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Entry
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- #278720 - XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
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- OMIM
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<p>
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<span class="h4">#278720</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/278720"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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</span>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3253&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1397/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9521" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=278720[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=910" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span 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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<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/disease/DOID:0110844" 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="http://www.informatics.jax.org/disease/278720" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0110844" 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': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-cell;">Cell Lines</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:278720" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 25784009<br />
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<strong>ORPHA:</strong> 910<br />
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<strong>DO:</strong> 0110844<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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278720
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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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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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XPCC<br />
|
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XP, GROUP C<br />
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XERODERMA PIGMENTOSUM III; XP3
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</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>
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<span class="mim-font">
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<a href="/geneMap/3/81?start=-3&limit=10&highlight=81">
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3p25.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Xeroderma pigmentosum, group C
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/278720"> 278720 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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XPC
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613208"> 613208 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/278720" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/278720" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/278720" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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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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<span class="h5 mim-font">
|
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<strong> HEAD & NECK </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Eyes </em>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
|
- Photophobia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409668002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409668002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246622003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246622003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.14</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span><br />
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|
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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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<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Skin photosensitivity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90128006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90128006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349506</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000992</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000992</a>]</span><br /> -
|
|
Early onset skin cancer (basal cell, squamous cell and malignant melanoma) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749216&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749216</a>]</span><br /> -
|
|
Early freckle-like lesions in exposed areas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749217</a>]</span><br /> -
|
|
Skin atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400190005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400190005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L90.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004334" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004334</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004334" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004334</a>]</span><br /> -
|
|
Telangiectasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247479008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247479008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/112641009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">112641009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039446</a>, <a href="https://bioportal.bioontology.org/search?q=C5848131&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848131</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001009</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0034697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034697</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001009</a>]</span><br /> -
|
|
