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<title>
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Entry
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- #600630 - UV-SENSITIVE SYNDROME 1; UVSS1
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- OMIM
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<span class="h4">#600630</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/600630"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS600630"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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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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<div><a href="https://clinicaltrials.gov/search?cond=(UV-SENSITIVE SYNDROME) OR (ERCC6)" class="mim-tip-hint" title="Clinical Trials" 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=18016&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.diseaseinfosearch.org/x/9441" 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=600630[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=178338" 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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<div style="display: table-cell;">Animal Models</div>
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</span>
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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:0060240" 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/600630" 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:0060240" 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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<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>ORPHA:</strong> 178338<br />
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<strong>DO:</strong> 0060240<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="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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600630
|
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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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UV-SENSITIVE SYNDROME 1; UVSS1
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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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<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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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
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Gene/Locus
|
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</th>
|
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<th>
|
|
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>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/10/190?start=-3&limit=10&highlight=190">
|
|
10q11.23
|
|
</a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
UV-sensitive syndrome 1
|
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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">
|
|
<a href="/entry/600630"> 600630 </a>
|
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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 recessive">AR</abbr>
|
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|
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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>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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ERCC6
|
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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/609413"> 609413 </a>
|
|
</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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|
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/600630" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<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')">
|
|
<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
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</div>
|
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|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS600630" class="btn btn-info" role="button"> Phenotypic Series </a>
|
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|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
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</div>
|
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|
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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/600630" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600630" 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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|
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<div>
|
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<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
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|
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|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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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|
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</span>
|
|
</div>
|
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</div>
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|
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</div>
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|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Freckling <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/699225003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">699225003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/403536009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">403536009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L81.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L81.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016689&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016689</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001480</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001480</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 /> -
|
|
