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<title>
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Entry
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- #601583 - WILMS TUMOR 5; WT5
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- OMIM
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<span class="h4">#601583</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/601583"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS194070"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=(WILMS TUMOR) OR (POU6F2)" 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=852&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/7504" 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=601583[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=654" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<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> 654<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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601583
|
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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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WILMS TUMOR 5; WT5
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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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WILMS TUMOR, SUSCEPTIBILITY TO; WTSL
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="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>
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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/7/205?start=-3&limit=10&highlight=205">
|
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7p14.1
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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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{Wilms tumor susceptibility-5}
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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/601583"> 601583 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Somatic mutation">SMu</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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POU6F2
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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/609062"> 609062 </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/601583" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS194070" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/601583" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/601583" 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 dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br /> -
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Somatic mutation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124975008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124975008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866227</a>, <a href="https://bioportal.bioontology.org/search?q=C0544886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0544886</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</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">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nephroblastoma (Wilms tumor) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25081006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25081006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027708</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002667" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002667</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002667" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002667</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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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Nephroblastoma (Wilms tumor) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25081006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25081006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027708</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002667" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002667</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002667" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002667</a>]</span><br />
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|
|
</span>
|
|
</div>
|
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|
|
</div>
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</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Tumor suppressor gene <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/77864004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">77864004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0079427&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0079427</a>]</span><br /> -
|
|
Most cases are sporadic<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">
|
|
|
|
- Linked to a locus at 7p15-p11.2.<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>
|
|
Wilms tumor
|
|
- <a href="/phenotypicSeries/PS194070">PS194070</a>
|
|