Actinic keratoses <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/856006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">856006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/201101007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">201101007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L57.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L57.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/702.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">702.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022602&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022602</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025127" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025127</a>]</span><br /> -
|
|
Hypopigmentation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18655006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18655006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23006000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23006000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89031001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89031001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1876214&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1876214</a>, <a href="https://bioportal.bioontology.org/search?q=C0162835&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162835</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001010</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001010</a>]</span><br />
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|
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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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<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Onset in early childhood<br />
|
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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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<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Caused by mutation in the XPC complex subunit, DNA damage recognition and repair factor gene (XPC, <a href="/entry/613208#0001">613208.0001</a>)<br />
|
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|
|
</span>
|
|
</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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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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<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 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because xeroderma pigmentosum complementation group C (XPC) is caused by mutation in the XPC gene (<a href="/entry/613208">613208</a>) on chromosome 3p25.</p>
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</span>
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<div>
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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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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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by <a href="#12" class="mim-tip-reference" title="Li, L., Bales, E. S., Peterson, C. A., Legerski, R. J. <strong>Characterization of molecular defects in xeroderma pigmentosum group C.</strong> Nature Genet. 5: 413-417, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298653</a>] [<a href="https://doi.org/10.1038/ng1293-413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298653">Li et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8298653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a general discussion of xeroderma pigmentosum, see XPA (<a href="/entry/278700">278700</a>).</p>
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<p><a href="#13" class="mim-tip-reference" title="Lynch, H. T., Fusaro, R. M., Johnson, J. A. <strong>Xeroderma pigmentosum: complementation group C and malignant melanoma.</strong> Arch. Derm. 120: 175-179, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6696469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6696469</a>] [<a href="https://doi.org/10.1001/archderm.120.2.175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6696469">Lynch et al. (1984)</a> suggested that complementation group C patients may be particularly prone to malignant melanoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6696469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Li, L., Bales, E. S., Peterson, C. A., Legerski, R. J. <strong>Characterization of molecular defects in xeroderma pigmentosum group C.</strong> Nature Genet. 5: 413-417, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298653</a>] [<a href="https://doi.org/10.1038/ng1293-413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298653">Li et al. (1993)</a> identified 2 patients with XPC confirmed by genetic analysis (<a href="/entry/613208#0003">613208.0003</a>). Cell lines from these patients were the least sensitive to UV-irradiation compared to 4 other cell lines, and exhibited a near-normal level of XPC mRNA. Clinically, the proband was diagnosed with XP at birth and was rigorously protected from sunlight from that time; as of 13 years of age, the patient had not exhibited any malignant neoplasms. However, an older brother with XP began to develop tumors by age 13. Like the vast majority of XPC patients, this patient did not exhibit neurologic complications. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8298653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Chavanne, F., Broughton, B. C., Pietra, D., Nardo, T., Browitt, A., Lehmann, A. R., Stefanini, M. <strong>Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.</strong> Cancer Res. 60: 1974-1982, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10766188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10766188</a>]" pmid="10766188">Chavanne et al. (2000)</a> reported 12 patients with XPC. None showed neurologic abnormalities. DNA repair activity ranged from 10 to 20% of normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10766188" 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="Gozukara, E. M., Khan, S. G., Metin, A., Emmert, S., Busch, D. B., Shahlavi, T., Coleman, D. M., Miller, M., Chinsomboon, N., Stefanini, M., Kraemer, K. H. <strong>A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.</strong> J. Invest. Derm. 117: 197-204, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511294</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2001.01424.