (EBS1C; <a href="/entry/131800">131800</a>), <a href="#35" class="mim-tip-reference" title="Rugg, E. L., Horn, H. M., Smith, F. J., Wilson, N. J., Hill, A. J. M., Magee, G. J., Shemanko, C. S., Baty, D. U., Tidman, M. J., Lane, E. B. <strong>Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.</strong> J. Invest. Derm. 127: 574-580, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17039244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17039244</a>] [<a href="https://doi.org/10.1038/sj.jid.5700571" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17039244">Rugg et al. (2007)</a> identified heterozygosity for a c.1130T-C transition in the KRT14 gene, resulting in an ile377-to-thr (I377T) substitution near the stutter region within helix 2B. Skin biopsy revealed keratin aggregates, and the cleavage plane was through the cytoplasm of the basal keratinocytes. The proband was the only family member examined, and familial segregation was not reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17039244" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large Iranian family (family 9) in which 14 members over 4 generations experienced mild skin blistering limited to the palms and soles, <a href="#44" class="mim-tip-reference" title="Vahidnezhad, H., Youssefian, L., Saeidian, A. H., Mozafari, N., Barzegar, M., Sotoudeh, S., Daneshpazhooh, M., Isaian, A., Zeinali, S., Uitto, J. <strong>KRT5 and KRT14 mutations in epidermolysis bullosa simplex with phenotypic heterogeneity, and evidence of semidominant inheritance in a multiplex family.</strong> J. Invest. Derm. 136: 1897-1901, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27283507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27283507</a>] [<a href="https://doi.org/10.1016/j.jid.2016.05.106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27283507">Vahidnezhad et al. (2016)</a> identified heterozygosity for the I377T mutation in KRT14. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27283507" 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>Homozygosity for I377T</em></strong></p><p>
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Three family members in family 9 reported by <a href="#44" class="mim-tip-reference" title="Vahidnezhad, H., Youssefian, L., Saeidian, A. H., Mozafari, N., Barzegar, M., Sotoudeh, S., Daneshpazhooh, M., Isaian, A., Zeinali, S., Uitto, J. <strong>KRT5 and KRT14 mutations in epidermolysis bullosa simplex with phenotypic heterogeneity, and evidence of semidominant inheritance in a multiplex family.</strong> J. Invest. Derm. 136: 1897-1901, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27283507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27283507</a>] [<a href="https://doi.org/10.1016/j.jid.2016.05.106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27283507">Vahidnezhad et al. (2016)</a>, who were born of consanguineous unions and exhibited more generalized lesions, were found to be homozygous for the I377T variant. The authors designated this family as having a 'semidominant' mode of inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27283507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0022 EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs61263401 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61263401;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61263401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61263401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000056707 OR RCV001778697 OR RCV002247454" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000056707, RCV001778697, RCV002247454" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000056707...</a>
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<p>In 5 affected members over 3 generations (family 2) with the Koebner type of EBS (EBS1B; <a href="/entry/131900">131900</a>), <a href="#9" class="mim-tip-reference" title="Cummins, R. E., Klingberg, S., Wesley, J., Rogers, M., Zhao, Y., Murrell, D. F. <strong>Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.</strong> J. Invest. Derm. 117: 1103-1107, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11710919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11710919</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01508.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11710919">Cummins et al. (2001)</a> identified heterozygosity for a c.415A-G transition in the KRT14 gene, resulting in a met119-to-val (M119V) substitution at a residue within the highly conserved helix initiation motif of the alpha-helical rod. The mutation was not found in 3 unaffected family members. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11710919" 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>See also M119T (<a href="#0009">148066.0009</a>) and M119I (<a href="#0010">148066.0010</a>) for other mutations affecting the same codon. Noting the distinct EBS phenotypes resulting from different substitutions at the M119 residue, <a href="#9" class="mim-tip-reference" title="Cummins, R. E., Klingberg, S., Wesley, J., Rogers, M., Zhao, Y., Murrell, D. F. <strong>Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.</strong> J. Invest. Derm. 117: 1103-1107, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11710919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11710919</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01508.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11710919">Cummins et al. (2001)</a> suggested that a more severe phenotype might result from greater perturbation of coiled-coil interactions by replacement of the hydrophobic methionine with hydrophilic threonine, whereas with conversion to isoleucine or valine, hydrophobicity is maintained. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11710919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs61664582 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61664582;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61664582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs61664582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000056678 OR RCV001778695" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000056678, RCV001778695" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000056678...</a>
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<p>In a 31-year-old Japanese woman with the Koebner type of EBS (EBS1B; <a href="/entry/131900">131900</a>), <a href="#13" class="mim-tip-reference" title="Gu, L.-H., Ichiki, Y., Sato, M., Kitajima, Y. <strong>A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex.</strong> J. Derm. 29: 136-145, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11990248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11990248</a>] [<a href="https://doi.org/10.1111/j.1346-8138.2002.tb00236.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11990248">Gu et al. (2002)</a> identified heterozygosity for a c.1231G-T transversion in the KRT14 gene, resulting in a glu411-to-ter (E411X) substitution at a residue in the 'g' position, which stabilizes the coiled-coil by forming salt bridges. The truncated protein lacks the last 16 amino acid residues of the helix termination peptide 2B and the entire tail domain. DNA was unavailable from the proband's affected sons, but the mutation was not found in 50 unrelated control DNA samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11990248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs58357841 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs58357841;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs58357841?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs58357841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs58357841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000056687 OR RCV001778696" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000056687, RCV001778696" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000056687...</a>
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<p>In a 2-year-old French boy (patient 3) with generalized severe EB simplex (EBS1A; <a href="/entry/131760">131760</a>), <a href="#43" class="mim-tip-reference" title="Titeux, M., Mazereeuw-Hautier, J., Hadj-Rabia, S., Prost, C., Tonasso, L., Fraitag, S., de Prost, Y., Hovnanian, A., Bodemer, C. <strong>Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene.</strong> J. Invest. Derm. 126: 773-776, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16439965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16439965</a>] [<a href="https://doi.org/10.1038/sj.jid.5700154" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16439965">Titeux et al. (2006)</a> identified heterozygosity for a de novo 1-bp deletion (c.1246delC) in exon 6 of the KRT14 gene, causing a frameshift resulting in a premature termination codon (Arg416AlafsTer26) and a protein lacking the helix termination peptide and the tail domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16439965" 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. H., Jr. <strong>Identification of a keratin 14 mutation in a family with epidermolysis bullosa simplex. (Abstract)</strong> Am. J. Hum. Genet. 49 (suppl.): 399, 1991.">Bonifas et al. (1991)</a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2442174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2442174</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2442174" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1083/jcb.105.2.791" target="_blank">Full Text</a>]
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Batta, K., Rugg, E. L., Wilson, N. J., West, N., Goodyear, H., Lane, E. B., Gratian, M., Dopping-Hepenstal, P., Moss, C., Eady, R. A. J.