- 8 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/4/243?start=-3&limit=10&highlight=243"> 4q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616806"> {Wilms tumor 6, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616806"> 616806 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600571"> REST </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600571"> 600571 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/205?start=-3&limit=10&highlight=205"> 7p14.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601583"> {Wilms tumor susceptibility-5} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Somatic mutation">SMu</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601583"> 601583 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609062"> POU6F2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609062"> 609062 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/71?start=-3&limit=10&highlight=71"> 11p15.5 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/194071"> Wilms tumor 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Somatic mutation">SMu</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/194071"> 194071 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616186"> ICR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616186"> 616186 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/284?start=-3&limit=10&highlight=284"> 11p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/194070"> Wilms tumor, type 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Somatic mutation">SMu</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/194070"> 194070 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607102"> WT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because of evidence that susceptibility to Wilms tumor-5 (WT5) is conferred by heterozygous mutation in the POU6F2 gene (<a href="/entry/609062">609062</a>) on chromosome 7p14.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of Wilms tumor, see WT1 (<a href="/entry/194070">194070</a>).</p>
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<p><a href="#7" class="mim-tip-reference" title="Wilmore, H. P., White, G. F. J., Howell, R. T., Brown, K. W. <strong>Germline and somatic abnormalities of chromosome 7 in Wilms' tumor.</strong> Cancer Genet. Cytogenet. 77: 93-98, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7954327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7954327</a>] [<a href="https://doi.org/10.1016/0165-4608(94)90221-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7954327">Wilmore et al. (1994)</a> observed a Wilms tumor patient who had a constitutional balanced translocation between chromosomes 1 and 7, t(1;7)(q42;p15), and suggested that the breakpoints might represent a Wilms tumor predisposition gene. Cytogenetic analysis of the tumor from this patient revealed an acquired abnormality of the other chromosome 7, resulting in an isochromosome of the long arm. This confirmed the monosomy of 7p and trisomy of 7q in the tumor of the translocation patient, and in addition a loss of 7p alleles was identified in a WT from a bilaterally affected patient. Also, 2 WTs were shown to have an extra copy of chromosome 7 alleles. Multiple copies of chromosome 1q alleles, probably resulting from secondary changes, were observed in 2 WTs, 1 of which was also associated with a trisomy of chromosome 7. These results suggested that 7p may contain a tumor suppressor gene involved in WT development, and that duplication of 7q also may play a role in WT development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7954327" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Vernon, E. G., Malik, K., Reynolds, P., Powlesland, R., Dallosso, A. R., Jackson, S., Henthorn, K., Green, E. D., Brown, K. W. <strong>The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour.</strong> Oncogene 22: 1371-1380, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618763</a>] [<a href="https://doi.org/10.1038/sj.onc.1206332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12618763">Vernon et al. (2003)</a> found that the B1 gene (<a href="/entry/607968">607968</a>) was interrupted by a translocation t(1;7)(q42;p15) associated with WT5 in a child with Wilms tumor and skeletal abnormalities. The breakpoint bisected intron 1 of the obscurin gene (<a href="/entry/608616">608616</a>) on chromosome 1 and intron 22 of the B1 gene on chromosome 7. The translocation altered expression of 2 B1 isoforms. <a href="#6" class="mim-tip-reference" title="Vernon, E. G., Malik, K., Reynolds, P., Powlesland, R., Dallosso, A. R., Jackson, S., Henthorn, K., Green, E. D., Brown, K. W. <strong>The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour.</strong> Oncogene 22: 1371-1380, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618763</a>] [<a href="https://doi.org/10.1038/sj.onc.1206332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12618763">Vernon et al. (2003)</a> also identified additional B1 splice isoforms and aberrant isoform expression in 2 of 8 additional WT5 tumors that showed 7p loss of heterozygosity. These splice variants were tumor-specific and were not associated with tumor differentiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12618763" 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="#2" class="mim-tip-reference" title="Miozzo, M., Perotti, D., Minoletti, F., Mondini, P., Pilotti, S., Luksch, R., Fossati-Bellani, F., Pierotti, M. A., Sozzi, G., Radice, P. <strong>Mapping of a putative tumor suppressor locus to proximal 7p in Wilms tumors.</strong> Genomics 37: 310-315, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8938443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8938443</a>] [<a href="https://doi.org/10.1006/geno.1996.0565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8938443">Miozzo et al. (1996)</a> carried out an analysis on 11 sporadic Wilms tumors to test the hypothesis that alterations in chromosome 7 genes play a role in the development of these tumors. They identified a region of loss of heterozygosity (LOH) in the tumors analyzed. This region is flanked by the loci D7S506 and D7S526 and spans approximately 25 cM on chromosome 7p11.2 to 7p15. <a href="#5" class="mim-tip-reference" title="Reynolds, P. A., Powlesland, R. M., Keen, T. J., Inglehearn, C. F., Cunningham, A. F., Green, E. D., Brown, K. W. <strong>Localization of a novel t(1;7) translocation associated with Wilms' tumor predisposition and skeletal abnormalities.