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11511294">Gozukara et al. (2001)</a> reported a Turkish family with severe XPC confirmed by genetic analysis (R579X; <a href="/entry/613208#0007">613208.0007</a>). The 8-year-old boy had abnormal skin lesions by 1 year of age, and developed typical freckling on sun-exposed areas with atrophy, telangiectasia, hypopigmentation, and actinic keratoses. He had multiple skin cancers and died at age 10 years. There were no neurologic abnormalities. His 5-year-old sister developed abnormal skin lesions at age 6 months and squamous cell carcinoma on her face at age 2 years. A cousin was also reportedly affected. The DNA repair level was 12 to 16% of normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11511294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Khan, S. G., Metin, A., Gozukara, E., Inui, H., Shahlavi, T., Muniz-Medina, V., Baker, C. C., Ueda, T., Aiken, J. R., Schneider, T. D., Kraemer, K. H. <strong>Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.</strong> Hum. Molec. Genet. 13: 343-352, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14662655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14662655</a>] [<a href="https://doi.org/10.1093/hmg/ddh026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14662655">Khan et al. (2004)</a> reported 2 consanguineous Turkish families with XPC. In the first family, a 20-year-old male and his 16-year-old sister were both severely affected. They developed skin lesions at 3 years of age. Both had cutaneous atrophy, telangiectasia, actinic keratoses, and multiple skin cancers including squamous cell carcinomas, basal cell carcinomas, and melanomas. In the second family, 3 sisters, aged 20, 18, and 11 years, were more mildly affected. Skin lesions began at age 3 to 5 years. They had freckling but no skin atrophy, telangiectasia, or actinic keratoses. The oldest sister had a squamous cell carcinoma excised from her face at age 12 years. The other sisters did not have skin cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14662655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#9" class="mim-tip-reference" title="Hananian, J., Cleaver, J. E. <strong>Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus.</strong> Clin. Genet. 17: 39-45, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7389185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7389185</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00112.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7389185">Hananian and Cleaver (1980)</a> reported an unusual patient with XPC diagnosed by cell complementation studies who had neurologic symptoms and features of systemic lupus erythematosus (SLE; see <a href="/entry/152700">152700</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7389185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Khan, S. G., Levy, H. L., Legerski, R., Quackenbush, E., Reardon, J. T., Emmert, S., Sancar, A., Li, L., Schneider, T. D., Cleaver, J. E., Kraemer, K. H. <strong>Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia.</strong> J. Invest. Derm. 111: 791-796, 1998. Note: Erratum: J. Invest. Derm. 112: 402 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9804340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9804340</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1998.00391.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9804340">Khan et al. (1998)</a> reported a 4-year-old boy of Korean ancestry with XPC. The phenotype was characterized by sun sensitivity and multiple cutaneous neoplasms, as well as unusual neurologic features, including hyperactivity and autistic features. Other typical XP neurologic abnormalities were not preset. In addition, laboratory studies showed persistently low levels of glycine. Hyperactivity diminished with oral glycine supplements. Genetic analysis identified a mutation in the XPC gene (<a href="/entry/613208#0005">613208.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9804340" 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>XP patients are susceptible to UV-induced freckling and malignant skin changes, whereas Cockayne syndrome (see, e.g., <a href="/entry/216400">216400</a>) patients do not have increased susceptibility to these lesions. <a href="#14" class="mim-tip-reference" title="Seguin, L. R., Tarone, R. E., Liao, K., Robbins, J. H. <strong>Ultraviolet light-induced chromosomal aberrations in cultured cells from Cockayne syndrome and complementation group C xeroderma pigmentosum patients: lack of correlation with cancer susceptibility.</strong> Am. J. Hum. Genet. 42: 468-475, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3348214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3348214</a>]" pmid="3348214">Seguin et al. (1988)</a> studied the frequency of ultraviolet light-induced chromosomal breaks in lymphoblastoid cell lines from patients with Cockayne syndrome and from patients with xeroderma pigmentosum. Cells established from patients with either disorder had the same abnormal increase in the number of induced aberrations. However, the authors concluded that the frequency of UV-induced breakage in the chromosomes of xeroderma pigmentosum group C cells does not explain the susceptibility of these patients to sunlight-induced skin cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3348214" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#12" class="mim-tip-reference" title="Li, L., Bales, E. S., Peterson, C. A., Legerski, R. J. <strong>Characterization of molecular defects in xeroderma pigmentosum group C.</strong> Nature Genet. 5: 413-417, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298653</a>] [<a href="https://doi.org/10.1038/ng1293-413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298653">Li et al. (1993)</a> identified changes in the XPC gene (see, e.g., <a href="/entry/613208#0001">613208.0001</a>-<a href="/entry/613208#0004">613208.0004</a>) in 5 XPC cell lines. In 4 of them, Northern blot analysis of RNAs demonstrated subnormal levels of the XPC transcript, whereas the fifth exhibited a near normal level. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8298653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 2 unrelated but consanguineous Turkish families with XPC, <a href="#11" class="mim-tip-reference" title="Khan, S. G., Metin, A., Gozukara, E., Inui, H., Shahlavi, T., Muniz-Medina, V., Baker, C. C., Ueda, T., Aiken, J. R., Schneider, T. D., Kraemer, K. H. <strong>Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.