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Entry
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- *148067 - KERATIN 16, TYPE I; KRT16
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*148067</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/148067">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000186832;t=ENST00000301653" 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=3868" 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=148067" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000186832;t=ENST00000301653" 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_005557" 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_005557" 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=148067" 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=01018&isoform_id=01018_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/KRT16" 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/186685,1000377,1195531,4091879,4321795,7717238,23503075,24430192,24659602,119581153,158255142" 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/P08779" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=3868" 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=ENSG00000186832;t=ENST00000301653" 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=KRT16" 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=KRT16" 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+3868" 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/KRT16" 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:3868" 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/3868" 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=ENST00000301653.9&hgg_start=41609778&hgg_end=41612767&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/krt16" 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=148067[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=148067[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/ENSG00000186832" 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=KRT16" 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=KRT16" 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=KRT16&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/PA30210" 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:6423" 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:96690" 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/KRT16#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:96690" 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/3868/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/OMIA002088/" 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=3868" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00002058;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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</div>
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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">
|
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<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:3868" 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=KRT16&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> 39427000<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>
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148067
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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 16, TYPE I; KRT16
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
K16<br />
|
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KA16
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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">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=KRT16" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">KRT16</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>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/17/550?start=-3&limit=10&highlight=550">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=chr17:41609778-41612767&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'})">17:41,609,778-41,612,767</a> </span>
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</em>
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</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>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
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</div>
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
|
|
Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=167200,613000" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
|
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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>
|
|
</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/550?start=-3&limit=10&highlight=550">
|
|
17q21.2
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Pachyonychia congenita 1
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/167200"> 167200 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
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<td>
|
|
<span class="mim-font">
|
|
Palmoplantar keratoderma, nonepidermolytic, focal
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/613000"> 613000 </a>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
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</span>
|
|
</td>
|
|
</tr>
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</tbody>
|
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</table>
|
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/148067" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/148067" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<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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</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="text" class="mim-anchor"></a>
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<h4>
|
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|
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<span class="mim-font">
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<p>KRT16 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. KRT16 is constitutively expressed in most stratified squamous epithelia, but it is only transiently expressed in epidermis during hyperproliferation (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="#10" 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="#10" 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> obtained a genomic clone containing the human K16 gene. The predicted 472-amino acid K16 protein contains a large alpha-helical domain. Northern blot analysis detected a 1.6-kb K16 transcript in cultured human epidermal cells and in a squamous cell carcinoma cell line. K16 had an apparent molecular mass of 48 kD by SDS-PAGE. <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><p><a href="#8" class="mim-tip-reference" title="Paladini, R. D., Takahashi, K., Gant, T. M., Coulombe, P. A. <strong>cDNA cloning and bacterial expression of the human type I keratin 16.</strong> Biochem. Biophys. Res. Commun. 215: 517-523, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7487986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7487986</a>] [<a href="https://doi.org/10.1006/bbrc.1995.2495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7487986">Paladini et al. (1995)</a> cloned keratin-16 by applying RT-PCR on total RNA extracted from cultured primary human epidermal keratinocytes. The KRT16 cDNA encodes a deduced 473-amino acid protein with a calculated molecular mass of 48 kD. The protein shares strong sequence homology with the type I keratins KRT14 (<a href="/entry/148066">148066</a>) and KRT17 (<a href="/entry/148069">148069</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7487986" 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="#4" 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, KRT16 was expressed throughout the duct region and also in the deeper secretory portion of the gland. In plantar epidermis, KRT16 was expressed only in the basal layer and in 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>
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<p><a href="#10" 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 the KRT16 gene contains 8 exons. <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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<p><a href="#10" 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 KRT16 gene to chromosome 17. <a href="#9" 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 genes, as well as a yet-uncharacterized keratin gene, had been localized to chromosome 17q12-q21. Another cluster of genes located at chromosome 17p12-p11 contains a nonfunctional gene for KRT16 and 2 genes for KRT14, at least 1 of which is 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>
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<p>In a sporadic case of the Jadassohn-Lewandowsky type of pachyonychia congenita (PC1; <a href="/entry/167200">167200</a>), <a href="#6" class="mim-tip-reference" title="McLean, W. H. I., Rugg, E. L., Lunny, D. P., Morley, S. M., Lane, E. B., Swensson, O., Dopping-Hepenstal, P. J. C., Griffiths, W. A. D., Eady, R. A. J., Higgins, C., Navsaria, H. A., Leigh, I. M., Strachan, T., Kunkeler, L., Munro, C. S. <strong>Keratin 16 and keratin 17 mutations cause pachyonychia congenita.</strong> Nature Genet. 9: 273-278, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7539673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7539673</a>] [<a href="https://doi.org/10.1038/ng0395-273" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7539673">McLean et al. (1995)</a> identified heterozygosity for a leu132-to-pro mutation (<a href="#0001">148067.0001</a>) in the helix initiation peptide of keratin-16. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7539673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The helix initiation motif (HIM) of KRT16 is a short sequence of about 20 amino acids at the start of the central alpha-helical rod domain whose sequence is conserved in all type I or acidic keratins. Most strongly dominant-negative mutations in keratins have been found to be missense (or occasionally in-frame deletion) mutations in this sequence or the equivalent sequence at the end of the rod domain, the helix termination motif (<a href="#7" class="mim-tip-reference" title="McLean, W. H. I. <strong>Personal Communication.</strong> Philadelphia, Pa. 2/26/1997."None>McLean, 1997</a>). The helix initiation motif of KRT16 is KVTMQNLNDRLASYLDKA. It is the practice of keratin researchers to refer to mutations by the number of the amino acid affected in the helix 1A domain. Thus, the first mutation to be identified (<a href="#0001">148067.0001</a>) can alternatively be designated leu132-to-pro or leu15-to-pro.</p><p><a href="#11" class="mim-tip-reference" title="Shamsher, M. K., Navsaria, H. A., Stevens, H. P., Ratnavel, R. C., Purkis, P. E., McLean, W. H., Cook. L. J., Griffiths, W. A. D., Geschmeissner, S., Spurr, N., Leigh, I. M. <strong>Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families.</strong> Hum. Molec. Genet. 4: 1875-1881, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8595410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8595410</a>] [<a href="https://doi.org/10.1093/hmg/4.10.1875" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8595410">Shamsher et al. (1995)</a> identified mutations in the helix initiation domain of the KRT16 gene (<a href="#0002">148067.0002</a>-<a href="#0003">148067.0003</a>) in 2 unrelated families with focal nonepidermolytic palmoplantar keratoderma (FNEPPK1; <a href="/entry/613000">613000</a>). These mutations did not appear to cause epidermolysis on light or electron microscopy, which may reflect differences in function, assembly, or interaction of the 'hyperproliferative' or 'mucoregenerative' keratins from other major types of keratins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8595410" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="McLean, W. H. I. <strong>Personal Communication.