Dry skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52475004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52475004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E50.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E50.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0043345&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0043345</a>, <a href="https://bioportal.bioontology.org/search?q=C0720057&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0720057</a>, <a href="https://bioportal.bioontology.org/search?q=C0151908&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151908</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000958</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000958</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Cells show defective transcription-coupled nucleotide excision repair (TC-NER) after UV irradiation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551174</a>]</span><br /> -
|
|
Increased cellular sensitivity to UV light <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857707</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003224" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003224</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003224" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003224</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span><br /> -
|
|
No predisposition to skin tumor development<br /> -
|
|
Two unrelated Japanese patients have been reported (last curated May 2012)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the ERCC excision repair 6, chromatin remodeling factor gene (ERCC6, <a href="/entry/609413#0009">609413.0009</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
UV-sensitive syndrome
|
|
- <a href="/phenotypicSeries/PS600630">PS600630</a>
|
|
- 3 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/28?start=-3&limit=10&highlight=28"> 4p16.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614640"> UV-sensitive syndrome 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<p>A number sign (#) is used with this entry because of evidence that UV-sensitive syndrome-1 (UVSS1) is caused by homozygous mutation in the ERCC6 gene (<a href="/entry/609413">609413</a>) on chromosome 10q11.</p><p>Cockayne syndrome type B (CSB; <a href="/entry/133540">133540</a>) is an allelic disorder with a more severe phenotype, including neurologic and skeletal abnormalities.</p>
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<p>UV-sensitive syndrome-1 (UVSS1) is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by <a href="#3" class="mim-tip-reference" title="Horibata, K., Iwamoto, Y., Kuraoka, I., Jaspers, N. G. J., Kurimasa, A., Oshimura, M., Ichihashi, M., Tanaka, K. <strong>Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.</strong> Proc. Nat. Acad. Sci. 101: 15410-15415, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15486090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15486090</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15486090[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0404587101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15486090">Horibata et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15486090" 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>Genetic Heterogeneity of UV-Sensitive Syndrome</em></strong></p><p>
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See also UVSS2 (<a href="/entry/614621">614621</a>), caused by mutation in the ERCC8 gene (<a href="/entry/609412">609412</a>) on chromosome 5q12, and UVSS3 (<a href="/entry/614640">614640</a>), caused by mutation in the UVSSA gene (<a href="/entry/614632">614632</a>) on chromosome 4p16.</p>
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<p><a href="#2" class="mim-tip-reference" title="Fujiwara, Y., Ichihashi, M., Kano, Y., Goto, K., Shimizu, K. <strong>A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation.</strong> J. Invest. Derm. 77: 256-263, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7264357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7264357</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12482447" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7264357">Fujiwara et al. (1981)</a> reported a Japanese boy, born of consanguineous parents, with UV sensitivity syndrome. The patient exhibited a number of freckles, hypopigmented spots, telangiectasia, and slightly dried skin in sun-exposed areas, but no growth retardation or neurologic abnormalities at age 8 years. Patient fibroblasts were 5-fold more sensitive to UV irradiation compared to control cells, although the response of obligatory heterozygotes was normal. Although unscheduled DNA synthesis (UDS) and other nucleotide-excision repair processes were normal, patient cells showed a defective recovery of DNA synthesis after UV irradiation. <a href="#2" class="mim-tip-reference" title="Fujiwara, Y., Ichihashi, M., Kano, Y., Goto, K., Shimizu, K. <strong>A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation.</strong> J. Invest. Derm. 77: 256-263, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7264357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7264357</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12482447" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7264357">Fujiwara et al. (1981)</a> concluded that the patient had a new photodermatosis with a specific defect in the recovery of post-UV DNA synthesis. <a href="#4" class="mim-tip-reference" title="Itoh, T., Yamaizumi, M., Ichihashi, M., Hiro-oka, M., Matsui, T., Matsuno, M., Ono, T. <strong>Clinical characteristics of three patients with UV-S syndrome, a photosensitive disorder with defective DNA repair.</strong> Brit. J. Derm. 134: 1147-1150, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8763445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8763445</a>]" pmid="8763445">Itoh et al. (1996)</a> reported follow-up of the patient (UV81KO) reported by <a href="#2" class="mim-tip-reference" title="Fujiwara, Y., Ichihashi, M., Kano, Y., Goto, K., Shimizu, K. <strong>A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation.</strong> J. Invest. Derm. 77: 256-263, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7264357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7264357</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12482447" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7264357">Fujiwara et al. (1981)</a>. The patient was noted as being photosensitive at age 3 months. He had no skin tumors, and growth and development were normal. Laboratory studies on patient fibroblasts showed a specific failure of RRS after UV irradiation, although UDS was normal. The biochemical findings were reminiscent of Cockayne syndrome, but the patient had no other abnormalities consistent with that disorder. <a href="#3" class="mim-tip-reference" title="Horibata, K., Iwamoto, Y., Kuraoka, I., Jaspers, N. G. J., Kurimasa, A., Oshimura, M., Ichihashi, M., Tanaka, K. <strong>Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.</strong> Proc. Nat. Acad. Sci. 101: 15410-15415, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15486090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15486090</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15486090[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0404587101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15486090">Horibata et al. (2004)</a> reported follow-up of the patient reported by <a href="#2" class="mim-tip-reference" title="Fujiwara, Y., Ichihashi, M., Kano, Y., Goto, K., Shimizu, K. <strong>A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation.</strong> J. Invest. Derm. 77: 256-263, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7264357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7264357</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12482447" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7264357">Fujiwara et al. (1981)</a>, who was 33 years of age at the time of the report. He had been healthy except for abnormal photosensitivity. He was 183 cm tall and weighed 64 kg. He had a slightly dark basal skin color and numerous small spots of pigmentation on his face, the extensor surface of his forearms, and the back of his hands. He had had no skin cancers and no neurologic abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8763445+15486090+7264357" 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="Miyauchi-Hashimoto, H., Akaeda, T., Maihara, T., Ikenaga, M., Horio, T. <strong>Cockayne syndrome without typical clinical manifestations including neurologic abnormalities.</strong> J. Am. Acad. Derm. 39: 565-570, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9777763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9777763</a>] [<a href="https://doi.org/10.1016/s0190-9622(98)70005-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9777763">Miyauchi-Hashimoto et al. (1998)</a> reported a Japanese boy with atypical Cockayne syndrome whose only clinical manifestations were photosensitivity and pigmented freckles on sun-exposed areas. He showed photosensitivity at age 4 months and had severe recurrent sunburns. His skin showed pigmented freckling and scaling, particularly on the face. Cultured skin fibroblasts showed extreme UV sensitivity and a defect of recovery of RNA synthesis after UV radiation, but an almost normal amount of UDS. The clinical features and cellular characteristics of the patient were consistent with UVSS. However, the patient was assigned to Cockayne syndrome type B by complementation analysis. The report suggested that Cockayne syndrome has a wider spectrum than previously considered. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9777763" 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="#3" class="mim-tip-reference" title="Horibata, K., Iwamoto, Y., Kuraoka, I., Jaspers, N. G. J., Kurimasa, A., Oshimura, M., Ichihashi, M., Tanaka, K. <strong>Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.</strong> Proc. Nat. Acad. Sci. 101: 15410-15415, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15486090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15486090</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15486090[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0404587101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15486090">Horibata et al. (2004)</a> demonstrated that UVSS1 is an autosomal recessive disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15486090" 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>To identify the gene responsible for UV-sensitive syndrome, <a href="#3" class="mim-tip-reference" title="Horibata, K., Iwamoto, Y., Kuraoka, I., Jaspers, N. G. J., Kurimasa, A., Oshimura, M., Ichihashi, M., Tanaka, K. <strong>Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.</strong> Proc. Nat. Acad. Sci. 101: 15410-15415, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15486090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15486090</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15486090[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0404587101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15486090">Horibata et al. (2004)</a> performed a microcell-mediated chromosome transfer based on the functional complementation of UV hypersensitivity. They found that a cell line from the patient described by <a href="#2" class="mim-tip-reference" title="Fujiwara, Y., Ichihashi, M., Kano, Y., Goto, K., Shimizu, K. <strong>A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation.</strong> J. Invest. Derm. 77: 256-263, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7264357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7264357</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12482447" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7264357">Fujiwara et al. (1981)</a> acquired UV resistance when human chromosome 10 was transferred. Because the gene responsible for Cockayne syndrome group B (ERCC6; <a href="/entry/609413">609413</a>), which involves neurologic abnormalities and photosensitivity as well as a defect in transcription-coupled DNA repair of UV damage, is located on chromosome 10, <a href="#3" class="mim-tip-reference" title="Horibata, K., Iwamoto, Y., Kuraoka, I., Jaspers, N. G. J., Kurimasa, A., Oshimura, M., Ichihashi, M., Tanaka, K. <strong>Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.