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<strong>A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease.</strong>
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Brit. J. Derm. 143: 621-627, 2000.
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[<a href="https://doi.org/10.1126/science.1720261" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1101/gad.8.21.2574" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/1523-1747.ep12323846" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/2.11.1971" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0092-8674(91)90051-y" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1046/j.0022-202x.2001.01508.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1346-8138.2002.tb00236.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0092-8674(82)90424-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0190-9622(92)70039-i" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.1380020107" target="_blank">Full Text</a>]
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<a id="Sathishkumar2016" class="mim-anchor"></a>
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Sathishkumar, D., Orrin, E., Terron-Kwiatkowski, A., Browne, F., Martinez, A. E., Mellerio, J. E., Ogboli, M., Hoey, S., Ozoemena, L., Liu, L., Baty, D., McGrath, J. A., Moss, C.
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<strong>The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex.</strong>
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J. Invest. Derm. 136: 719-721, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26743602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26743602</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26743602" 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.jid.2015.11.024" target="_blank">Full Text</a>]
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<a id="Shemanko2000" class="mim-anchor"></a>
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Shemanko, C. S., Horn, H. M., Keohane, S. G., Hepburn, N., Kerr, A. I. G., Atherton, D. J., Tidman, M. J., Lane, E. B.
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<strong>Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10730767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10730767</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10730767" 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/10.1046/j.1365-2133.2000.03304.x" target="_blank">Full Text</a>]
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<a id="Shemanko1998" class="mim-anchor"></a>
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<div class="">
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Shemanko, C. S., Mellerio, J. E., Tidman, M. J., Lane, E. B., Eady, R. A. J.
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<strong>Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9804355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9804355</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9804355" 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/10.1046/j.1523-1747.1998.00388.x" target="_blank">Full Text</a>]
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Sprecher, E., Itin, P., Whittock, N. V., McGrath, J. A., Meyer, R., DiGiovanna, J. J., Bale, S. J., Uitto, J., Richard, G.
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<strong>Refined mapping of Naegeli-Franceschetti-Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12230514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12230514</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12230514" 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/10.1046/j.1523-1747.2002.01855.x" target="_blank">Full Text</a>]
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<a id="Takeo2013" class="mim-anchor"></a>
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Takeo, M., Chou, W. C., Sun, Q., Lee, W., Rabbani, P., Loomis, C., Taketo, M. M., Ito, M.
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<strong>Wnt activation in nail epithelium couples nail growth to digit regeneration.</strong>
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Nature 499: 228-232, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23760480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23760480</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23760480[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23760480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature12214" target="_blank">Full Text</a>]
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<a id="Titeux2006" class="mim-anchor"></a>
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Titeux, M., Mazereeuw-Hautier, J., Hadj-Rabia, S., Prost, C., Tonasso, L., Fraitag, S., de Prost, Y., Hovnanian, A., Bodemer, C.
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<strong>Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene.</strong>
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J. Invest. Derm. 126: 773-776, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16439965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16439965</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16439965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.jid.5700154" target="_blank">Full Text</a>]
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<a id="Vahidnezhad2016" class="mim-anchor"></a>
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Vahidnezhad, H., Youssefian, L., Saeidian, A. H., Mozafari, N., Barzegar, M., Sotoudeh, S., Daneshpazhooh, M., Isaian, A., Zeinali, S., Uitto, J.
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<strong>KRT5 and KRT14 mutations in epidermolysis bullosa simplex with phenotypic heterogeneity, and evidence of semidominant inheritance in a multiplex family.</strong>
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J. Invest. Derm. 136: 1897-1901, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27283507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27283507</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27283507" 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.jid.2016.05.106" target="_blank">Full Text</a>]
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<a id="Vassar1991" class="mim-anchor"></a>
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Vassar, R., Coulombe, P. A., Degenstein, L., Albers, K., Fuchs, E.
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<strong>Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease.</strong>
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Cell 64: 365-380, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1703046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1703046</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1703046" 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/10.1016/0092-8674(91)90645-f" target="_blank">Full Text</a>]
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Whittock, N. V., Coleman, C. M., McLean, W. H. I., Ashton, G. H. S., Acland, K. M., Eady, R. A. J., McGrath, J. A.
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<strong>The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21.</strong>
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J. Invest. Derm. 115: 694-698, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10998145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10998145</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10998145" 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/10.1046/j.1523-1747.2000.00097.x" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 04/15/2022
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<div class="row collapse" id="mimCollapseContributors">
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Marla J. F. O'Neill - updated : 01/13/2022<br>Marla J. F. O'Neill - updated : 11/11/2021<br>Marla J. F. O'Neill - updated : 11/11/2021<br>Marla J. F. O'Neill - updated : 11/09/2021<br>Marla J. F. O'Neill - updated : 01/12/2017<br>Ada Hamosh - updated : 8/29/2013<br>Patricia A. Hartz - updated : 11/19/2009<br>Cassandra L. Kniffin - reorganized : 9/14/2009<br>Cassandra L. Kniffin - updated : 8/25/2009<br>Patricia A. Hartz - updated : 6/22/2007<br>Victor A. McKusick - updated : 9/22/2006<br>Paul J. Converse - updated : 2/22/2002<br>Gary A. Bellus - updated : 4/5/2001<br>Gary A. Bellus - updated : 6/13/2000<br>Gary A. Bellus - updated : 6/12/2000<br>Victor A. McKusick - updated : 1/31/2000<br>Victor A. McKusick - updated : 2/3/1999<br>Moyra Smith - updated : 8/29/1996