</strong> Hum. Molec. Genet. 13: 343-352, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14662655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14662655</a>] [<a href="https://doi.org/10.1093/hmg/ddh026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14662655">Khan et al. (2004)</a> identified 2 different splice site mutations in the XPC gene (<a href="/entry/613208#0008">613208.0008</a> and <a href="/entry/613208#0009">613208.0009</a>), respectively. RT-PCR of cells from the severely affected patients showed a short mRNA band and no detectable wildtype band. In contrast, cells from the more mildly affected patients had an mRNA band of shorter size and 1 of normal size. These findings correlated with disease severity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14662655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Cleaver, J. E., Thompson, L. H., Richardson, A. S., States, J. C. <strong>A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.</strong> Hum. Mutat. 14: 9-22, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10447254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10447254</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10447254">Cleaver et al. (1999)</a> reviewed mutations in the XPC gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10447254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Ben Rekaya, M., Messaoud, O., Talmoudi, F., Nouira, S., Ouragini, H., Amouri, A., Boussen, H., Boubaker, S., Mokni, M., Mokthar, I., Abdelhak, S., Zghal, M. <strong>High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.</strong> J. Hum. Genet. 54: 426-429, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19478817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19478817</a>] [<a href="https://doi.org/10.1038/jhg.2009.50" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19478817">Ben Rekaya et al. (2009)</a> reported a high frequency of XPC in Tunisia. They reported 14 affected Tunisian families, 12 of which were consanguineous. Age at onset ranged from 1 to 96 months and the average age of the patients was 11 years. Clinical features included photophobia and skin tumors, including basal cell carcinoma, squamous cell carcinoma, and malignant melanoma. None of the patients had neurologic abnormalities. Genetic analysis showed that all patients carried the same homozygous 2-bp deletion (1744delTG; <a href="/entry/613208#0010">613208.0010</a>) in the XPC gene. Haplotype analysis indicated a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19478817" 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 ninth complementation group (XPI) described by <a href="#6" class="mim-tip-reference" title="Fischer, E., Keijzer, W., Thielmann, H. W., Popanda, O., Bohnert, E., Edler, L., Jung, E. G., Bootsma, D. <strong>A ninth complementation group in xeroderma pigmentosum, XP I.</strong> Mutat. Res. 145: 217-225, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3982437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3982437</a>] [<a href="https://doi.org/10.1016/0167-8817(85)90030-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3982437">Fischer et al. (1985)</a> was withdrawn by <a href="#2" class="mim-tip-reference" title="Bootsma, D., Keijzer, W., Jung, E. G., Bohnert, E. <strong>Xeroderma pigmentosum complementation group XP-I withdrawn.</strong> Mutat. Res. 218: 149-151, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2770764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2770764</a>] [<a href="https://doi.org/10.1016/0921-8777(89)90021-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2770764">Bootsma et al. (1989)</a>. The initial classification had been done on the basis of studies of 1 cell line only. Study with a second biopsy from both of the 2 sibs showed that the cells behaved exactly like those of the XPC complementation group. <a href="#2" class="mim-tip-reference" title="Bootsma, D., Keijzer, W., Jung, E. G., Bohnert, E. <strong>Xeroderma pigmentosum complementation group XP-I withdrawn.</strong> Mutat. Res. 218: 149-151, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2770764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2770764</a>] [<a href="https://doi.org/10.1016/0921-8777(89)90021-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2770764">Bootsma et al. (1989)</a> suspected that the original cell strain was contaminated with another XP cell strain, at least at the stage when complementation experiments with XPC fibroblasts were performed. If these contaminating cells belong to an XP complementation group other than C, one might expect to find complementation in all instances, even with itself. Unfortunately, the latter control experiment was not performed in the original study. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2770764+3982437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Cleaver1986" class="mim-tip-reference" title="Cleaver, J. E. <strong>DNA repair in human xeroderma pigmentosum group C cells involves a different distribution of damaged sites in confluent and growing cells.</strong> Nucleic Acids Res. 14: 8155-8165, 1986.">Cleaver (1986)</a>; <a href="#Halley1979" class="mim-tip-reference" title="Halley, D. J. J., Keijzer, W., Jaspers, N. G. J., Niermeijer, M. F., Kleijer, W. J., Boue, J., Boue, A., Bootsma, D. <strong>Prenatal diagnosis of xeroderma pigmentosum (group C) using assays of unscheduled DNA synthesis and postreplication repair.</strong> Clin. Genet. 16: 137-146, 1979.">Halley et al. (1979)</a>
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[<a href="https://doi.org/10.1038/jhg.2009.50" target="_blank">Full Text</a>]
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Bootsma, D., Keijzer, W., Jung, E. G., Bohnert, E.
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<strong>Xeroderma pigmentosum complementation group XP-I withdrawn.</strong>
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Mutat. Res. 218: 149-151, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2770764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2770764</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2770764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0921-8777(89)90021-9" target="_blank">Full Text</a>]
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Cleaver, J. E.