</strong> Philadelphia, Pa. 2/26/1997."None>McLean (1997)</a> pointed out that 2 families studied by <a href="#11" class="mim-tip-reference" title="Shamsher, M. K., Navsaria, H. A., Stevens, H. P., Ratnavel, R. C., Purkis, P. E., McLean, W. H., Cook. L. J., Griffiths, W. A. D., Geschmeissner, S., Spurr, N., Leigh, I. M. <strong>Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families.</strong> Hum. Molec. Genet. 4: 1875-1881, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8595410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8595410</a>] [<a href="https://doi.org/10.1093/hmg/4.10.1875" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8595410">Shamsher et al. (1995)</a> had mild nail changes similar to those that occur in a much more severe form in pachyonychia congenita. <a href="#7" class="mim-tip-reference" title="McLean, W. H. I. <strong>Personal Communication.</strong> Philadelphia, Pa. 2/26/1997."None>McLean (1997)</a> concluded that expression of the nail dystrophy in addition to the palmoplantar keratoderma is not dependent on the specific mutation, as this has been found to vary greatly within large families. Phenotype seems to vary greatly in all keratin diseases, even among persons with the same mutation, so there are probably modifier genes and/or environmental influences yet to be defined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8595410" 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 father and son with classic PC1 and a 3-generation family with mild focal NEPPK, <a href="#13" class="mim-tip-reference" title="Smith, F. J. D., Fisher, M. P., Healy, E., Rees, J. L., Bonifas, J. M., Epstein, E. H., Jr., Tan, E. M. L., Uitto, J., McLean, W. H. I. <strong>Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.</strong> Exp. Derm. 9: 170-177, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10839714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10839714</a>] [<a href="https://doi.org/10.1034/j.1600-0625.2000.009003170.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10839714">Smith et al. (2000)</a> identified a heterozygous mutation (L124R; <a href="#0007">148067.0007</a>) and a complex deletion (<a href="#0011">148067.0011</a>) in the KRT16 gene, respectively. The authors noted that the deletion, which removes a K16 helix termination motif, unexpectedly resulted in a relatively mild phenotype. Studies in cultured epithelial cells demonstrated morphologic differences in the K16 aggregates produced by the missense and the deletion mutations; in addition, the L124R mutation appeared to cause complete collapse of the endogenous filament network, whereas some residual filamentous keratin was seen in cells expressing the deletion, implying that the deleted K16 may be less capable of disrupting keratin filaments by dominant-negative interference compared to the L124R mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10839714" 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 patient with unilateral palmoplantar verrucous nevus, <a href="#17" class="mim-tip-reference" title="Terrinoni, A., Puddu, P., Didona, B., De Laurenzi, V., Candi, E., Smith, F. J. D., McLean, W. H. I., Melino, G. <strong>A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus.</strong> J. Invest. Derm. 114: 1136-1140, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10844556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10844556</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2000.00983.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10844556">Terrinoni et al. (2000)</a> reported somatic mosaicism for a 12-bp deletion in the KRT16 gene in a biopsy from lesional epidermis. The patient had localized thickening of the skin in parts of the right palm and the right sole, following the Blaschko lines (see <a href="/entry/613000">613000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10844556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Smith, F. J. D., Liao, H., Cassidy, A. J., Stewart, A., Hamill, K. J., Wood, P., Joval, I., van Steensel, M. A. M., Bjorck, E., Callif-Daley, F., Pals, G., Collins, P., Leachman, S. A., Munro, C. S., McLean, W. H. I. <strong>The genetic basis of pachyonychia congenita.</strong> J. Invest. Derm. Symp. Proc. 10: 21-30, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16250206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16250206</a>] [<a href="https://doi.org/10.1111/j.1087-0024.2005.10204.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16250206">Smith et al. (2005)</a> identified keratin mutations in 30 probands from the International Pachyonychia Congenita Research Registry, including 8 patients with mutations in the KRT16 gene (see, e.g., <a href="#0001">148067.0001</a>-<a href="#0003">148067.0003</a> and <a href="#0012">148067.0012</a>). Noting the variability in phenotype caused by mutations at the same codon or by identical mutations in different probands (see, e.g., <a href="#0003">148067.0003</a>), <a href="#14" class="mim-tip-reference" title="Smith, F. J. D., Liao, H., Cassidy, A. J., Stewart, A., Hamill, K. J., Wood, P., Joval, I., van Steensel, M. A. M., Bjorck, E., Callif-Daley, F., Pals, G., Collins, P., Leachman, S. A., Munro, C. S., McLean, W. H. I. <strong>The genetic basis of pachyonychia congenita.</strong> J. Invest. Derm. Symp. Proc. 10: 21-30, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16250206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16250206</a>] [<a href="https://doi.org/10.1111/j.1087-0024.2005.10204.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16250206">Smith et al. (2005)</a> suggested that a combination of factors, genetic and environmental, might be involved in determining the overall clinical phenotype in keratin disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16250206" 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 Chinese mother and daughter with pachyonychia congenita, <a href="#3" class="mim-tip-reference" title="Du, Z.-F., Xu, C.-M., Zhao, Y., Liu, W.-T., Chen, X.-L., Chen, C.-Y., Fang, H., Ke, H.-P., Zhang, X.-N. <strong>Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.</strong> Europ. J. Derm. 22: 476-480, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22668561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22668561</a>] [<a href="https://doi.org/10.1684/ejd.2012.1773" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22668561">Du et al. (2012)</a> identified heterozygosity for a KRT16 missense mutation (N125G; <a href="#0013">148067.0013</a>). The mother had severe hypertrophic dystrophy of the toenails in addition to palmoplantar keratoderma, whereas her 5-year-old daughter exhibited only focal plantar hyperkeratoses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22668561" 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="#5" class="mim-tip-reference" title="Lessard, J. C., Coulombe, P. A. <strong>Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.</strong> J. Invest. Derm. 132: 1384-1391, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22336941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22336941</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22336941[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/jid.2012.6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22336941">Lessard and Coulombe (2012)</a> generated Krt16 -/- mice and observed failure to thrive and increased postnatal mortality, with more than 30% of mice dying within 24 hours of birth and over 60% before weaning age. The survivors continued to grow and gained weight but remained smaller and lighter than their littermate controls. Hyperplastic lesions on the dorsal midline posterior tongue were observed in all mutant mice by postnatal day 3 (P3). Surviving mice no longer had visible lesions, but tongue architecture showed thickened epithelium and loss of normal filiform papillae; the authors suggested that the oral lesions might be painful and affect feeding behavior. Starting at 4 to 6 weeks of age, Krt16 -/- mice developed prominent hyperkeratotic calluses of both the front and hind paws, particularly in areas of high physical impact, consistent with the KRT16-associated focal PPK observed in humans. Adult mutant mice were significantly less active than control animals, which the authors hypothesized was the result of substantial discomfort due to the palmoplantar lesions. Reduced filaggrin expression in established front paw calluses was observed, indicating focal loss of barrier protection. In contrast to human disease, nail morphology was not affected in Krt16 -/- mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22336941" 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 sporadic case of the Jadassohn-Lewandowsky type of pachyonychia congenita (PC1; <a href="/entry/167200">167200</a>), <a href="#6" class="mim-tip-reference" title="McLean, W. H. I., Rugg, E. L., Lunny, D. P., Morley, S. M., Lane, E. B., Swensson, O., Dopping-Hepenstal, P. J. C., Griffiths, W. A. D., Eady, R. A. J., Higgins, C., Navsaria, H. A., Leigh, I. M., Strachan, T., Kunkeler, L., Munro, C. S. <strong>Keratin 16 and keratin 17 mutations cause pachyonychia congenita.</strong> Nature Genet. 9: 273-278, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7539673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7539673</a>] [<a href="https://doi.org/10.1038/ng0395-273" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7539673">McLean et al. (1995)</a> identified heterozygosity for a leu132-to-pro (L130P) mutation in the helix initiation motif of keratin-16. An alternative designation for this mutation is L15P. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7539673" 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 probands with pachyonychia congenita, <a href="#14" class="mim-tip-reference" title="Smith, F. J. D., Liao, H., Cassidy, A. J., Stewart, A., Hamill, K. J., Wood, P., Joval, I., van Steensel, M. A. M., Bjorck, E., Callif-Daley, F., Pals, G., Collins, P., Leachman, S. A., Munro, C. S., McLean, W. H. I. <strong>The genetic basis of pachyonychia congenita.</strong> J. Invest. Derm. Symp. Proc. 10: 21-30, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16250206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16250206</a>] [<a href="https://doi.org/10.1111/j.1087-0024.2005.10204.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16250206">Smith et al. (2005)</a> identified heterozygosity for a c.395T-C transition in the KRT16 gene, resulting in the L130P substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16250206" 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 4-generation family with focal nonepidermolytic palmoplantar keratoderma (FNEPPK1; <a href="/entry/613000">613000</a>), previously studied by <a href="#16" class="mim-tip-reference" title="Stevens, H. P., Kelsell, D. P., Spurr, N. K., Bishop, D. T., Purkis, P. E., Griffiths, W. A. D., Rustin, M. H. A., Leigh, I. M. <strong>Keratin staining and linkage of non-epidermolytic focal palmoplantar keratoderma (PPK) to 17q. (Abstract)</strong> Brit. J. Derm. 131: 425, 1994."None>Stevens et al. (1994)</a>, in which affected individuals also had follicular and orogenital hyperkeratosis, <a href="#11" class="mim-tip-reference" title="Shamsher, M. K., Navsaria, H. A., Stevens, H. P., Ratnavel, R. C., Purkis, P. E., McLean, W. H., Cook. L. J., Griffiths, W. A. D., Geschmeissner, S., Spurr, N., Leigh, I. M. <strong>Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families.