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/6/1990
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carol : 04/28/2022
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alopez : 04/15/2022<br>alopez : 01/13/2022<br>alopez : 11/11/2021<br>alopez : 11/11/2021<br>alopez : 11/09/2021<br>alopez : 10/28/2021<br>alopez : 10/27/2021<br>alopez : 10/26/2021<br>alopez : 10/25/2021<br>alopez : 10/20/2021<br>carol : 09/28/2021<br>carol : 03/31/2021<br>alopez : 01/12/2017<br>mgross : 11/11/2015<br>ckniffin : 9/24/2013<br>carol : 9/5/2013<br>alopez : 8/29/2013<br>carol : 9/9/2011<br>alopez : 4/6/2010<br>terry : 1/21/2010<br>mgross : 12/2/2009<br>mgross : 12/2/2009<br>terry : 11/19/2009<br>ckniffin : 9/14/2009<br>carol : 9/14/2009<br>ckniffin : 8/25/2009<br>ckniffin : 2/12/2009<br>wwang : 7/2/2007<br>terry : 6/22/2007<br>alopez : 9/27/2006<br>terry : 9/22/2006<br>mgross : 2/22/2002<br>cwells : 4/11/2001<br>cwells : 4/5/2001<br>alopez : 6/13/2000<br>alopez : 6/12/2000<br>carol : 1/31/2000<br>terry : 1/31/2000<br>mgross : 3/16/1999<br>carol : 2/12/1999<br>terry : 2/3/1999<br>mark : 2/12/1997<br>terry : 2/5/1997<br>terry : 1/17/1997<br>mark : 8/29/1996<br>terry : 8/28/1996<br>terry : 8/22/1996<br>terry : 6/5/1996<br>terry : 6/3/1996<br>mark : 1/23/1996<br>mark : 1/20/1996<br>carol : 1/24/1995<br>mimadm : 4/29/1994<br>warfield : 4/12/1994<br>carol : 12/10/1993<br>carol : 4/29/1993<br>carol : 7/14/1992
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<strong>*</strong> 148066
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<h3>
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KERATIN 14, TYPE I; KRT14
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<em>Alternative titles; symbols</em>
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K14<br />
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KA14
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<strong><em>HGNC Approved Gene Symbol: KRT14</em></strong>
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<strong>SNOMEDCT:</strong> 239084001, 239088003, 254179000, 294705005;
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Cytogenetic location: 17q21.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:41,582,279-41,586,895 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
|
<th>
|
|
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>
|
|
Phenotype <br /> mapping key
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|
</th>
|
|
</tr>
|
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</thead>
|
|
<tbody>
|
|
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<tr>
|
|
<td rowspan="6">
|
|
<span class="mim-font">
|
|
17q21.2
|
|
</span>
|
|
</td>
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Dermatopathia pigmentosa reticularis
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
125595
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
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|
|
|
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|
|
|
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|
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</tr>
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|
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|
|
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|
|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Epidermolysis bullosa simplex 1A, generalized severe
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
131760
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Epidermolysis bullosa simplex 1B, generalized intermediate
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
131900
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Epidermolysis bullosa simplex 1C, localized
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
131800
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
601001
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Naegeli-Franceschetti-Jadassohn syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
161000
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
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|
|
</tbody>
|
|
</table>
|
|
</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<span class="mim-text-font">
|
|
<p>KRT14 belongs to a large group of acidic type I keratins that interact with basic type II keratins to form the 8-nm cytoskeletal filaments of epithelial cells. Both type I and type II keratins have a central alpha-helical domain of over 300 amino acids that mediates keratin interaction. KRT14 is expressed in the basal layer of stratified squamous epithelia, including epidermis (summary by Albers and Fuchs (1987) and Rosenberg et al. (1988)). </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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|
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|
|
<span class="mim-text-font">
|
|
<p>Albers and Fuchs (1987) constructed a complete human K14 cDNA using a partial cDNA isolated by Hanukoglu and Fuchs (1982) and a genomic clone described by Marchuk et al. (1984, 1985). The deduced 472-amino acid protein has an N-terminal domain, 4 helical domains, and a short C-terminal tail. Helical domain-4 has a highly conserved sequence (TYRRLLEGE) found in nearly all intermediate filament proteins. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Rosenberg et al. (1988) mapped the keratin-14 gene to chromosome 17. Rosenberg et al. (1991) stated that the KRT14 and KRT16 (148067) genes, as well as a yet-unidentified keratin gene, had been localized to chromosome 17q12-q21. Another cluster of genes located at chromosome 17p12-p11 contained a nonfunctional gene for KRT16 and 2 genes for KRT14, at least 1 of which was found to be a pseudogene. </p><p>Milisavljevic et al. (1996) analyzed P1 clones containing multiple acidic keratin genes using restriction analysis and Southern blot hybridization with PCR-amplified probes specific for functional human keratin genes 15 (148030), 17 (148069), and 19 (148020). Their results showed that there are 2 clusters of acidic keratin loci on chromosome 17q12-q21, very closely linked to each other within a 55-kb region. The genes were organized 5-prime to 3-prime in the following order: K19--K15--K17--K16--K14. Between K15 and K17 at least 1 additional, unidentified keratin gene was present. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>PtK2 potoroo kidney epithelial cells express only the type I keratin K18 (148070) and the type II keratin K8 (148060). Albers and Fuchs (1987) showed that epitope-tagged human K14 was incorporated into endogenous keratin filaments along with K18 and K8 in PtK2 cells. Truncation of K14 after helical domain-4 had no effect on incorporation of K14 into filaments. However, progressive truncation of K14 within helix-4 resulted in a correspondingly progressive disruption of filament structure and accumulation of the truncated protein into cytoplasmic aggregates. The integrity of all other cytoskeletal structures remained intact. Albers and Fuchs (1987) concluded that the mutant protein both interfered with the formation of new keratin filaments and disrupted the existing keratin cytoskeleton. </p><p>Langbein et al. (2005) examined the expression of several keratins in eccrine sweat gland and in plantar epidermis. In the sweat gland, KRT14 was expressed in lower portions of the duct and in the deeper secretory region of the gland, but not in the superficial region. In plantar epidermis, KRT14 was expressed only in the basal layer and in part of the lower suprabasal layer. </p><p>In mice, Takeo et al. (2013) showed that nail stem cells (NSCs) reside in the proximal nail matrix and are defined by high expression of keratin-14, keratin-17, and KI67 (MKI67; 176741). The mechanisms governing NSC differentiation are coupled directly to their ability to orchestrate digit regeneration. Early nail progenitors undergo Wnt (see 164820)-dependent differentiation into the nail. After amputation, this Wnt activation is required for nail regeneration and also for attracting nerves that promote mesenchymal blastema growth, leading to the regeneration of the digit. Amputations proximal to the Wnt-active nail progenitors result in failure to regenerate the nail or digit. Nevertheless, beta-catenin (116806) stabilization in the NSC region induced their regeneration. Takeo et al. (2013) concluded that their results established a link between nail stem cell differentiation and digit regeneration, and suggested that NSCs may have the potential to contribute to the development of novel treatments for amputees. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Epidermolysis Bullosa Simplex</em></strong></p><p>