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<strong>DNA repair in human xeroderma pigmentosum group C cells involves a different distribution of damaged sites in confluent and growing cells.</strong>
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Nucleic Acids Res. 14: 8155-8165, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3774554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3774554</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3774554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/14.20.8155" target="_blank">Full Text</a>]
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Cleaver, J. E., Thompson, L. H., Richardson, A. S., States, J. C.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10447254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10447254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10447254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6" target="_blank">Full Text</a>]
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Fischer, E., Keijzer, W., Thielmann, H. W., Popanda, O., Bohnert, E., Edler, L., Jung, E. G., Bootsma, D.
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<strong>A ninth complementation group in xeroderma pigmentosum, XP I.</strong>
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Mutat. Res. 145: 217-225, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3982437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3982437</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3982437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0167-8817(85)90030-6" target="_blank">Full Text</a>]
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Gozukara, E. M., Khan, S. G., Metin, A., Emmert, S., Busch, D. B., Shahlavi, T., Coleman, D. M., Miller, M., Chinsomboon, N., Stefanini, M., Kraemer, K. H.
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[<a href="https://doi.org/10.1046/j.1523-1747.2001.01424.x" target="_blank">Full Text</a>]
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Halley, D. J. J., Keijzer, W., Jaspers, N. G. J., Niermeijer, M. F., Kleijer, W. J., Boue, J., Boue, A., Bootsma, D.
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<strong>Prenatal diagnosis of xeroderma pigmentosum (group C) using assays of unscheduled DNA synthesis and postreplication repair.</strong>
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Clin. Genet. 16: 137-146, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/487635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">487635</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=487635" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1979.tb00982.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00112.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1046/j.1523-1747.1998.00391.x" target="_blank">Full Text</a>]
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Khan, S. G., Metin, A., Gozukara, E., Inui, H., Shahlavi, T., Muniz-Medina, V., Baker, C. C., Ueda, T., Aiken, J. R., Schneider, T. D., Kraemer, K. H.
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[<a href="https://doi.org/10.1093/hmg/ddh026" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng1293-413" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archderm.120.2.175" target="_blank">Full Text</a>]
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<a id="Seguin1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Seguin, L. R., Tarone, R. E., Liao, K., Robbins, J. H.
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<strong>Ultraviolet light-induced chromosomal aberrations in cultured cells from Cockayne syndrome and complementation group C xeroderma pigmentosum patients: lack of correlation with cancer susceptibility.</strong>
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Am. J. Hum. Genet. 42: 468-475, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3348214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3348214</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3348214" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - reorganized : 1/12/2010
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Cassandra L. Kniffin - updated : 1/8/2010<br>Ada Hamosh - updated : 10/9/2007<br>George E. Tiller - updated : 2/17/2006<br>Patricia A. Hartz - updated : 10/13/2005<br>Gary A. Bellus - updated : 4/25/2003<br>Patricia A. Hartz - updated : 3/4/2003<br>George E. Tiller - updated : 12/19/2001<br>Stylianos E. Antonarakis - updated : 8/3/2001<br>Gary A. Bellus - updated : 4/2/2001<br>Victor A. McKusick - updated : 3/17/2000<br>Victor A. McKusick - updated : 7/21/1999<br>Victor A. McKusick - updated : 4/16/1999<br>Victor A. McKusick - updated : 2/3/1999<br>Stylianos E. Antonarakis - updated : 12/23/1998
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 01/20/2011
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carol : 12/3/2010<br>carol : 3/12/2010<br>carol : 1/12/2010<br>ckniffin : 1/8/2010<br>ckniffin : 1/8/2010<br>alopez : 10/17/2007<br>terry : 10/9/2007<br>wwang : 3/10/2006<br>terry : 2/17/2006<br>mgross : 10/13/2005<br>joanna : 3/19/2004<br>alopez : 4/25/2003<br>mgross : 3/4/2003<br>cwells : 1/3/2002<br>cwells : 12/19/2001<br>mgross : 8/3/2001<br>mgross : 8/3/2001<br>mgross : 8/3/2001<br>cwells : 4/10/2001<br>cwells : 4/5/2001<br>cwells : 4/2/2001<br>carol : 4/13/2000<br>mcapotos : 4/13/2000<br>mcapotos : 4/12/2000<br>mcapotos : 4/12/2000<br>terry : 3/17/2000<br>terry : 7/21/1999<br>carol : 5/24/1999<br>carol : 4/19/1999<br>terry : 4/16/1999<br>carol : 2/12/1999<br>terry : 2/3/1999<br>terry : 2/3/1999<br>carol : 12/23/1998<br>mark : 2/7/1996<br>terry : 2/1/1996<br>mark : 9/24/1995<br>terry : 12/14/1994<br>jason : 7/28/1994<br>warfield : 4/20/1994<br>mimadm : 3/12/1994<br>carol : 12/17/1993