</strong> Hum. Molec. Genet. 4: 1875-1881, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8595410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8595410</a>] [<a href="https://doi.org/10.1093/hmg/4.10.1875" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8595410">Shamsher et al. (1995)</a> identified heterozygosity for an arg127-to-cys (R127C) substitution in the KRT16 gene at a highly conserved residue in the helix initiation motif of the 1A domain. The mutation was not found in unaffected family members or 20 controls. An alternative designation for this mutation is R10C. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8595410" 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 sporadic patient with FNEPPK, <a href="#14" class="mim-tip-reference" title="Smith, F. J. D., Liao, H., Cassidy, A. J., Stewart, A., Hamill, K. J., Wood, P., Joval, I., van Steensel, M. A. M., Bjorck, E., Callif-Daley, F., Pals, G., Collins, P., Leachman, S. A., Munro, C. S., McLean, W. H. I. <strong>The genetic basis of pachyonychia congenita.</strong> J. Invest. Derm. Symp. Proc. 10: 21-30, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16250206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16250206</a>] [<a href="https://doi.org/10.1111/j.1087-0024.2005.10204.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16250206">Smith et al. (2005)</a> identified heterozygosity for a c.379C-T transition in the KRT16 gene, resulting in the R127C substitution. The patient exhibited palmoplantar keratoderma without nail changes or oral lesions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16250206" 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">rs60723330 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs60723330;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=rs60723330" 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=rs60723330" 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=RCV000015706 OR RCV000057037 OR RCV000144080 OR RCV000763397" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015706, RCV000057037, RCV000144080, RCV000763397" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015706...</a>
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<p>In a father and daughter with focal nonepidermolytic palmoplantar keratoderma (FNEPPK1; <a href="/entry/613000">613000</a>), who also had follicular and orogenital hyperkeratosis, <a href="#11" class="mim-tip-reference" title="Shamsher, M. K., Navsaria, H. A., Stevens, H. P., Ratnavel, R. C., Purkis, P. E., McLean, W. H., Cook. L. J., Griffiths, W. A. D., Geschmeissner, S., Spurr, N., Leigh, I. M. <strong>Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families.</strong> Hum. Molec. Genet. 4: 1875-1881, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8595410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8595410</a>] [<a href="https://doi.org/10.1093/hmg/4.10.1875" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8595410">Shamsher et al. (1995)</a> identified heterozygosity for an asn125-to-ser (N125S) substitution in the KRT16 gene at a highly conserved residue in the helix initiation motif of the 1A domain. The mutation was not found in 20 controls. An alternative designation for this mutation is N8S. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8595410" 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 probands, 1 from a family with pachyonychia congenita (PC1; <a href="/entry/167200">167200</a>) and 1 from a family with FNEPPK, <a href="#14" class="mim-tip-reference" title="Smith, F. J. D., Liao, H., Cassidy, A. J., Stewart, A., Hamill, K. J., Wood, P., Joval, I., van Steensel, M. A. M., Bjorck, E., Callif-Daley, F., Pals, G., Collins, P., Leachman, S. A., Munro, C. S., McLean, W. H. I. <strong>The genetic basis of pachyonychia congenita.</strong> J. Invest. Derm. Symp. Proc. 10: 21-30, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16250206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16250206</a>] [<a href="https://doi.org/10.1111/j.1087-0024.2005.10204.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16250206">Smith et al. (2005)</a> identified heterozygosity for a c.374A-G transition in KRT16, resulting in the N125S substitution. The proband from the family with PC showed typical hypertrophic nail dystrophy in 17 of 20 nails, whereas the proband from the FNEPPK family exhibited no nail thickening and had only minor splinter hemorrhages of the nails. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16250206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 PACHYONYCHIA CONGENITA 1</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">rs58181827 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs58181827;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=rs58181827" 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=rs58181827" 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=RCV000015707 OR RCV000057041" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015707, RCV000057041" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015707...</a>
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<p>In a sporadic case of pachyonychia congenita described as the Jadassohn-Lewandowsky type (PC1; <a href="/entry/167200">167200</a>), <a href="#15" class="mim-tip-reference" title="Smith, F. J. D., McKusick, V. A., Nielsen, K., Pfendner, E., Uitto, J., McLean, W. H. I. <strong>Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1.</strong> Prenatal Diag. 19: 941-946, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521820</a>]" pmid="10521820">Smith et al. (1999)</a> identified heterozygosity for a 3-bp deletion (c.388del3) in the KRT16 gene, resulting in deletion of ser130. Using a genomic PCR system, they carried out the first prenatal diagnosis of this disorder using CVS material and correctly predicted a normal fetus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10521820" 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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KRT16, ARG127PRO
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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> rs57424749 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs57424749;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/rs57424749?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=rs57424749" 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=rs57424749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015708 OR RCV000057039" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015708, RCV000057039" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015708...</a>
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<p>In a family of Dutch origin with pachyonychia congenita described as the Jadassohn-Lewandowsky type (PC1; <a href="/entry/167200">167200</a>), <a href="#12" class="mim-tip-reference" title="Smith, F. J. D., Del Monaco, M., Steijlen, P. M.., Munro, C. S.., Morvay, M., Coleman, C. M., Rietveld, F. J. R., Uitto, J., McLean, W. H. I. <strong>Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1.</strong> Brit. J. Derm. 141: 1010-1016, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10606845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10606845</a>] [<a href="https://doi.org/10.1046/j.1365-2133.1999.03198.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10606845">Smith et al. (1999)</a> identified a heterozygous c.380G-C transversion in the KRT16 gene, resulting in an arg127-to-pro (R127P) amino acid change, using a novel long-range PCR strategy that eliminated amplification of KRT16 pseudogenes. This mutation affected the helix 1A domain of the KRT16 polypeptide. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10606845" 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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KRT16, GLN122PRO
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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> rs59349773 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs59349773;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/rs59349773?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=rs59349773" 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=rs59349773" 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=RCV000015709 OR RCV000057031" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015709, RCV000057031" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015709...</a>
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<p>In a family of Hungarian origin with pachyonychia congenita-1 (PC1; <a href="/entry/167200">167200</a>), <a href="#12" class="mim-tip-reference" title="Smith, F. J. D., Del Monaco, M., Steijlen, P. M.., Munro, C. S.., Morvay, M., Coleman, C. M., Rietveld, F. J. R., Uitto, J., McLean, W. H. I. <strong>Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1.</strong> Brit. J. Derm. 141: 1010-1016, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10606845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10606845</a>] [<a href="https://doi.org/10.1046/j.1365-2133.1999.03198.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10606845">Smith et al. (1999)</a> identified a heterozygous c.365A-C transversion in the KRT16 gene, resulting in a gln122-to-pro (Q122P) amino acid change, using a novel long-range PCR strategy that eliminated amplification of KRT16 pseudogenes. This mutation affected the helix 1A domain of the KRT16 polypeptide. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10606845" 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">rs58293603 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs58293603;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=rs58293603" 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=rs58293603" 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=RCV000015710 OR RCV000057034" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015710, RCV000057034" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015710...</a>
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<p>In a father and son with pachyonychia congenita-1 (PC1; <a href="/entry/167200">167200</a>), <a href="#13" class="mim-tip-reference" title="Smith, F. J. D., Fisher, M. P., Healy, E., Rees, J. L., Bonifas, J. M., Epstein, E. H., Jr., Tan, E. M. L., Uitto, J., McLean, W. H. I. <strong>Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.</strong> Exp. Derm. 9: 170-177, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10839714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10839714</a>] [<a href="https://doi.org/10.1034/j.1600-0625.2000.009003170.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10839714">Smith et al. (2000)</a> identified heterozygosity for a c.371T-G transversion in the KRT16 gene, resulting in a leu124-to-arg (L124R) substitution in the 1A domain of the K16 polypeptide. The mutation was not found in 50 unrelated controls. Expression of mutant K16 in the PtK2 epithelial cell line produced complete collapse of the endogenous keratin cytoskeleton into dense aggregates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10839714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0008" class="mim-anchor"></a>
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<strong>.0008 PACHYONYCHIA CONGENITA, LATE ONSET</strong>