|
|
In a family with at least 16 affected individuals in 5 generations with localized epidermolysis bullosa simplex (EBS1C; 131800), Chen et al. (1993) identified a heterozygous mutation in the KRT14 gene (148066.0005). </p><p>Although all previous mutations identified in the KRT14 and KRT5 genes behaved as dominant-negatives with an autosomal dominant pattern of the clinical disorder, Hovnanian et al. (1993) described a French family in which 2 children with unaffected first-cousin parents had EB simplex (EBS1D; 601001) and homozygosity for a glu144-to-ala mutation (148066.0004) which was present in heterozygous state in both parents. </p><p>In a large 3-generation Irish family (TCDG) with the Koebner form of EBS (EBS1B; 131900), Humphries et al. (1993) identified heterozygosity for a missense mutation in the KRT14 gene (M272R; 148066.0007). Humphries et al. (1996) identified 2 more large Irish families with localized EBS and missense mutations in the KRT5 gene: M327T (148040.0004) in family TCDM, and N193K (148040.0007) in family TCDN. Noting that they knew of no other large families with EBS in the Irish population, Humphries et al. (1996) concluded that the M272R and N193K mutations in KRT5, together with the M272R variant in KRT14, likely accounted for most cases of dominant localized epidermolysis bullosa simplex in Ireland. </p><p>Chan et al. (1994) analyzed a very rare case of severe recessive epidermolysis bullosa simplex (EBS1D; 601001) in which the patient lacked a discernible keratin filament network in basal epidermal cells. Genetic analyses demonstrated homozygosity for a point mutation in the KRT14 gene (Y204X; 148066.0006) that yielded a premature termination codon in the major basal type I keratin gene and caused complete ablation of KRT14. The consanguineous parents were clinically normal, each harboring 1 copy of the null KRT14 mutation. Analysis of cultured keratinocytes revealed that the loss of KRT14 was not compensated for by the upregulation of other type I keratins. Thus, the cell fragility resulted from lack of an extensive basal keratin network. </p><p>Chen et al. (1995) systematically screened genomic sequences of KRT14 for mutations in patients of 49 apparently independent EBS kindreds using SSCP analysis. Most affected individuals were identified through assistance of the National EB Registry or through DEBRA of America, a genetic support group. KRT14 mutations were found in 10 of the families. The 10 mutations were clustered at 3 sites--the ends of the helices and the L12 linker region, where previous, more limited studies had identified mutations. Early onset of blistering in these 10 families was correlated with more widespread distribution of cutaneous mutations. Those with early onset of blisters (e.g., by age 1 week) had generalized disease; those with the later onset (e.g., after several months to 2 years) had blisters predominantly at acral sites. As in other families, patients with substitution of arg125 (148066.0002, 148066.0003) all had generalized blistering (EBS1A; 131760). Chen et al. (1995) reported a family with an arg125-to-ser mutation in which the proband had onset at 2 days of age. Generalized blistering was also present in a kindred with a gln120-to-arg mutation, giving onset in the first week of life. Chen et al. (1995) stated that they were aware of formal publication of mutations in either KRT5 or KRT14 in 22 apparently independent kindreds (7 in KRT5 and 15 in KRT14). They discussed the reason that mutation was identified in only 10 of the 49 kindreds. </p><p>In a 3-year-old boy (family 1) with generalized severe EBS (EBS1A) and a hoarse cry, Cummins et al. (2001) identified heterozygosity for a de novo occurrence of the previously reported M119T mutation in the KRT14 gene (148066.0009). In addition, the authors studied a 3-generation family with the Koebner type of EBS (EBS1B; family 2), Cummins et al. (2001) and identified heterozygosity for a missense mutation in the KRT14 gene (M119V; 131760.0022) that segregated with disease. </p><p>In a 31-year-old Japanese woman with the Koebner type of EBS, Gu et al. (2002) sequenced the KRT5 and KRT14 genes, and identified heterozygosity for a nonsense mutation in the KRT14 gene (E411X; 131760.0023). DNA was unavailable from her affected sons for analysis, but the mutation was not found in 50 unrelated control DNA samples. </p><p>In 2 French boys with generalized severe EB simplex, who developed marked palmoplantar keratoderma in the first months of life, Titeux et al. (2006) identified heterozygosity for the recurrent M119T substitution in the KRT14 gene (148066.0009), which occurred de novo in both probands. In a third French boy with severe EBS but less severe involvement of palms and soles, the authors identified a 1-bp deletion in KRT14 (148066.0024). </p><p>In a Scottish proband with EBS limited to the hands and feet, Rugg et al. (2007) identified heterozygosity for a missense mutation in the KRT14 gene (I377T; 148066.0021). </p><p>In a 15-year review of all infants born with generalized severe EBS and notified to the National Health Service of the UK, Sathishkumar et al. (2016) identified 37 cases. Genetic analysis in 33 of those cases showed KRT5 mutations in 17, KRT14 mutations in 15, and mutations in both KRT5 and KRT14 in 1 patient. Patients who were heterozygous for KRT14 mutations included 2 with the recurrent R125C variant (148066.0002), 4 with the recurrent R125H variant (148066.0003), and 2 with the N123S variant (148066.0018); 1 patient was heterozygous for R125H in KRT14 and an R471C variant in KRT5. </p><p>From a cohort of Iranian patients with clinical presentations and immunoepitope mapping suggestive of EBS, Vahidnezhad et al. (2016) identified 4 families with heterozygous mutations in the KRT5 gene and 7 families with mutations in KRT14. Homozygous KRT14 variants were present in 3 families, whereas heterozygous KRT14 variants segregated in 4 families, 2 of which exhibited severe disease (see, e.g., 148066.0020). One of the probands with severe disease (family 7) was reported to have digenic inheritance, with a heterozygous variant in KRT5 as well as KRT14. The remaining 2 heterozygous families exhibited localized disease; in 1 of them (family 9), some affected individuals who were born of consanguineous unions exhibited more generalized lesions and were found to be homozygous for the segregating variant (I377T; 148066.0021). </p><p>In an Italian male infant with generalized severe EB simplex and a hoarse cry, Diociaiuti et al. (2020) identified heterozygosity for the recurrent R125C mutation in the KRT14 gene (148066.0002). </p><p><strong><em>Other Disorders</em></strong></p><p>
|
|
Naegeli-Franceschetti-Jadassohn syndrome (NFJS; 161000) and dermatopathia pigmentosa reticularis (DPR; 125595) are 2 closely related autosomal dominant ectodermal dysplasia syndromes that clinically share complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of skin hyperpigmentation, thickening of the palms and soles (palmoplantar keratoderma), abnormal sweating, and other subtle developmental anomalies of the teeth, hair, and skin. Lugassy et al. (2006) studied one family with DPR and 4 families with NFJS. Both disorders map to 17q11.2-q21 (Whittock et al., 2000; Sprecher et al., 2002), which supported the suggestion that the disorders are allelic. Lugassy et al. (2006) refined the mapping of NFJS/DPR, finding a maximum lod score of 8.3 at marker D17S800 at a recombination fraction of 0.0. The disease interval was found to harbor 230 genes, including a large cluster of keratin genes. Heterozygous nonsense or frameshift mutations in KRT14 were found to segregate with the disease traits in all 5 families. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
|
|
|
|
|
|
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<span class="mim-text-font">
|
|