</strong> Proc. Nat. Acad. Sci. 101: 15410-15415, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15486090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15486090</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15486090[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0404587101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15486090">Horibata et al. (2004)</a> sequenced the ERCC6 gene and identified a homozygous null mutation (R77X; <a href="/entry/609413#0009">609413.0009</a>). This finding was surprising because a null mutation of the ERCC6 gene would be expected to result in the features of Cockayne syndrome, such as severe developmental and neurologic abnormalities. On the other hand, <a href="#3" class="mim-tip-reference" title="Horibata, K., Iwamoto, Y., Kuraoka, I., Jaspers, N. G. J., Kurimasa, A., Oshimura, M., Ichihashi, M., Tanaka, K. <strong>Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.</strong> Proc. Nat. Acad. Sci. 101: 15410-15415, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15486090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15486090</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15486090[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0404587101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15486090">Horibata et al. (2004)</a> found no mutation in the ERCC6 cDNA and normal amounts of ERCC6 protein in another cell line from an unrelated patient with UV-sensitive syndrome, indicating genetic heterogeneity of this condition. Hypotheses explaining the discrepancy between null mutation of the ERCC6 gene and absence of Cockayne syndrome features were presented. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7264357+15486090" 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 Japanese patient with UVSS assigned to Cockayne syndrome type B based on complementation studies (<a href="#5" class="mim-tip-reference" title="Miyauchi-Hashimoto, H., Akaeda, T., Maihara, T., Ikenaga, M., Horio, T. <strong>Cockayne syndrome without typical clinical manifestations including neurologic abnormalities.</strong> J. Am. Acad. Derm. 39: 565-570, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9777763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9777763</a>] [<a href="https://doi.org/10.1016/s0190-9622(98)70005-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9777763">Miyauchi-Hashimoto et al., 1998</a>), <a href="#6" class="mim-tip-reference" title="Nakazawa, Y., Sasaki, K., Mitsutake, N., Matsuse, M., Shimada, M., Nardo, T., Takahashi, Y., Ohyama, K., Ito, K., Mishima, H., Nomura, M., Kinoshita, A., and 12 others. <strong>Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.</strong> Nature Genet. 44: 586-592, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22466610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22466610</a>] [<a href="https://doi.org/10.1038/ng.2229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22466610">Nakazawa et al. (2012)</a> identified a homozygous R77X mutation in the ERCC6 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22466610+9777763" 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="#Cleaver1995" class="mim-tip-reference" title="Cleaver, J. E., Hultner, M. L. <strong>Transcription-related human disorders. (Editorial)</strong> Am. J. Hum. Genet. 56: 1257-1261, 1995.">Cleaver and Hultner (1995)</a>
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Cleaver, J. E., Hultner, M. L.
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<strong>Transcription-related human disorders. (Editorial)</strong>
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Am. J. Hum. Genet. 56: 1257-1261, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7762548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7762548</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7762548" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fujiwara, Y., Ichihashi, M., Kano, Y., Goto, K., Shimizu, K.
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<strong>A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation.</strong>
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J. Invest. Derm. 77: 256-263, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7264357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7264357</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7264357" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/1523-1747.ep12482447" target="_blank">Full Text</a>]
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Horibata, K., Iwamoto, Y., Kuraoka, I., Jaspers, N. G. J., Kurimasa, A., Oshimura, M., Ichihashi, M., Tanaka, K.
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<strong>Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.</strong>
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Proc. Nat. Acad. Sci. 101: 15410-15415, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15486090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15486090</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15486090[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15486090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0404587101" target="_blank">Full Text</a>]
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Itoh, T., Yamaizumi, M., Ichihashi, M., Hiro-oka, M., Matsui, T., Matsuno, M., Ono, T.
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<strong>Clinical characteristics of three patients with UV-S syndrome, a photosensitive disorder with defective DNA repair.</strong>
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Brit. J. Derm. 134: 1147-1150, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8763445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8763445</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8763445" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Miyauchi-Hashimoto1998" class="mim-anchor"></a>
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Miyauchi-Hashimoto, H., Akaeda, T., Maihara, T., Ikenaga, M., Horio, T.
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<strong>Cockayne syndrome without typical clinical manifestations including neurologic abnormalities.</strong>
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J. Am. Acad. Derm. 39: 565-570, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9777763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9777763</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9777763" 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/s0190-9622(98)70005-2" target="_blank">Full Text</a>]
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Nakazawa, Y., Sasaki, K., Mitsutake, N., Matsuse, M., Shimada, M., Nardo, T., Takahashi, Y., Ohyama, K., Ito, K., Mishima, H., Nomura, M., Kinoshita, A., and 12 others.