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KRT16, LYS354ASN
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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> rs59328451 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs59328451;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/rs59328451?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=rs59328451" 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=rs59328451" 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=RCV000015711 OR RCV000057025 OR RCV004017253" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015711, RCV000057025, RCV004017253" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015711...</a>
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<p>In a girl with late-onset pachyonychia congenita (PC1; <a href="/entry/167200">167200</a>), <a href="#2" class="mim-tip-reference" title="Connors, J. B., Rahil, A. K., Smith, F. J. D., McLean, W. H. I., Milstone, L. M. <strong>Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16.</strong> Brit. J. Derm. 144: 1058-1062, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11359398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11359398</a>] [<a href="https://doi.org/10.1046/j.1365-2133.2001.04199.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11359398">Connors et al. (2001)</a> reported a lys354-to-asn (K354N) mutation in the central 2B domain of the KRT16 polypeptide. The amino acid substitution resulted from a c.1062A-T transversion in exon 6. The authors noted that this was the first time a mutation had been described in this location in a keratin other than KRT14. KRT14 mutations in region 2B (e.g., <a href="/entry/148066#0005">148066.0005</a> and <a href="/entry/148066#0012">148066.0012</a>) result in milder phenotypes. It was unclear whether the position of the mutation was sufficient to explain the late-onset PC phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11359398" 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 PACHYONYCHIA CONGENITA 1</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">rs28928894 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928894;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=rs28928894" 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=rs28928894" 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=RCV000015712 OR RCV000057030 OR RCV002496376" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015712, RCV000057030, RCV002496376" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015712...</a>
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<p>In a patient with sporadic pachyonychia congenita-1 (PC1; <a href="/entry/167200">167200</a>), <a href="#18" class="mim-tip-reference" title="Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I. <strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong> J. Invest. Derm. 117: 1391-1396, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11886499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11886499</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01565.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11886499">Terrinoni et al. (2001)</a> reported a met121-to-thr (M121T) mutation in the KRT16 protein that arose from a c.362T-C transition. This mutation in the 1A domain is also referred to as M4T. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11886499" 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>.0010 PACHYONYCHIA CONGENITA 1</strong>
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KRT16, LEU128GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928895 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928895;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=rs28928895" 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=rs28928895" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015713 OR RCV000057040" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015713, RCV000057040" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015713...</a>
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<span class="mim-text-font">
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<p>In a patient with sporadic pachyonychia congenita-1 (PC1; <a href="/entry/167200">167200</a>), <a href="#18" class="mim-tip-reference" title="Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I. <strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong> J. Invest. Derm. 117: 1391-1396, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11886499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11886499</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01565.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11886499">Terrinoni et al. (2001)</a> reported a leu128-to-gln (L128Q) mutation in the KRT16 protein that arose from a c.383T-A transversion. This mutation in the 1A domain is also referred to as L11Q. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11886499" 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="0011" class="mim-anchor"></a>
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<strong>.0011 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1</strong>
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KRT16, 23-BP DEL, NT1244 AND 1-BP DEL, 1270G
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555573633 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555573633;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=rs1555573633" 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=rs1555573633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015714" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015714" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015714</a>
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<p>In a 3-generation family with mild focal nonepidermolytic palmoplantar keratoderma (FNEPPK1; <a href="/entry/613000">613000</a>), <a href="#13" class="mim-tip-reference" title="Smith, F. J. D., Fisher, M. P., Healy, E., Rees, J. L., Bonifas, J. M., Epstein, E. H., Jr., Tan, E. M. L., Uitto, J., McLean, W. H. I. <strong>Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.</strong> Exp. Derm. 9: 170-177, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10839714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10839714</a>] [<a href="https://doi.org/10.1034/j.1600-0625.2000.009003170.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10839714">Smith et al. (2000)</a> identified heterozygosity for a complex deletion in exon 6 of the KRT16 gene, involving a 23-bp deletion (c.1244del23) together with a 1-bp deletion downstream (c.1270delG), resulting in a deletion of 8 residues and a substitution of 2 residues in the conserved helix termination motif (HTM) of the K16 polypeptide. Expression of the deleted K16 in the PtK2 epithelial cell line produced aggregates larger than those seen with an L124R mutation (<a href="#0007">148067.0007</a>), and some residual endogenous keratin was seen in filamentous form, implying that the deletion mutation may render the mutant K16 protein less able to integrate into and disrupt the endogenous network, thus resulting in a milder phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10839714" 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="0012" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0012 PACHYONYCHIA CONGENITA 1</strong>
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</span>
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</h4>
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KRT16, ASN125ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs58608173 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs58608173;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=rs58608173" 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=rs58608173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000057036 OR RCV000144081" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000057036, RCV000144081" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000057036...</a>
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<p>In a proband with severe hypertrophic nail dystrophy affecting both hands and feet (PC1; <a href="/entry/167200">167200</a>), <a href="#14" class="mim-tip-reference" title="Smith, F. J. D., Liao, H., Cassidy, A. J., Stewart, A., Hamill, K. J., Wood, P., Joval, I., van Steensel, M. A. M., Bjorck, E., Callif-Daley, F., Pals, G., Collins, P., Leachman, S. A., Munro, C. S., McLean, W. H. I. <strong>The genetic basis of pachyonychia congenita.</strong> J. Invest. Derm. Symp. Proc. 10: 21-30, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16250206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16250206</a>] [<a href="https://doi.org/10.1111/j.1087-0024.2005.10204.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16250206">Smith et al. (2005)</a> identified heterozygosity for a c.373A-G transition in the KRT16 gene, resulting in an asn125-to-asp (N125D) substitution in the highly conserved helix initiation motif of the 1A domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16250206" 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="0013" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0013 PACHYONYCHIA CONGENITA 1</strong>
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</h4>
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KRT16, ASN125GLY
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777717 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777717;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=rs587777717" 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=rs587777717" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000144082" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144082" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144082</a>
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</span>
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<p>In a 36-year-old Chinese woman with pachyonychia congenita (PC1; <a href="/entry/167200">167200</a>), <a href="#3" class="mim-tip-reference" title="Du, Z.-F., Xu, C.-M., Zhao, Y., Liu, W.-T., Chen, X.-L., Chen, C.-Y., Fang, H., Ke, H.-P., Zhang, X.-N. <strong>Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.</strong> Europ. J. Derm. 22: 476-480, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22668561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22668561</a>] [<a href="https://doi.org/10.1684/ejd.2012.1773" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22668561">Du et al. (2012)</a> identified heterozygosity for a c.373_374AA-GG transition in the KRT16 gene, resulting in an asn125-to-gly (N125G) substitution within the 1A rod domain. The proband had severe hypertrophic nail dystrophy of her toenails and palmoplantar keratoderma, whereas her 5-year-old daughter, who also carried the mutation, showed only focal plantar hyperkeratosis at pressure points, without any nail or hand involvement. Both patients reported hyperhidrosis of the hands and feet. The mutation was not found in unaffected family members or in 100 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22668561" 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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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521820</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10521820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Stevens1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stevens, H. P., Kelsell, D. P., Spurr, N. K., Bishop, D. T., Purkis, P. E., Griffiths, W. A. D., Rustin, M. H. A., Leigh, I. M.