</strong> Genes Chromosomes Cancer 17: 151-155, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8946193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8946193</a>] [<a href="https://doi.org/10.1002/(SICI)1098-2264(199611)17:3<151::AID-GCC2>3.0.CO;2-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8946193">Reynolds et al. (1996)</a> investigated a patient who presented with 1 Wilms tumor and bilateral nephrogenic rests (suggestive of a predisposition) associated with a de novo t(1;7)(q42;p15) constitutional translocation as the only visible cytogenetic abnormality. He also had bilateral radial aplasia and other skeletal abnormalities, but there was no manifestation of any syndrome previously associated with Wilms tumors. In the tumor, the translocation was retained, and the other 7p region was lost by formation of an isochromosome i(7q). <a href="#5" class="mim-tip-reference" title="Reynolds, P. A., Powlesland, R. M., Keen, T. J., Inglehearn, C. F., Cunningham, A. F., Green, E. D., Brown, K. W. <strong>Localization of a novel t(1;7) translocation associated with Wilms' tumor predisposition and skeletal abnormalities.</strong> Genes Chromosomes Cancer 17: 151-155, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8946193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8946193</a>] [<a href="https://doi.org/10.1002/(SICI)1098-2264(199611)17:3<151::AID-GCC2>3.0.CO;2-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8946193">Reynolds et al. (1996)</a> localized the chromosome 7 breakpoint within a YAC contig by using fluorescence in situ hybridization. They suggested that the region disrupted by the translocation is the site of a novel tumor suppressor gene that is involved in Wilms tumor and also in normal renal development. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8946193+8938443" 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="#1" class="mim-tip-reference" title="Grundy, R. G., Pritchard, J., Scambler, P., Cowell, J. K. <strong>Loss of heterozygosity for the short arm of chromosome 7 in sporadic Wilms tumour.</strong> Oncogene 17: 395-400, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9690521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9690521</a>] [<a href="https://doi.org/10.1038/sj.onc.1201927" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9690521">Grundy et al. (1998)</a> performed LOH in studies of 7p in 40 sporadic Wilms tumors, using a panel of 10 microsatellite polymorphic markers distributed along the length of the chromosome arm. Four tumors (10%) showed allelic loss for 7p markers which was twice the background rate of LOH in WT. The shortest common region of overlap of LOH was located between markers D7S517 and D7S503 in band 7p21-p15. In 1 tumor there was evidence for a homozygous interstitial deletion at a locus within this region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9690521" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Perotti, D., Testi, M. A., Mondini, P., Pilotti, S., Green, E. D., Pession, A., Sozzi, G., Pierotti, M. A., Fossati Bellani, F., Radice, P. <strong>Refinement within single yeast artificial chromosome clones of a minimal region commonly deleted on the short arm of chromosome 7 in Wilms tumours.</strong> Genes Chromosomes Cancer 31: 42-47, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11284034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11284034</a>] [<a href="https://doi.org/10.1002/gcc.1116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11284034">Perotti et al. (2001)</a> reported the molecular and cytogenetic characterization of a patient with Wilms tumor carrying an interstitial deletion in 7p14. LOH studies revealed that the same region was lost in 8 of 38 examined WTs, suggesting that the identified interval contains a putative tumor suppressor gene. To confirm this hypothesis, <a href="#3" class="mim-tip-reference" title="Perotti, D., De Vecchi, G., Testi, M. A., Lualdi, E., Modena, P., Mondini, P., Ravagnani, F., Collini, P., Di Renzo, F., Spreafico, F., Terenziani, M., Sozzi, G., Fossati-Bellani, F., Radice, P. <strong>Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14.</strong> Hum. Mutat. 24: 400-407, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15459955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15459955</a>] [<a href="https://doi.org/10.1002/humu.20096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15459955">Perotti et al. (2004)</a> analyzed an additional 35 WTs, 4 of which showed LOH in the region of interest. Furthermore, they defined more accurately the extension of the interstitial deletion, mapping it within an interval of approximately 390 kb. They stated that only a single expressed gene, POU6F2, had been identified in this interval. Sequencing of the gene in 12 WTs showing LOH and in a corresponding number of WT cases without LOH led to the identification of 2 germline mutations in the POU6F2 gene in 2 patients showing LOH (<a href="/entry/609062#0001">609062.0001</a>-<a href="/entry/609062#0002">609062.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11284034+15459955" 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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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Grundy1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Grundy, R. G., Pritchard, J., Scambler, P., Cowell, J. K.
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<strong>Loss of heterozygosity for the short arm of chromosome 7 in sporadic Wilms tumour.</strong>
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Oncogene 17: 395-400, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9690521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9690521</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9690521" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.onc.1201927" target="_blank">Full Text</a>]
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<a id="Miozzo1996" class="mim-anchor"></a>
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Miozzo, M., Perotti, D., Minoletti, F., Mondini, P., Pilotti, S., Luksch, R., Fossati-Bellani, F., Pierotti, M. A., Sozzi, G., Radice, P.