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<strong>Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.</strong>
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Nature Genet. 44: 586-592, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22466610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22466610</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22466610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.2229" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 5/15/2012
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Victor A. McKusick - updated : 11/29/2004
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Victor A. McKusick : 6/29/1995
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carol : 02/06/2024
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carol : 11/15/2017<br>carol : 05/16/2012<br>ckniffin : 5/15/2012<br>carol : 3/21/2012<br>ckniffin : 6/15/2005<br>tkritzer : 12/8/2004<br>terry : 11/29/2004<br>mgross : 3/17/2004<br>carol : 2/26/2002<br>terry : 3/5/1996<br>mimadm : 11/3/1995<br>terry : 7/28/1995<br>mark : 6/29/1995
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UV-SENSITIVE SYNDROME 1; UVSS1
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<strong>ORPHA:</strong> 178338;
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<strong>DO:</strong> 0060240;
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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10q11.23
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<td>
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<span class="mim-font">
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UV-sensitive syndrome 1
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</td>
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<td>
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<span class="mim-font">
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600630
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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<td>
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<span class="mim-font">
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ERCC6
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</td>
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<span class="mim-font">
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609413
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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 of evidence that UV-sensitive syndrome-1 (UVSS1) is caused by homozygous mutation in the ERCC6 gene (609413) on chromosome 10q11.</p><p>Cockayne syndrome type B (CSB; 133540) is an allelic disorder with a more severe phenotype, including neurologic and skeletal abnormalities.</p>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</div>
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<span class="mim-text-font">
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<p>UV-sensitive syndrome-1 (UVSS1) is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Horibata et al., 2004). </p><p><strong><em>Genetic Heterogeneity of UV-Sensitive Syndrome</em></strong></p><p>
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See also UVSS2 (614621), caused by mutation in the ERCC8 gene (609412) on chromosome 5q12, and UVSS3 (614640), caused by mutation in the UVSSA gene (614632) on chromosome 4p16.</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>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Fujiwara et al. (1981) reported a Japanese boy, born of consanguineous parents, with UV sensitivity syndrome. The patient exhibited a number of freckles, hypopigmented spots, telangiectasia, and slightly dried skin in sun-exposed areas, but no growth retardation or neurologic abnormalities at age 8 years. Patient fibroblasts were 5-fold more sensitive to UV irradiation compared to control cells, although the response of obligatory heterozygotes was normal. Although unscheduled DNA synthesis (UDS) and other nucleotide-excision repair processes were normal, patient cells showed a defective recovery of DNA synthesis after UV irradiation. Fujiwara et al. (1981) concluded that the patient had a new photodermatosis with a specific defect in the recovery of post-UV DNA synthesis. Itoh et al. (1996) reported follow-up of the patient (UV81KO) reported by Fujiwara et al. (1981). The patient was noted as being photosensitive at age 3 months. He had no skin tumors, and growth and development were normal. Laboratory studies on patient fibroblasts showed a specific failure of RRS after UV irradiation, although UDS was normal. The biochemical findings were reminiscent of Cockayne syndrome, but the patient had no other abnormalities consistent with that disorder. Horibata et al. (2004) reported follow-up of the patient reported by Fujiwara et al. (1981), who was 33 years of age at the time of the report. He had been healthy except for abnormal photosensitivity. He was 183 cm tall and weighed 64 kg. He had a slightly dark basal skin color and numerous small spots of pigmentation on his face, the extensor surface of his forearms, and the back of his hands. He had had no skin cancers and no neurologic abnormalities. </p><p>Miyauchi-Hashimoto et al. (1998) reported a Japanese boy with atypical Cockayne syndrome whose only clinical manifestations were photosensitivity and pigmented freckles on sun-exposed areas. He showed photosensitivity at age 4 months and had severe recurrent sunburns. His skin showed pigmented freckling and scaling, particularly on the face. Cultured skin fibroblasts showed extreme UV sensitivity and a defect of recovery of RNA synthesis after UV radiation, but an almost normal amount of UDS. The clinical features and cellular characteristics of the patient were consistent with UVSS. However, the patient was assigned to Cockayne syndrome type B by complementation analysis. The report suggested that Cockayne syndrome has a wider spectrum than previously considered. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Horibata et al. (2004) demonstrated that UVSS1 is an autosomal recessive disorder. </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>To identify the gene responsible for UV-sensitive syndrome, Horibata et al. (2004) performed a microcell-mediated chromosome transfer based on the functional complementation of UV hypersensitivity. They found that a cell line from the patient described by Fujiwara et al. (1981) acquired UV resistance when human chromosome 10 was transferred. Because the gene responsible for Cockayne syndrome group B (ERCC6; 609413), which involves neurologic abnormalities and photosensitivity as well as a defect in transcription-coupled DNA repair of UV damage, is located on chromosome 10, Horibata et al. (2004) sequenced the ERCC6 gene and identified a homozygous null mutation (R77X; 609413.0009). This finding was surprising because a null mutation of the ERCC6 gene would be expected to result in the features of Cockayne syndrome, such as severe developmental and neurologic abnormalities. On the other hand, Horibata et al. (2004) found no mutation in the ERCC6 cDNA and normal amounts of ERCC6 protein in another cell line from an unrelated patient with UV-sensitive syndrome, indicating genetic heterogeneity of this condition. Hypotheses explaining the discrepancy between null mutation of the ERCC6 gene and absence of Cockayne syndrome features were presented. </p><p>In a Japanese patient with UVSS assigned to Cockayne syndrome type B based on complementation studies (Miyauchi-Hashimoto et al., 1998), Nakazawa et al. (2012) identified a homozygous R77X mutation in the ERCC6 gene. </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>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 and Hultner (1995)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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Cleaver, J. E., Hultner, M. L.