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<strong>Keratin staining and linkage of non-epidermolytic focal palmoplantar keratoderma (PPK) to 17q. (Abstract)</strong>
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Brit. J. Derm. 131: 425, 1994.
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</p>
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</div>
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</li>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Terrinoni2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Terrinoni, A., Puddu, P., Didona, B., De Laurenzi, V., Candi, E., Smith, F. J. D., McLean, W. H. I., Melino, G.
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<strong>A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus.</strong>
|
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J. Invest. Derm. 114: 1136-1140, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10844556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10844556</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10844556" 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.1523-1747.2000.00983.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Terrinoni2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I.
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<strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong>
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J. Invest. Derm. 117: 1391-1396, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11886499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11886499</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11886499" 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.0022-202x.2001.01565.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 05/14/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 9/18/2014<br>Carol A. Bocchini - updated : 4/10/2014<br>Marla J. F. O'Neill - updated : 5/11/2010<br>Patricia A. Hartz - updated : 11/19/2009<br>Marla J. F. O'Neill - updated : 8/12/2009<br>Marla J. F. O'Neill - updated : 7/10/2009<br>Patricia A. Hartz - updated : 6/22/2007<br>Victor A. McKusick - updated : 2/22/2005<br>Gary A. Bellus - updated : 4/28/2003<br>Gary A. Bellus - updated : 3/13/2003<br>Gary A. Bellus - updated : 4/18/2002<br>Gary A. Bellus - updated : 4/12/2000<br>Victor A. McKusick - updated : 1/19/2000<br>Victor A. McKusick - updated : 3/28/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/6/1990
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 05/14/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 06/09/2023<br>carol : 02/22/2022<br>mgross : 11/11/2015<br>carol : 6/3/2015<br>carol : 9/18/2014<br>carol : 4/18/2014<br>carol : 4/11/2014<br>carol : 4/10/2014<br>wwang : 5/11/2010<br>terry : 5/11/2010<br>mgross : 12/2/2009<br>terry : 11/19/2009<br>wwang : 9/3/2009<br>wwang : 9/3/2009<br>terry : 8/12/2009<br>terry : 7/13/2009<br>carol : 7/10/2009<br>wwang : 7/2/2007<br>terry : 6/22/2007<br>carol : 4/18/2006<br>carol : 1/17/2006<br>carol : 1/17/2006<br>wwang : 3/9/2005<br>terry : 2/22/2005<br>alopez : 4/28/2003<br>alopez : 3/27/2003<br>alopez : 3/13/2003<br>alopez : 3/10/2003<br>alopez : 4/18/2002<br>alopez : 4/12/2000<br>alopez : 4/12/2000<br>carol : 1/28/2000<br>mcapotos : 1/27/2000<br>mcapotos : 1/24/2000<br>terry : 1/19/2000<br>terry : 5/29/1998<br>alopez : 7/29/1997<br>terry : 7/7/1997<br>mark : 4/14/1997<br>terry : 3/28/1997<br>terry : 3/18/1997<br>terry : 3/26/1996<br>mark : 1/5/1996<br>mark : 1/4/1996<br>mark : 6/26/1995<br>carol : 3/15/1995<br>mimadm : 4/29/1994<br>warfield : 4/12/1994<br>supermim : 3/16/1992<br>carol : 10/9/1991
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 148067
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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KERATIN 16, TYPE I; KRT16
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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K16<br />
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KA16
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: KRT16</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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 39427000;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 17q21.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:41,609,778-41,612,767 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
|
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17q21.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Pachyonychia congenita 1
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
167200
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
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Palmoplantar keratoderma, nonepidermolytic, focal
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
613000
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Autosomal dominant
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
|
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>KRT16 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. KRT16 is constitutively expressed in most stratified squamous epithelia, but it is only transiently expressed in epidermis during hyperproliferation (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>
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<h4>
|
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Rosenberg et al. (1988) obtained a genomic clone containing the human K16 gene. The predicted 472-amino acid K16 protein contains a large alpha-helical domain. Northern blot analysis detected a 1.6-kb K16 transcript in cultured human epidermal cells and in a squamous cell carcinoma cell line. K16 had an apparent molecular mass of 48 kD by SDS-PAGE. </p><p>Paladini et al. (1995) cloned keratin-16 by applying RT-PCR on total RNA extracted from cultured primary human epidermal keratinocytes. The KRT16 cDNA encodes a deduced 473-amino acid protein with a calculated molecular mass of 48 kD. The protein shares strong sequence homology with the type I keratins KRT14 (148066) and KRT17 (148069). </p><p>Langbein et al. (2005) examined the expression of several keratins in eccrine sweat gland and in plantar epidermis. In the sweat gland, KRT16 was expressed throughout the duct region and also in the deeper secretory portion of the gland. In plantar epidermis, KRT16 was expressed only in the basal layer and in the lower suprabasal layer. </p>
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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<span class="mim-text-font">
|
|
<p>Rosenberg et al. (1988) determined that the KRT16 gene contains 8 exons. </p>
|
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</span>
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<div>
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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<span class="mim-text-font">
|
|
<p>Rosenberg et al. (1988) mapped the KRT16 gene to chromosome 17. Rosenberg et al. (1991) stated that the KRT14 and KRT16 genes, as well as a yet-uncharacterized keratin gene, had been localized to chromosome 17q12-q21. Another cluster of genes located at chromosome 17p12-p11 contains a nonfunctional gene for KRT16 and 2 genes for KRT14, at least 1 of which is a pseudogene. </p>
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</span>
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<div>
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<span class="mim-text-font">
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<p>In a sporadic case of the Jadassohn-Lewandowsky type of pachyonychia congenita (PC1; 167200), McLean et al. (1995) identified heterozygosity for a leu132-to-pro mutation (148067.0001) in the helix initiation peptide of keratin-16. </p><p>The helix initiation motif (HIM) of KRT16 is a short sequence of about 20 amino acids at the start of the central alpha-helical rod domain whose sequence is conserved in all type I or acidic keratins. Most strongly dominant-negative mutations in keratins have been found to be missense (or occasionally in-frame deletion) mutations in this sequence or the equivalent sequence at the end of the rod domain, the helix termination motif (McLean, 1997). The helix initiation motif of KRT16 is KVTMQNLNDRLASYLDKA. It is the practice of keratin researchers to refer to mutations by the number of the amino acid affected in the helix 1A domain. Thus, the first mutation to be identified (148067.0001) can alternatively be designated leu132-to-pro or leu15-to-pro.</p><p>Shamsher et al. (1995) identified mutations in the helix initiation domain of the KRT16 gene (148067.0002-148067.0003) in 2 unrelated families with focal nonepidermolytic palmoplantar keratoderma (FNEPPK1; 613000). These mutations did not appear to cause epidermolysis on light or electron microscopy, which may reflect differences in function, assembly, or interaction of the 'hyperproliferative' or 'mucoregenerative' keratins from other major types of keratins. </p><p>McLean (1997) pointed out that 2 families studied by Shamsher et al. (1995) had mild nail changes similar to those that occur in a much more severe form in pachyonychia congenita. McLean (1997) concluded that expression of the nail dystrophy in addition to the palmoplantar keratoderma is not dependent on the specific mutation, as this has been found to vary greatly within large families. Phenotype seems to vary greatly in all keratin diseases, even among persons with the same mutation, so there are probably modifier genes and/or environmental influences yet to be defined. </p><p>In a father and son with classic PC1 and a 3-generation family with mild focal NEPPK, Smith et al. (2000) identified a heterozygous mutation (L124R; 148067.0007) and a complex deletion (148067.0011) in the KRT16 gene, respectively. The authors noted that the deletion, which removes a K16 helix termination motif, unexpectedly resulted in a relatively mild phenotype. Studies in cultured epithelial cells demonstrated morphologic differences