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<span class="mim-font">
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<strong>#</strong> 278720
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<div>
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<h3>
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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
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<em>Alternative titles; symbols</em>
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XPCC<br />
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XP, GROUP C<br />
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XERODERMA PIGMENTOSUM III; XP3
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<strong>SNOMEDCT:</strong> 25784009;
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<strong>ORPHA:</strong> 910;
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<strong>DO:</strong> 0110844;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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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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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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3p25.1
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<span class="mim-font">
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Xeroderma pigmentosum, group C
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<span class="mim-font">
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278720
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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XPC
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<span class="mim-font">
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613208
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because xeroderma pigmentosum complementation group C (XPC) is caused by mutation in the XPC gene (613208) on chromosome 3p25.</p>
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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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<span class="mim-text-font">
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<p>Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by Li et al., 1993). </p><p>For a general discussion of xeroderma pigmentosum, see XPA (278700).</p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p>Lynch et al. (1984) suggested that complementation group C patients may be particularly prone to malignant melanoma. </p><p>Li et al. (1993) identified 2 patients with XPC confirmed by genetic analysis (613208.0003). Cell lines from these patients were the least sensitive to UV-irradiation compared to 4 other cell lines, and exhibited a near-normal level of XPC mRNA. Clinically, the proband was diagnosed with XP at birth and was rigorously protected from sunlight from that time; as of 13 years of age, the patient had not exhibited any malignant neoplasms. However, an older brother with XP began to develop tumors by age 13. Like the vast majority of XPC patients, this patient did not exhibit neurologic complications. </p><p>Chavanne et al. (2000) reported 12 patients with XPC. None showed neurologic abnormalities. DNA repair activity ranged from 10 to 20% of normal. </p><p>Gozukara et al. (2001) reported a Turkish family with severe XPC confirmed by genetic analysis (R579X; 613208.0007). The 8-year-old boy had abnormal skin lesions by 1 year of age, and developed typical freckling on sun-exposed areas with atrophy, telangiectasia, hypopigmentation, and actinic keratoses. He had multiple skin cancers and died at age 10 years. There were no neurologic abnormalities. His 5-year-old sister developed abnormal skin lesions at age 6 months and squamous cell carcinoma on her face at age 2 years. A cousin was also reportedly affected. The DNA repair level was 12 to 16% of normal. </p><p>Khan et al. (2004) reported 2 consanguineous Turkish families with XPC. In the first family, a 20-year-old male and his 16-year-old sister were both severely affected. They developed skin lesions at 3 years of age. Both had cutaneous atrophy, telangiectasia, actinic keratoses, and multiple skin cancers including squamous cell carcinomas, basal cell carcinomas, and melanomas. In the second family, 3 sisters, aged 20, 18, and 11 years, were more mildly affected. Skin lesions began at age 3 to 5 years. They had freckling but no skin atrophy, telangiectasia, or actinic keratoses. The oldest sister had a squamous cell carcinoma excised from her face at age 12 years. The other sisters did not have skin cancer. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Hananian and Cleaver (1980) reported an unusual patient with XPC diagnosed by cell complementation studies who had neurologic symptoms and features of systemic lupus erythematosus (SLE; see 152700). </p><p>Khan et al. (1998) reported a 4-year-old boy of Korean ancestry with XPC. The phenotype was characterized by sun sensitivity and multiple cutaneous neoplasms, as well as unusual neurologic features, including hyperactivity and autistic features. Other typical XP neurologic abnormalities were not preset. In addition, laboratory studies showed persistently low levels of glycine. Hyperactivity diminished with oral glycine supplements. Genetic analysis identified a mutation in the XPC gene (613208.0005). </p>