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<strong>Transcription-related human disorders. (Editorial)</strong>
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Am. J. Hum. Genet. 56: 1257-1261, 1995.
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[PubMed: 7762548]
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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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Fujiwara, Y., Ichihashi, M., Kano, Y., Goto, K., Shimizu, K.
|
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<strong>A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation.</strong>
|
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J. Invest. Derm. 77: 256-263, 1981.
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[PubMed: 7264357]
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[Full Text: https://doi.org/10.1111/1523-1747.ep12482447]
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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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Horibata, K., Iwamoto, Y., Kuraoka, I., Jaspers, N. G. J., Kurimasa, A., Oshimura, M., Ichihashi, M., Tanaka, K.
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<strong>Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.</strong>
|
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Proc. Nat. Acad. Sci. 101: 15410-15415, 2004.
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[PubMed: 15486090]
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[Full Text: https://doi.org/10.1073/pnas.0404587101]
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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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Itoh, T., Yamaizumi, M., Ichihashi, M., Hiro-oka, M., Matsui, T., Matsuno, M., Ono, T.
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<strong>Clinical characteristics of three patients with UV-S syndrome, a photosensitive disorder with defective DNA repair.</strong>
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Brit. J. Derm. 134: 1147-1150, 1996.
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[PubMed: 8763445]
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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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Miyauchi-Hashimoto, H., Akaeda, T., Maihara, T., Ikenaga, M., Horio, T.
|
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<strong>Cockayne syndrome without typical clinical manifestations including neurologic abnormalities.</strong>
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J. Am. Acad. Derm. 39: 565-570, 1998.
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[PubMed: 9777763]
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[Full Text: https://doi.org/10.1016/s0190-9622(98)70005-2]
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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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Nakazawa, Y., Sasaki, K., Mitsutake, N., Matsuse, M., Shimada, M., Nardo, T., Takahashi, Y., Ohyama, K., Ito, K., Mishima, H., Nomura, M., Kinoshita, A., and 12 others.
|
|
<strong>Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.</strong>
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Nature Genet. 44: 586-592, 2012.
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[PubMed: 22466610]
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[Full Text: https://doi.org/10.1038/ng.2229]
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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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<span class="text-nowrap mim-text-font">
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/15/2012<br>Victor A. McKusick - updated : 11/29/2004
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/29/1995
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carol : 02/06/2024<br>carol : 11/15/2017<br>carol : 05/16/2012<br>ckniffin : 5/15/2012<br>carol : 3/21/2012<br>ckniffin : 6/15/2005<br>tkritzer : 12/8/2004<br>terry : 11/29/2004<br>mgross : 3/17/2004<br>carol : 2/26/2002<br>terry : 3/5/1996<br>mimadm : 11/3/1995<br>terry : 7/28/1995<br>mark : 6/29/1995
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