<p>Fuchs and Coulombe (1992) noted that all point mutations identified to that time in patients with epidermolysis bullosa simplex (EBS) occurred in the rod domain of either the keratin-14 or keratin-5 protein, consistent with the dominant-negative behavior of most rod domain mutations and the autosomal dominant transmission of the disorder in most EBS families. The 3 mutations resulting in the severe EBS Dowling-Meara type (2 in KRT14 and 1 in KRT5) are in the highly conserved amino or carboxyl ends of the rod domain. The KRT14 mutation in the family with the less severe Koebner type (148066.0001) is in a less conserved region of the rod domain. </p><p>In contrast with mutations affecting the central alpha-helical rod domain of keratin-14, which are found in association with epidermolysis bullosa simplex in its various clinical forms, NFJS/DPR-associated mutations were found in a region of the gene encoding the nonhelical head (E1/V1) domain and were found to result in very early termination of translation (Lugassy et al., 2006). The data suggested that KRT14 plays an important role during ontogenesis of dermatoglyphics and sweat glands. Among other functions, the N-terminal part of keratin molecules confers protection against proapoptotic signals. Ultrastructural examination of patient skin biopsy specimens provided evidence for increased apoptotic activity in the basal cell layer where KRT14 is expressed, suggesting that apoptosis is an important mechanism in the pathogenesis of NFJS/DPR. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
|
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|
|
|
|
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<span class="mim-text-font">
|
|
<p>In transgenic mice, Vassar et al. (1991) showed that a mutant KRT14 gene, which was driven by the normal human KRT14 enhancer/promoter at the 5-prime end and encoded a truncated keratin molecule lacking 135 amino acids from its carboxyl terminus, resulted in abnormalities resembling the group of genetic disorders known as epidermolysis bullosa simplex (e.g., 131950, 131900). </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
|
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|
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<span class="mim-text-font">
|
|
<p>In mapping studies, McAlpine (1990) used the symbols KRT14L1, KRT14L2, and KRT14L3 because of the uncertainty as to which of the hybridizing bands represent active gene(s).</p><p>Rosenberg et al. (1988) determined that 2 genes encoding K16 (148067) and 3 genes encoding K14 are clustered in 2 distinct segments of chromosome 17. The genes within each cluster were found to be tightly linked. By in situ hybridization, one cluster of genes was located at band 17p12-p11 and a second at band 17q12-q21. Small clusters of grains were also noted on the long arm of chromosome 14 at bands q31-q32 and on the long arm of chromosome 21. These may have represented sites of more distantly related keratin genes. </p>
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</span>
|
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<div>
|
|
<br />
|
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</div>
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</div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>24 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
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<span class="mim-text-font">
|
|
|
|
KRT14, LEU384PRO
|
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<br />
|
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|
|
SNP: rs59629244,
|
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|
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ClinVar: RCV000015715, RCV000056667, RCV003387723
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family with generalized epidermolysis bullosa simplex of the Koebner type (EBS1B; 131900), Bonifas et al. (1991) demonstrated linkage of the disorder to the gene encoding keratin-14. Further studies demonstrated a T-to-C substitution at bp 3542 in exon 6 resulting in a change of amino acid 384 from leucine to proline. The mutation created a new MspI site. It is notable that finding the particular mutation was a 'stroke of luck.' No polymorphism of the KRT14 gene was known and linkage of EBS to DNA markers in the family in question were inconclusive. Bonifas et al. (1991), however, hybridized a 3-prime untranslated KRT14 probe to DNA from members of the family digested with 9 restriction endonucleases. This revealed the unique MspI restriction site change which was tightly linked to EBS in this family with a lod score of 3.0. It was found in all affected members and in no unaffected members. Vassar et al. (1991) produced basal keratinocyte fragility causing neonatal death in mice carrying a transgene encoding a shortened KRT14. The phenotype of the human disease caused by the leu384-to-pro mutation is much less severe than that caused by deletion of 135 amino acids from the KRT14 carboxyl terminus in the transgenic mice. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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KRT14, ARG125CYS
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<br />
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SNP: rs60399023,
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ClinVar: RCV000015716, RCV000056717, RCV000679886, RCV001807730, RCV002243645, RCV003924837
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</span>
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</div>
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<span class="mim-text-font">
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<p>Epidermolysis bullosa simplex, severe type (EBS1A; 131760), formerly known as the Dowling-Meara type, is distinguished from other subtypes not only by its severity but also by the presence of large cytoplasmic clumps of tonofilaments that can be labeled with antibodies against the basal epidermal keratins. In 2 patients with the Dowling-Meara form, Coulombe et al. (1991) demonstrated critical mutations in the KRT14 gene. One patient had a C-to-T transition corresponding to nucleotide 433 of the gene, converting an arginine residue (CGC) to a cysteine residue (TGC) at amino acid 125 (R125C), located near the amino end of the KRT14 rod segment. To demonstrate the effect on function, Coulombe et al. (1991) engineered the arg125-to-cys mutation in a KRT14 cDNA and showed that this cDNA disrupted keratin network formation in transfected keratinocytes and disturbed filament assembly in vitro. Also see 148066.0003. </p><p>Sasaki et al. (1999) reported that the arg125-to-cys mutation had been identified in 4 of 6 Japanese families with the Dowling-Meara type of EBS. They stated that 8 of 19 families with mutations in the KRT14 gene carried the arg125-to-cys mutation. </p><p>Hut et al. (2000) identified a de novo heterozygous R125C mutation in 2 patients with EBS Dowling-Meara type. </p><p>Ma et al. (2001) used differential interference contrast microscopy to show that the arg125-to-cys mutation in the KRT14 gene greatly reduced the ability of reconstituted mutant filaments to bundle under crosslinking conditions, possibly causing the fragility of epithelial cells seen in some keratin-based disorders. </p><p>From a cohort of 33 newborns with generalized severe EBS who were reported to the National Health Service of the UK over a 15-year period and underwent genetic analysis, Sathishkumar et al. (2016) identified 2 patients who were heterozygous for the R125C mutation in the KRT14 gene. </p><p>In an Italian male infant with generalized severe EB simplex and a hoarse cry with mild inspiratory stridor, Diociaiuti et al. (2020) identified heterozygosity for the recurrent R125C mutation in the KRT14 gene. The mutation arose de novo in the proband. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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KRT14, ARG125HIS
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<br />
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SNP: rs58330629,
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ClinVar: RCV000015717, RCV000056718, RCV003137528, RCV003407339