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</span>
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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>Pathogenesis</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>XP patients are susceptible to UV-induced freckling and malignant skin changes, whereas Cockayne syndrome (see, e.g., 216400) patients do not have increased susceptibility to these lesions. Seguin et al. (1988) studied the frequency of ultraviolet light-induced chromosomal breaks in lymphoblastoid cell lines from patients with Cockayne syndrome and from patients with xeroderma pigmentosum. Cells established from patients with either disorder had the same abnormal increase in the number of induced aberrations. However, the authors concluded that the frequency of UV-induced breakage in the chromosomes of xeroderma pigmentosum group C cells does not explain the susceptibility of these patients to sunlight-induced skin cancer. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Li et al. (1993) identified changes in the XPC gene (see, e.g., 613208.0001-613208.0004) in 5 XPC cell lines. In 4 of them, Northern blot analysis of RNAs demonstrated subnormal levels of the XPC transcript, whereas the fifth exhibited a near normal level. </p><p>In affected members of 2 unrelated but consanguineous Turkish families with XPC, Khan et al. (2004) identified 2 different splice site mutations in the XPC gene (613208.0008 and 613208.0009), respectively. RT-PCR of cells from the severely affected patients showed a short mRNA band and no detectable wildtype band. In contrast, cells from the more mildly affected patients had an mRNA band of shorter size and 1 of normal size. These findings correlated with disease severity. </p><p>Cleaver et al. (1999) reviewed mutations in the XPC gene. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Ben Rekaya et al. (2009) reported a high frequency of XPC in Tunisia. They reported 14 affected Tunisian families, 12 of which were consanguineous. Age at onset ranged from 1 to 96 months and the average age of the patients was 11 years. Clinical features included photophobia and skin tumors, including basal cell carcinoma, squamous cell carcinoma, and malignant melanoma. None of the patients had neurologic abnormalities. Genetic analysis showed that all patients carried the same homozygous 2-bp deletion (1744delTG; 613208.0010) in the XPC gene. Haplotype analysis indicated a founder effect. </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>History</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>A ninth complementation group (XPI) described by Fischer et al. (1985) was withdrawn by Bootsma et al. (1989). The initial classification had been done on the basis of studies of 1 cell line only. Study with a second biopsy from both of the 2 sibs showed that the cells behaved exactly like those of the XPC complementation group. Bootsma et al. (1989) suspected that the original cell strain was contaminated with another XP cell strain, at least at the stage when complementation experiments with XPC fibroblasts were performed. If these contaminating cells belong to an XP complementation group other than C, one might expect to find complementation in all instances, even with itself. Unfortunately, the latter control experiment was not performed in the original study. </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>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Cleaver (1986); Halley et al. (1979)
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</span>
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<div>
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<br />
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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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Ben Rekaya, M., Messaoud, O., Talmoudi, F., Nouira, S., Ouragini, H., Amouri, A., Boussen, H., Boubaker, S., Mokni, M., Mokthar, I., Abdelhak, S., Zghal, M.
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<strong>High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.</strong>
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J. Hum. Genet. 54: 426-429, 2009.
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[PubMed: 19478817]
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[Full Text: https://doi.org/10.1038/jhg.2009.50]
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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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Bootsma, D., Keijzer, W., Jung, E. G., Bohnert, E.
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<strong>Xeroderma pigmentosum complementation group XP-I withdrawn.</strong>
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Mutat. Res. 218: 149-151, 1989.
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