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<strong>Mapping of a putative tumor suppressor locus to proximal 7p in Wilms tumors.</strong>
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Genomics 37: 310-315, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8938443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8938443</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8938443" 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/10.1006/geno.1996.0565" target="_blank">Full Text</a>]
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<a id="Perotti2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Perotti, D., De Vecchi, G., Testi, M. A., Lualdi, E., Modena, P., Mondini, P., Ravagnani, F., Collini, P., Di Renzo, F., Spreafico, F., Terenziani, M., Sozzi, G., Fossati-Bellani, F., Radice, P.
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<strong>Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14.</strong>
|
|
Hum. Mutat. 24: 400-407, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15459955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15459955</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15459955" 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/humu.20096" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Perotti2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Perotti, D., Testi, M. A., Mondini, P., Pilotti, S., Green, E. D., Pession, A., Sozzi, G., Pierotti, M. A., Fossati Bellani, F., Radice, P.
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|
<strong>Refinement within single yeast artificial chromosome clones of a minimal region commonly deleted on the short arm of chromosome 7 in Wilms tumours.</strong>
|
|
Genes Chromosomes Cancer 31: 42-47, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11284034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11284034</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11284034" 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/gcc.1116" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Reynolds1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Reynolds, P. A., Powlesland, R. M., Keen, T. J., Inglehearn, C. F., Cunningham, A. F., Green, E. D., Brown, K. W.
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<strong>Localization of a novel t(1;7) translocation associated with Wilms' tumor predisposition and skeletal abnormalities.</strong>
|
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Genes Chromosomes Cancer 17: 151-155, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8946193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8946193</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8946193" 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)1098-2264(199611)17:3<151::AID-GCC2>3.0.CO;2-3" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Vernon2003" class="mim-anchor"></a>
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<div class="">
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Vernon, E. G., Malik, K., Reynolds, P., Powlesland, R., Dallosso, A. R., Jackson, S., Henthorn, K., Green, E. D., Brown, K. W.
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<strong>The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour.</strong>
|
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Oncogene 22: 1371-1380, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618763</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12618763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.onc.1206332" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Wilmore1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wilmore, H. P., White, G. F. J., Howell, R. T., Brown, K. W.
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<strong>Germline and somatic abnormalities of chromosome 7 in Wilms' tumor.</strong>
|
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Cancer Genet. Cytogenet. 77: 93-98, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7954327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7954327</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7954327" 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/10.1016/0165-4608(94)90221-6" target="_blank">Full Text</a>]
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<br />
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 12/2/2004
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 7/22/2003<br>Victor A. McKusick - updated : 11/12/1998<br>Victor A. McKusick - updated : 11/14/1997<br>Victor A. McKusick - updated : 9/3/1997
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Moyra Smith : 12/17/1996
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/23/2020
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/03/2019<br>carol : 10/16/2009<br>terry : 2/7/2005<br>carol : 12/7/2004<br>terry : 12/2/2004<br>mgross : 4/27/2004<br>carol : 3/19/2004<br>mgross : 7/22/2003<br>carol : 11/19/1998<br>terry : 11/12/1998<br>mark : 11/17/1997<br>terry : 11/14/1997<br>terry : 11/14/1997<br>mark : 9/15/1997<br>terry : 9/3/1997<br>jamie : 12/18/1996<br>jamie : 12/17/1996
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</span>
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>#</strong> 601583
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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WILMS TUMOR 5; WT5
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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WILMS TUMOR, SUSCEPTIBILITY TO; WTSL
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 654;
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</span>
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</p>
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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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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</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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7p14.1