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a second patient with epidermolysis bullosa simplex of the Dowling-Meara type (EBS1A; 131760), Coulombe et al. (1991) demonstrated a G-to-A transition converting an arginine residue (CGC) to a histidine residue (CAC) at amino acid 125 (R125H). Also see 148066.0002. </p><p>Although laryngeal involvement is generally associated with junctional forms of EB, Shemanko et al. (2000) reported 2 unrelated infants with no family history of skin disease who presented within hours of birth with extensive blistering of the skin and oral mucosa and subsequently developed hoarse cries. One had a de novo heterozygous type 14 keratin mutation (arg125 to his), consistent with a diagnosis of Dowling-Meara EBS. The other had a heterozygous type 5 keratin mutation (ser181 to pro; 148040.0012). </p><p>Hut et al. (2000) identified a de novo heterozygous R125H mutation in a patient with EBS Dowling-Meara type. </p><p>From a cohort of 33 newborns with generalized severe EBS who were reported to the National Health Service of the UK over a 15-year period and underwent genetic analysis, Sathishkumar et al. (2016) identified 4 patients who were heterozygous for the R125H mutation in the KRT14 gene. In addition, 1 patient was heterozygous for R125H in KRT14 and an R471C variant in the KRT5 gene. Detailed clinical information was not reported for that patient. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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KRT14, GLU144ALA
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<br />
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SNP: rs57121345,
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ClinVar: RCV000015718, RCV000056739
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 French sibs, born of consanguineous parents, with autosomal recessive epidermolysis bullosa (EBS1D; 601001), Hovnanian et al. (1993) identified a homozygous 491A-C transversion in the KRT14 gene, resulting in a glu144-to-ala (E144A) substitution in the first helical segment of the rod domain. The loss of an ionic interaction with keratin 5 was thought to affect KRT14-KRT5 heterodimer formation. Genetic linkage with keratin 5 was excluded. The parents were unaffected. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0005 EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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KRT14, 3-BP DEL, GLU375DEL
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<br />
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SNP: rs56974573,
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ClinVar: RCV000015719, RCV000056663
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family with at least 16 affected individuals in 5 generations with localized epidermolysis bullosa simplex of the Weber-Cockayne type (EBS1C; 131800), in which nonscarring blisters are limited to the hands and feet, Chen et al. (1993) found deletion of 3 nucleotides in the KRT14 gene, resulting in deletion of a glutamic acid residue from the helix 2B region of the gene product. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0006 EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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KRT14, TYR204TER
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<br />
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SNP: rs60725382,
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gnomAD: rs60725382,
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ClinVar: RCV000015720, RCV000056746
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with severe autosomal recessive epidermolysis bullosa simplex (EBS1D; 601001), Chan et al. (1994) identified a homozygous 612T-A transversion in the KRT14 gene, resulting in a tyr204-to-ter (Y204X) substitution. Each of the unaffected parents, who were related, was heterozygous for the mutation. Skin biopsy of the patient showed lack of a discernible keratin filament network in basal epidermal cells. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0007 EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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KRT14, MET272ARG
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<br />
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SNP: rs61371557,
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ClinVar: RCV000015721, RCV000056753
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a large 3-generation Irish family (TCDG) with the generalized simplex (Koebner) form of epidermolysis bullosa (EBS1B; 131900), originally reported by Humphries et al. (1990) as family TCD-EBS2, Humphries et al. (1993) identified a c.3028T-G transversion in the KRT14 gene, resulting in a met272-to-arg (M272R) substitution within the central rod domain in the linker region. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0008 EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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KRT14, IVS1AS, A-C, -2
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<br />
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SNP: rs200779504,
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gnomAD: rs200779504,
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ClinVar: RCV000015722, RCV000056741
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>Jonkman et al. (1996) studied a kindred with autosomal recessive epidermolysis bullosa simplex (EBS1D; 601001) in which affected members lacked expression of keratin-14 and showed homozygosity for a acceptor splice site mutation that resulted in skipping of exon 2 in 24% of the KRT14 transcripts and to the use of a cryptic splice site in 76% of the transcripts. Clinically the patients had severe generalized skin blistering that improved slightly with age. The basal cells of the patient did not express keratin 14 and contained no keratin intermediate filaments. The expression of keratin 5, the obligate copolymer of keratin 14, was slightly reduced. The expression of keratin 15, the alternative basal cell keratin, was increased, suggesting upregulation or stabilization to compensate for the lack of keratin 14. The expression of keratin 16, keratin 17, and keratin 19 was not different from controls. The homozygous mutation identified by Jonkman et al. (1996) was located at the 3-prime acceptor splice site of intron 1 where nucleotide 1840 showed an A-to-C transversion in the affected individuals. Premature termination codons were generated in all transcripts at either codon 175+1 or codon 175+29, leading to a keratin-14 protein truncated within the helical 1B rod domain. Heterozygous family members were unaffected. The disorder was associated with circumscribed hyperkeratotic lesions with the histology of epidermolytic hyperkeratosis. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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KRT14, MET119THR
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<br />
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|
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SNP: rs28928893,
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ClinVar: RCV000015723, RCV000056708, RCV004754262
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>Shemanko et al. (1998) described a heterozygous T-to-C transition in the KRT14 gene, resulting in a met119-to-thr (M119T) substitution, in a patient with an EBS Dowling-Meara phenotype (EBS1A; 131760) with severe palmoplantar hyperkeratosis. The patient was a 41-year-old man whose case had been included previously in 2 brief reports. He had widespread skin fragility and blistering from birth. From early childhood he developed gross palmoplantar hyperkeratosis resulting in flexion contractures of the hands and considerable functional and cosmetic difficulties. The patient's sibs and parents were clinically normal. </p><p>In a 3-year-old boy (family 1) with generalized severe EBS and a hoarse cry, Cummins et al. (2001) identified heterozygosity for a de novo c.416T-C transition in exon 1 of the KRT14 gene, resulting in the previously reported M119T substitution within the highly conserved helix initiation motif of the alpha-helical rod. The authors noted that the proband experienced early onset of unusually severe palmoplantar hyperkeratosis, similar to the 41-year-old man with the M119T variant reported by Shemanko et al. (1998). </p><p>In 2 French boys (patients 1 and 2) with generalized severe EB simplex who developed marked palmoplantar keratoderma in the first months of life, Titeux et al. (2006) identified heterozygosity for the M119T substitution in the KRT14 gene, which occurred de novo in both probands. Immunocytochemistry in patient keratinocytes revealed numerous KRT14 filament aggregates after hypoosmotic shock, whereas none were seen in control cells. </p><p>See also M119I (148066.0010) and M119V (148066.0022) for other mutations affecting the same codon. Noting the distinct EBS phenotypes resulting from different substitutions at the M119 residue, Cummins et al. (2001) suggested that a more severe phenotype might result from greater perturbation of coiled-coil interactions by replacement of the hydrophobic methionine with hydrophilic threonine, whereas with conversion to isoleucine or valine, hydrophobicity is maintained. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0010 EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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KRT14, MET119ILE