in the K16 aggregates produced by the missense and the deletion mutations; in addition, the L124R mutation appeared to cause complete collapse of the endogenous filament network, whereas some residual filamentous keratin was seen in cells expressing the deletion, implying that the deleted K16 may be less capable of disrupting keratin filaments by dominant-negative interference compared to the L124R mutation. </p><p>In a patient with unilateral palmoplantar verrucous nevus, Terrinoni et al. (2000) reported somatic mosaicism for a 12-bp deletion in the KRT16 gene in a biopsy from lesional epidermis. The patient had localized thickening of the skin in parts of the right palm and the right sole, following the Blaschko lines (see 613000). </p><p>Smith et al. (2005) identified keratin mutations in 30 probands from the International Pachyonychia Congenita Research Registry, including 8 patients with mutations in the KRT16 gene (see, e.g., 148067.0001-148067.0003 and 148067.0012). Noting the variability in phenotype caused by mutations at the same codon or by identical mutations in different probands (see, e.g., 148067.0003), Smith et al. (2005) suggested that a combination of factors, genetic and environmental, might be involved in determining the overall clinical phenotype in keratin disorders. </p><p>In a Chinese mother and daughter with pachyonychia congenita, Du et al. (2012) identified heterozygosity for a KRT16 missense mutation (N125G; 148067.0013). The mother had severe hypertrophic dystrophy of the toenails in addition to palmoplantar keratoderma, whereas her 5-year-old daughter exhibited only focal plantar hyperkeratoses. </p>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Lessard and Coulombe (2012) generated Krt16 -/- mice and observed failure to thrive and increased postnatal mortality, with more than 30% of mice dying within 24 hours of birth and over 60% before weaning age. The survivors continued to grow and gained weight but remained smaller and lighter than their littermate controls. Hyperplastic lesions on the dorsal midline posterior tongue were observed in all mutant mice by postnatal day 3 (P3). Surviving mice no longer had visible lesions, but tongue architecture showed thickened epithelium and loss of normal filiform papillae; the authors suggested that the oral lesions might be painful and affect feeding behavior. Starting at 4 to 6 weeks of age, Krt16 -/- mice developed prominent hyperkeratotic calluses of both the front and hind paws, particularly in areas of high physical impact, consistent with the KRT16-associated focal PPK observed in humans. Adult mutant mice were significantly less active than control animals, which the authors hypothesized was the result of substantial discomfort due to the palmoplantar lesions. Reduced filaggrin expression in established front paw calluses was observed, indicating focal loss of barrier protection. In contrast to human disease, nail morphology was not affected in Krt16 -/- mice. </p>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>13 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 PACHYONYCHIA CONGENITA 1</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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KRT16, LEU132PRO
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<br />
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SNP: rs60944949,
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ClinVar: RCV000015704, RCV000057042
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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 sporadic case of the Jadassohn-Lewandowsky type of pachyonychia congenita (PC1; 167200), McLean et al. (1995) identified heterozygosity for a leu132-to-pro (L130P) mutation in the helix initiation motif of keratin-16. An alternative designation for this mutation is L15P. </p><p>In 2 probands with pachyonychia congenita, Smith et al. (2005) identified heterozygosity for a c.395T-C transition in the KRT16 gene, resulting in the L130P substitution. </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 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1</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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KRT16, ARG127CYS
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<br />
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SNP: rs59856285,
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ClinVar: RCV000015705, RCV000057038, RCV000578284, RCV002496375, RCV003415709
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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 4-generation family with focal nonepidermolytic palmoplantar keratoderma (FNEPPK1; 613000), previously studied by Stevens et al. (1994), in which affected individuals also had follicular and orogenital hyperkeratosis, Shamsher et al. (1995) identified heterozygosity for an arg127-to-cys (R127C) substitution in the KRT16 gene at a highly conserved residue in the helix initiation motif of the 1A domain. The mutation was not found in unaffected family members or 20 controls. An alternative designation for this mutation is R10C. </p><p>In a sporadic patient with FNEPPK, Smith et al. (2005) identified heterozygosity for a c.379C-T transition in the KRT16 gene, resulting in the R127C substitution. The patient exhibited palmoplantar keratoderma without nail changes or oral lesions. </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 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1</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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PACHYONYCHIA CONGENITA 1, INCLUDED
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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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KRT16, ASN125SER
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<br />
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SNP: rs60723330,
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ClinVar: RCV000015706, RCV000057037, RCV000144080, RCV000763397
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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 father and daughter with focal nonepidermolytic palmoplantar keratoderma (FNEPPK1; 613000), who also had follicular and orogenital hyperkeratosis, Shamsher et al. (1995) identified heterozygosity for an asn125-to-ser (N125S) substitution in the KRT16 gene at a highly conserved residue in the helix initiation motif of the 1A domain. The mutation was not found in 20 controls. An alternative designation for this mutation is N8S. </p><p>In 2 probands, 1 from a family with pachyonychia congenita (PC1; 167200) and 1 from a family with FNEPPK, Smith et al. (2005) identified heterozygosity for a c.374A-G transition in KRT16, resulting in the N125S substitution. The proband from the family with PC showed typical hypertrophic nail dystrophy in 17 of 20 nails, whereas the proband from the FNEPPK family exhibited no nail thickening and had only minor splinter hemorrhages of the nails. </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>.0004 PACHYONYCHIA CONGENITA 1</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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KRT16, 3-BP DEL, NT388
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<br />
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SNP: rs58181827,
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ClinVar: RCV000015707, RCV000057041
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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 sporadic case of pachyonychia congenita described as the Jadassohn-Lewandowsky type (PC1; 167200), Smith et al. (1999) identified heterozygosity for a 3-bp deletion (c.388del3) in the KRT16 gene, resulting in deletion of ser130. Using a genomic PCR system, they carried out the first prenatal diagnosis of this disorder using CVS material and correctly predicted a normal fetus. </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>.0005 PACHYONYCHIA CONGENITA 1</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
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|
<span class="mim-text-font">
|
|
|
|
KRT16, ARG127PRO
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<br />
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|
|
SNP: rs57424749,
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|
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gnomAD: rs57424749,
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|
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ClinVar: RCV000015708, RCV000057039
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|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family of Dutch origin with pachyonychia congenita described as the Jadassohn-Lewandowsky type (PC1; 167200), Smith et al. (1999) identified a heterozygous c.380G-C transversion in the KRT16 gene, resulting in an arg127-to-pro (R127P) amino acid change, using a novel long-range PCR strategy that eliminated amplification of KRT16 pseudogenes. This mutation affected the helix 1A domain of the KRT16 polypeptide. </p>
|
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</span>
|
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</div>
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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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 PACHYONYCHIA CONGENITA 1</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
KRT16, GLN122PRO
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<br />
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|
|
SNP: rs59349773,
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gnomAD: rs59349773,
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|
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ClinVar: RCV000015709, RCV000057031
|
|