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<br />
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SNP: rs57358989,
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ClinVar: RCV000015724, RCV000056709
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with localized EBS of the Weber-Cockayne type (EBS1C; 131800), Chen et al. (1995) found a 417G-A transition in the KRT14 gene, resulting in a met119-to-ile (M119I) substitution. </p><p>Hu et al. (1997) reported a large 6-generation French-Portuguese family (Ta) with localized EBS (EBS1C) due to a heterozygous M119I mutation. Blistering began around 1 year of age and was limited to the hands and feet. There was disease exacerbation in the summer, and the disorder tended to decrease with age. </p><p>See also M119T (148066.0009) and M119V (148066.0022) for other mutations affecting the same codon. Noting the distinct EBS phenotypes resulting from different substitutions at the M119 residue, Cummins et al. (2001) suggested that a more severe phenotype might result from greater perturbation of coiled-coil interactions by replacement of the hydrophobic methionine with hydrophilic threonine, whereas with conversion to isoleucine or valine, hydrophobicity is maintained. </p><p><strong><em>Homozygosity for M119I</em></strong></p><p>
|
|
In the family with EBS1C reported by Hu et al. (1997), one family member, born of a consanguineous union, was homozygous for the mutation. This patient had a more severe phenotype, with earlier onset, more generalized blistering, and involvement of the oral, vaginal, and anal mucosa. Since age 14, blistering has been limited to the hands and feet. The distal skin was scarred, all 10 toenails were missing, and small areas of palmar hyperkeratosis were present. Hu et al. (1997) concluded that this mutation acts as a 'partial dominant' in that heterozygotes have milder localized disease and homozygotes have a more severe disease. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0011 EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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KRT14, TYR415HIS
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<br />
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SNP: rs58380626,
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ClinVar: RCV000056685, RCV001731185
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with generalized epidermolysis bullosa simplex of the Koebner type (EBS1B; 131900), Hut et al. (2000) identified a de novo heterozygous T-to-C transition at nucleotide 3634 (c.3634T-C) in exon 6 of the KRT14 gene resulting in a tyr415-to-his (Y415H) mutation in the helix termination motif of the keratin-14 rod domain 2B. The mutation was identified using a restriction enzyme strategy to eliminate a KRT14 pseudogene that complicates KRT14 mutation detection in genomic DNA. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0012 EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE</strong>
|
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</span>
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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KRT14, LEU419GLN
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<br />
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|
|
SNP: rs57364972,
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|
|
ClinVar: RCV000015727, RCV000056691
|
|
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|
|
</span>
|
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with Dowling-Meara epidermolysis bullosa simplex (EBS1A; 131760), Hut et al. (2000) identified a de novo heterozygous T-to-A transversion at nucleotide position 3647 (c.3647T-A) in exon 6 of the KRT14 gene, resulting in a leu419-to-gln (L419Q) mutation in the helix termination motif of the keratin-14 rod domain 2B. The mutation was identified using a restriction enzyme strategy to eliminate a KRT14 pseudogene that complicates KRT14 mutation detection in genomic DNA. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0013 EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
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<span class="mim-text-font">
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|
KRT14, GLU422LYS
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<br />
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SNP: rs58762773,
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|
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gnomAD: rs58762773,
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|
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ClinVar: RCV000056692, RCV001731186
|
|
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|
|
</span>
|
|
</div>
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|
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<div>
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<span class="mim-text-font">
|
|
<p>In 2 patients with the Weber-Cockayne type of epidermolysis bullosa simplex (EBS1C; 131800), Hut et al. (2000) identified a heterozygous G-to-A transition at nucleotide position 3655 (c.3655G-A) in exon 6 of the KRT14 gene resulting in a glu422-to-lys (E422K) mutation in the helix termination motif of the keratin 14 rod domain 2B. The mutation was identified using a restriction enzyme strategy to eliminate a KRT14 pseudogene that complicates KRT14 mutation detection in genomic DNA. </p>
|
|
</span>
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|
</div>
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<div>
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|
<br />
|
|
</div>
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</div>
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|
<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
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<span class="mim-text-font">
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|
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|
KRT14, 1-BP DEL, 92T
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<br />
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|
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SNP: rs60231560,
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gnomAD: rs60231560,
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ClinVar: RCV000015729, RCV000056760, RCV001291416, RCV001814040
|
|
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|
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a child, born of consanguineous Pakistani parents, with a mild form of autosomal recessive epidermolysis bullosa simplex (EBS1D; 601001), Batta et al. (2000) reported a homozygous mutation (92delT) in codon 31 of the KRT14 gene. This mutation causes a frameshift that results in a premature termination codon further downstream in exon 1 and was predicted to encode a protein of 116 amino acids, of which the first 30 are identical to the normal KRT14 sequence and the remaining 86 residues are missense sequence. There was complete absence of KRT14 in the epidermis and the child exhibited only mild to moderate disease. The unaffected mother was heterozygous for the mutation. The K14-negative basal epidermal cells from the patient stained positively for K15 (148030), suggesting that upregulation of expression of K15 may have compensated for the loss of K14. </p>
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
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|
<div>
|
|
|
|
<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT14, 1-BP DEL, 17G
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|
|
<br />
|
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|
|
SNP: rs267607390,
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|
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|
|
gnomAD: rs267607390,
|
|
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|
|
|
ClinVar: RCV000015730, RCV000056695