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|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family of Hungarian origin with pachyonychia congenita-1 (PC1; 167200), Smith et al. (1999) identified a heterozygous c.365A-C transversion in the KRT16 gene, resulting in a gln122-to-pro (Q122P) amino acid change, using a novel long-range PCR strategy that eliminated amplification of KRT16 pseudogenes. This mutation affected the helix 1A domain of the KRT16 polypeptide. </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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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 PACHYONYCHIA CONGENITA 1</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT16, LEU124ARG
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<br />
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|
|
SNP: rs58293603,
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ClinVar: RCV000015710, RCV000057034
|
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</span>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a father and son with pachyonychia congenita-1 (PC1; 167200), Smith et al. (2000) identified heterozygosity for a c.371T-G transversion in the KRT16 gene, resulting in a leu124-to-arg (L124R) substitution in the 1A domain of the K16 polypeptide. The mutation was not found in 50 unrelated controls. Expression of mutant K16 in the PtK2 epithelial cell line produced complete collapse of the endogenous keratin cytoskeleton into dense aggregates. </p>
|
|
</span>
|
|
</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 PACHYONYCHIA CONGENITA, LATE ONSET</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
|
KRT16, LYS354ASN
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<br />
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|
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SNP: rs59328451,
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|
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gnomAD: rs59328451,
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|
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ClinVar: RCV000015711, RCV000057025, RCV004017253
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|
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a girl with late-onset pachyonychia congenita (PC1; 167200), Connors et al. (2001) reported a lys354-to-asn (K354N) mutation in the central 2B domain of the KRT16 polypeptide. The amino acid substitution resulted from a c.1062A-T transversion in exon 6. The authors noted that this was the first time a mutation had been described in this location in a keratin other than KRT14. KRT14 mutations in region 2B (e.g., 148066.0005 and 148066.0012) result in milder phenotypes. It was unclear whether the position of the mutation was sufficient to explain the late-onset PC phenotype. </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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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 PACHYONYCHIA CONGENITA 1</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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KRT16, MET121THR
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<br />
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|
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SNP: rs28928894,
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|
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ClinVar: RCV000015712, RCV000057030, RCV002496376
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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 sporadic pachyonychia congenita-1 (PC1; 167200), Terrinoni et al. (2001) reported a met121-to-thr (M121T) mutation in the KRT16 protein that arose from a c.362T-C transition. This mutation in the 1A domain is also referred to as M4T. </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>.0010 PACHYONYCHIA CONGENITA 1</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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KRT16, LEU128GLN
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<br />
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SNP: rs28928895,
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|
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ClinVar: RCV000015713, RCV000057040
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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 sporadic pachyonychia congenita-1 (PC1; 167200), Terrinoni et al. (2001) reported a leu128-to-gln (L128Q) mutation in the KRT16 protein that arose from a c.383T-A transversion. This mutation in the 1A domain is also referred to as L11Q. </p>
|
|
</span>
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</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
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KRT16, 23-BP DEL, NT1244 AND 1-BP DEL, 1270G
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<br />
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SNP: rs1555573633,
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ClinVar: RCV000015714
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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 3-generation family with mild focal nonepidermolytic palmoplantar keratoderma (FNEPPK1; 613000), Smith et al. (2000) identified heterozygosity for a complex deletion in exon 6 of the KRT16 gene, involving a 23-bp deletion (c.1244del23) together with a 1-bp deletion downstream (c.1270delG), resulting in a deletion of 8 residues and a substitution of 2 residues in the conserved helix termination motif (HTM) of the K16 polypeptide. Expression of the deleted K16 in the PtK2 epithelial cell line produced aggregates larger than those seen with an L124R mutation (148067.0007), and some residual endogenous keratin was seen in filamentous form, implying that the deletion mutation may render the mutant K16 protein less able to integrate into and disrupt the endogenous network, thus resulting in a milder phenotype. </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>.0012 PACHYONYCHIA CONGENITA 1</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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KRT16, ASN125ASP
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<br />
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SNP: rs58608173,
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ClinVar: RCV000057036, RCV000144081
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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 proband with severe hypertrophic nail dystrophy affecting both hands and feet (PC1; 167200), Smith et al. (2005) identified heterozygosity for a c.373A-G transition in the KRT16 gene, resulting in an asn125-to-asp (N125D) substitution in the highly conserved helix initiation motif of the 1A domain. </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>.0013 PACHYONYCHIA CONGENITA 1</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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KRT16, ASN125GLY
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<br />
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SNP: rs587777717,
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ClinVar: RCV000144082
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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 36-year-old Chinese woman with pachyonychia congenita (PC1; 167200), Du et al. (2012) identified heterozygosity for a c.373_374AA-GG transition in the KRT16 gene, resulting in an asn125-to-gly (N125G) substitution within the 1A rod domain. The proband had severe hypertrophic nail dystrophy of her toenails and palmoplantar keratoderma, whereas her 5-year-old daughter, who also carried the mutation, showed only focal plantar hyperkeratosis at pressure points, without any nail or hand involvement. Both patients reported hyperhidrosis of the hands and feet. The mutation was not found in unaffected family members or in 100 controls. </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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Albers, K., Fuchs, E.
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<strong>The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines.</strong>
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J. Cell Biol. 105: 791-806, 1987.
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[PubMed: 2442174]
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[Full Text: https://doi.org/10.1083/jcb.105.2.791]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Connors, J. B., Rahil, A. K., Smith, F. J. D., McLean, W. H. I., Milstone, L. M.
|
|
<strong>Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16.</strong>
|
|
Brit. J. Derm. 144: 1058-1062, 2001.
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[PubMed: 11359398]
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[Full Text: https://doi.org/10.1046/j.1365-2133.2001.04199.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Du, Z.-F., Xu, C.-M., Zhao, Y., Liu, W.-T., Chen, X.-L., Chen, C.-Y., Fang, H., Ke, H.-P., Zhang, X.-N.
|
|
<strong>Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.</strong>
|
|
Europ. J. Derm. 22: 476-480, 2012.
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[PubMed: 22668561]
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[Full Text: https://doi.org/10.1684/ejd.2012.1773]
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</p>
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<li>
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<p class="mim-text-font">
|
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Langbein, L., Rogers, M. A., Praetzel, S., Cribier, B., Peltre, B., Gassler, N., Schweizer, J.
|
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<strong>Characterization of a novel human type II epithelial keratin K1b, specifically expressed in eccrine sweat glands.</strong>
|
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J. Invest. Derm. 125: 428-444, 2005.
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[PubMed: 16117782]
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[Full Text: https://doi.org/10.1111/j.0022-202X.2005.23860.x]
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</p>
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<li>
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<p class="mim-text-font">
|
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Lessard, J. C., Coulombe, P. A.
|
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<strong>Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.</strong>
|
|
J. Invest. Derm. 132: 1384-1391, 2012.
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[PubMed: 22336941]
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[Full Text: https://doi.org/10.1038/jid.2012.6]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
McLean, W. H. I., Rugg, E. L., Lunny, D. P., Morley, S. M., Lane, E. B., Swensson, O., Dopping-Hepenstal, P. J. C., Griffiths, W. A. D., Eady, R. A. J., Higgins, C., Navsaria, H. A., Leigh, I. M., Strachan, T., Kunkeler, L., Munro, C. S.
|
|
<strong>Keratin 16 and keratin 17 mutations cause pachyonychia congenita.</strong>
|
|
Nature Genet. 9: 273-278, 1995.
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|
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[PubMed: 7539673]
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[Full Text: https://doi.org/10.1038/ng0395-273]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
McLean, W. H. I.
|
|
<strong>Personal Communication.</strong>
|
|
Philadelphia, Pa. 2/26/1997.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Paladini, R. D., Takahashi, K., Gant, T. M., Coulombe, P. A.
|
|
<strong>cDNA cloning and bacterial expression of the human type I keratin 16.</strong>
|
|
Biochem. Biophys. Res. Commun. 215: 517-523, 1995.
|
|
|
|
|
|
[PubMed: 7487986]
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|
|
[Full Text: https://doi.org/10.1006/bbrc.1995.2495]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
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: 1713141]
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|
|
[Full Text: https://doi.org/10.1159/000133109]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
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.
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|
|
[PubMed: 2451124]
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|
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[Full Text: https://doi.org/10.1128/mcb.8.2.722-736.1988]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Shamsher, M. K., Navsaria, H. A., Stevens, H. P., Ratnavel, R. C., Purkis, P. E., McLean, W. H., Cook. L. J., Griffiths, W. A. D., Geschmeissner, S., Spurr, N., Leigh, I. M.
|
|
<strong>Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families.</strong>
|
|
Hum. Molec. Genet. 4: 1875-1881, 1995.
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|
|
[PubMed: 8595410]
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[Full Text: https://doi.org/10.1093/hmg/4.10.1875]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Smith, F. J. D., Del Monaco, M., Steijlen, P. M.., Munro, C. S.., Morvay, M., Coleman, C. M., Rietveld, F. J. R., Uitto, J., McLean, W. H. I.
|
|
<strong>Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1.</strong>
|
|
Brit. J. Derm. 141: 1010-1016, 1999.
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|
|
[PubMed: 10606845]
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|
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[Full Text: https://doi.org/10.1046/j.1365-2133.1999.03198.x]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Smith, F. J. D., Fisher, M. P., Healy, E., Rees, J. L., Bonifas, J. M., Epstein, E. H., Jr., Tan, E. M. L., Uitto, J., McLean, W. H. I.
|
|
<strong>Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.</strong>
|
|
Exp. Derm. 9: 170-177, 2000.
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|
|
[PubMed: 10839714]
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|
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[Full Text: https://doi.org/10.1034/j.1600-0625.2000.009003170.x]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Smith, F. J. D., Liao, H., Cassidy, A. J., Stewart, A., Hamill, K. J., Wood, P., Joval, I., van Steensel, M. A. M., Bjorck, E., Callif-Daley, F., Pals, G., Collins, P., Leachman, S. A., Munro, C. S., McLean, W. H. I.
|
|
<strong>The genetic basis of pachyonychia congenita.</strong>
|
|
J. Invest. Derm. Symp. Proc. 10: 21-30, 2005.
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|
|
[PubMed: 16250206]
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[Full Text: https://doi.org/10.1111/j.1087-0024.2005.10204.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Smith, F. J. D., McKusick, V. A., Nielsen, K., Pfendner, E., Uitto, J., McLean, W. H. I.
|
|
<strong>Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1.</strong>
|
|
Prenatal Diag. 19: 941-946, 1999.
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|
|
[PubMed: 10521820]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
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Stevens, H. P., Kelsell, D. P., Spurr, N. K., Bishop, D. T., Purkis, P. E., Griffiths, W. A. D., Rustin, M. H. A., Leigh, I. M.
|
|
<strong>Keratin staining and linkage of non-epidermolytic focal palmoplantar keratoderma (PPK) to 17q. (Abstract)</strong>
|
|
Brit. J. Derm. 131: 425, 1994.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Terrinoni, A., Puddu, P., Didona, B., De Laurenzi, V., Candi, E., Smith, F. J. D., McLean, W. H. I., Melino, G.
|
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<strong>A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus.</strong>
|
|
J. Invest. Derm. 114: 1136-1140, 2000.
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[PubMed: 10844556]
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[Full Text: https://doi.org/10.1046/j.1523-1747.2000.00983.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I.
|
|
<strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong>
|
|
J. Invest. Derm. 117: 1391-1396, 2001.
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[PubMed: 11886499]
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[Full Text: https://doi.org/10.1046/j.0022-202x.2001.01565.x]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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Contributors:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 05/14/2024<br>Marla J. F. O'Neill - updated : 9/18/2014<br>Carol A. Bocchini - updated : 4/10/2014<br>Marla J. F. O'Neill - updated : 5/11/2010<br>Patricia A. Hartz - updated : 11/19/2009<br>Marla J. F. O'Neill - updated : 8/12/2009<br>Marla J. F. O'Neill - updated : 7/10/2009<br>Patricia A. Hartz - updated : 6/22/2007<br>Victor A. McKusick - updated : 2/22/2005<br>Gary A. Bellus - updated : 4/28/2003<br>Gary A. Bellus - updated : 3/13/2003<br>Gary A. Bellus - updated : 4/18/2002<br>Gary A. Bellus - updated : 4/12/2000<br>Victor A. McKusick - updated : 1/19/2000<br>Victor A. McKusick - updated : 3/28/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/6/1990
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</span>
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</div>
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</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 05/14/2024<br>alopez : 06/09/2023<br>carol : 02/22/2022<br>mgross : 11/11/2015<br>carol : 6/3/2015<br>carol : 9/18/2014<br>carol : 4/18/2014<br>carol : 4/11/2014<br>carol : 4/10/2014<br>wwang : 5/11/2010<br>terry : 5/11/2010<br>mgross : 12/2/2009<br>terry : 11/19/2009<br>wwang : 9/3/2009<br>wwang : 9/3/2009<br>terry : 8/12/2009<br>terry : 7/13/2009<br>carol : 7/10/2009<br>wwang : 7/2/2007<br>terry : 6/22/2007<br>carol : 4/18/2006<br>carol : 1/17/2006<br>carol : 1/17/2006<br>wwang : 3/9/2005<br>terry : 2/22/2005<br>alopez : 4/28/2003<br>alopez : 3/27/2003<br>alopez : 3/13/2003<br>alopez : 3/10/2003<br>alopez : 4/18/2002<br>alopez : 4/12/2000<br>alopez : 4/12/2000<br>carol : 1/28/2000<br>mcapotos : 1/27/2000<br>mcapotos : 1/24/2000<br>terry : 1/19/2000<br>terry : 5/29/1998<br>alopez : 7/29/1997<br>terry : 7/7/1997<br>mark : 4/14/1997<br>terry : 3/28/1997<br>terry : 3/18/1997<br>terry : 3/26/1996<br>mark : 1/5/1996<br>mark : 1/4/1996<br>mark : 6/26/1995<br>carol : 3/15/1995<br>mimadm : 4/29/1994<br>warfield : 4/12/1994<br>supermim : 3/16/1992<br>carol : 10/9/1991
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</span>
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