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In the historic multigenerational Swiss family in which Naegeli-Franceschetti-Jadassohn syndrome (NFJS; 161000) was first reported by Naegeli (1927), with follow-up by Franceschetti and Jadassohn (1954) and Itin et al. (1993), Lugassy et al. (2006) found a heterozygous frameshift mutation in the KRT14 gene: a heterozygous guanosine deletion at position 17 (17delG) of the KRT14 cDNA sequence (numbering starting from the initiation codon). This mutation was predicted to result in a frameshift and to generate a stop codon 8 amino acids downstream of the mutation site. </p>
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 DERMATOPATHIA PIGMENTOSA RETICULARIS (1 family)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT14, CYS18TER
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|
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|
|
|
<br />
|
|
|
|
SNP: rs60831116,
|
|
|
|
|
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gnomAD: rs60831116,
|
|
|
|
|
|
ClinVar: RCV000015731, RCV000056744
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Studying a family from the United States with the diagnosis of dermatopathia pigmentosa reticularis (DPR; 125595), first reported by Heimer et al. (1992), Lugassy et al. (2006) demonstrated a heterozygous C-to-A transversion at cDNA position 54 of KRT14, resulting in the nonsense mutation cys 18 to ter (C18X). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT14, 2-BP DEL, NT313
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs57278315,
|
|
|
|
|
|
|
|
ClinVar: RCV000015732, RCV000056703
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient, born of consanguineous parents, with a severe form of generalized epidermolysis bullosa (EBS1D; 601001), Rugg et al. (1994) identified a homozygous 2-bp deletion (313_314del) in the KRT14 gene, resulting in premature termination. The was no KRT14 expression in the skin and no intermediate filaments were seen in the basal cells of the epidermis. Each unaffected parent was heterozygous for the mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT14, ASN123SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs60171927,
|
|
|
|
|
|
|
|
ClinVar: RCV000015733, RCV000056713
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 unrelated probands (patients 1, 12, 15, and 18) with Dowling-Meara EBS (EBS1A; 131760), Pfendner et al. (2005) identified a heterozygous mutation in the KRT14 gene, resulting in an asn123-to-ser (N123S) substitution. The mutation was shown to have occurred de novo in each case. All of the patients had severe generalized blistering with oral mucous membrane involvement. The affected residue is within the 1A domain of the molecule and was predicted to severely perturb the intermediate filament network. </p><p>From a cohort of 33 newborns with generalized severe EBS who were reported to the National Health Service of the UK over a 15-year period and underwent genetic analysis, Sathishkumar et al. (2016) identified 2 patients who were heterozygous for the N123S mutation in the KRT14 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT14, GLN7TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267607391,
|
|
|
|
|
|
gnomAD: rs267607391,
|
|
|
|
|
|
ClinVar: RCV000056699, RCV000415603
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 3 families from the United Kingdom with Naegeli-Franceschetti-Jadassohn syndrome (NFJS; 161000), Lugassy et al. (2006) identified heterozygosity for a C-to-T transition in the KRT14 gene that resulted in a gln7-to-ter (Q7X) substitution within the E1/V1 (head) domain. The mutation segregated fully with the disorder in each family, and haplotype analysis suggested that NFJS in these 3 families might be caused by a founder mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT14, 18-BP DEL, NT1241
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2144582186,
|
|
|
|
|
|
|
|
ClinVar: RCV001775534
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Iranian male proband (family 10) with generalized severe skin blistering and extensive palmoplantar keratoderma (EBS1A; 131760), Vahidnezhad et al. (2016) identified heterozygosity for a de novo in-frame 18-bp deletion (c.1241del18) in exon 6 of the KRT14 gene, resulting in deletion of 6 amino acids within the 2B domain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT14, ILE377THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs61536893,
|
|
|
|
|
|
|
|
ClinVar: RCV000056665, RCV001777147
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Scottish proband (family 15) with skin blistering limited to the hands and feet (EBS1C; 131800), Rugg et al. (2007) identified heterozygosity for a c.1130T-C transition in the KRT14 gene, resulting in an ile377-to-thr (I377T) substitution near the stutter region within helix 2B. Skin biopsy revealed keratin aggregates, and the cleavage plane was through the cytoplasm of the basal keratinocytes. The proband was the only family member examined, and familial segregation was not reported. </p><p>In a large Iranian family (family 9) in which 14 members over 4 generations experienced mild skin blistering limited to the palms and soles, Vahidnezhad et al. (2016) identified heterozygosity for the I377T mutation in KRT14. </p><p><strong><em>Homozygosity for I377T</em></strong></p><p>
|
|
Three family members in family 9 reported by Vahidnezhad et al. (2016), who were born of consanguineous unions and exhibited more generalized lesions, were found to be homozygous for the I377T variant. The authors designated this family as having a 'semidominant' mode of inheritance. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT14, MET119VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs61263401,
|
|
|
|
|
|
|
|
ClinVar: RCV000056707, RCV001778697, RCV002247454
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 affected members over 3 generations (family 2) with the Koebner type of EBS (EBS1B; 131900), Cummins et al. (2001) identified heterozygosity for a c.415A-G transition in the KRT14 gene, resulting in a met119-to-val (M119V) substitution at a residue within the highly conserved helix initiation motif of the alpha-helical rod. The mutation was not found in 3 unaffected family members. </p><p>See also M119T (148066.0009) and M119I (148066.0010) for other mutations affecting the same codon. Noting the distinct EBS phenotypes resulting from different substitutions at the M119 residue, Cummins et al. (2001) suggested that a more severe phenotype might result from greater perturbation of coiled-coil interactions by replacement of the hydrophobic methionine with hydrophilic threonine, whereas with conversion to isoleucine or valine, hydrophobicity is maintained. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT14, GLU411TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs61664582,
|
|
|
|
|
|
|
|
ClinVar: RCV000056678, RCV001778695
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 31-year-old Japanese woman with the Koebner type of EBS (EBS1B; 131900), Gu et al. (2002) identified heterozygosity for a c.1231G-T transversion in the KRT14 gene, resulting in a glu411-to-ter (E411X) substitution at a residue in the 'g' position, which stabilizes the coiled-coil by forming salt bridges. The truncated protein lacks the last 16 amino acid residues of the helix termination peptide 2B and the entire tail domain. DNA was unavailable from the proband's affected sons, but the mutation was not found in 50 unrelated control DNA samples. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0024 EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT14, 1-BP DEL, 1246C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs58357841,
|
|
|
|
|
|
gnomAD: rs58357841,
|
|
|
|
|
|
ClinVar: RCV000056687, RCV001778696
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 2-year-old French boy (patient 3) with generalized severe EB simplex (EBS1A; 131760), Titeux et al. (2006) identified heterozygosity for a de novo 1-bp deletion (c.1246delC) in exon 6 of the KRT14 gene, causing a frameshift resulting in a premature termination codon (Arg416AlafsTer26) and a protein lacking the helix termination peptide and the tail domain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
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<span class="mim-text-font">
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Bonifas et al. (1991)
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