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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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{Wilms tumor susceptibility-5}
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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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601583
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant; Somatic mutation
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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POU6F2
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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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609062
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</span>
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</td>
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</tbody>
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</table>
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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>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that susceptibility to Wilms tumor-5 (WT5) is conferred by heterozygous mutation in the POU6F2 gene (609062) on chromosome 7p14.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of Wilms tumor, see WT1 (194070).</p>
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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>Cytogenetics</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>Wilmore et al. (1994) observed a Wilms tumor patient who had a constitutional balanced translocation between chromosomes 1 and 7, t(1;7)(q42;p15), and suggested that the breakpoints might represent a Wilms tumor predisposition gene. Cytogenetic analysis of the tumor from this patient revealed an acquired abnormality of the other chromosome 7, resulting in an isochromosome of the long arm. This confirmed the monosomy of 7p and trisomy of 7q in the tumor of the translocation patient, and in addition a loss of 7p alleles was identified in a WT from a bilaterally affected patient. Also, 2 WTs were shown to have an extra copy of chromosome 7 alleles. Multiple copies of chromosome 1q alleles, probably resulting from secondary changes, were observed in 2 WTs, 1 of which was also associated with a trisomy of chromosome 7. These results suggested that 7p may contain a tumor suppressor gene involved in WT development, and that duplication of 7q also may play a role in WT development. </p><p>Vernon et al. (2003) found that the B1 gene (607968) was interrupted by a translocation t(1;7)(q42;p15) associated with WT5 in a child with Wilms tumor and skeletal abnormalities. The breakpoint bisected intron 1 of the obscurin gene (608616) on chromosome 1 and intron 22 of the B1 gene on chromosome 7. The translocation altered expression of 2 B1 isoforms. Vernon et al. (2003) also identified additional B1 splice isoforms and aberrant isoform expression in 2 of 8 additional WT5 tumors that showed 7p loss of heterozygosity. These splice variants were tumor-specific and were not associated with tumor differentiation. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>Miozzo et al. (1996) carried out an analysis on 11 sporadic Wilms tumors to test the hypothesis that alterations in chromosome 7 genes play a role in the development of these tumors. They identified a region of loss of heterozygosity (LOH) in the tumors analyzed. This region is flanked by the loci D7S506 and D7S526 and spans approximately 25 cM on chromosome 7p11.2 to 7p15. Reynolds et al. (1996) investigated a patient who presented with 1 Wilms tumor and bilateral nephrogenic rests (suggestive of a predisposition) associated with a de novo t(1;7)(q42;p15) constitutional translocation as the only visible cytogenetic abnormality. He also had bilateral radial aplasia and other skeletal abnormalities, but there was no manifestation of any syndrome previously associated with Wilms tumors. In the tumor, the translocation was retained, and the other 7p region was lost by formation of an isochromosome i(7q). Reynolds et al. (1996) localized the chromosome 7 breakpoint within a YAC contig by using fluorescence in situ hybridization. They suggested that the region disrupted by the translocation is the site of a novel tumor suppressor gene that is involved in Wilms tumor and also in normal renal development. </p><p>Grundy et al. (1998) performed LOH in studies of 7p in 40 sporadic Wilms tumors, using a panel of 10 microsatellite polymorphic markers distributed along the length of the chromosome arm. Four tumors (10%) showed allelic loss for 7p markers which was twice the background rate of LOH in WT. The shortest common region of overlap of LOH was located between markers D7S517 and D7S503 in band 7p21-p15. In 1 tumor there was evidence for a homozygous interstitial deletion at a locus within this region. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>Perotti et al. (2001) reported the molecular and cytogenetic characterization of a patient with Wilms tumor carrying an interstitial deletion in 7p14. LOH studies revealed that the same region was lost in 8 of 38 examined WTs, suggesting that the identified interval contains a putative tumor suppressor gene. To confirm this hypothesis, Perotti et al. (2004) analyzed an additional 35 WTs, 4 of which showed LOH in the region of interest. Furthermore, they defined more accurately the extension of the interstitial deletion, mapping it within an interval of approximately 390 kb. They stated that only a single expressed gene, POU6F2, had been identified in this interval. Sequencing of the gene in 12 WTs showing LOH and in a corresponding number of WT cases without LOH led to the identification of 2 germline mutations in the POU6F2 gene in 2 patients showing LOH (609062.0001-609062.0002). </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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<p class="mim-text-font">
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Grundy, R. G., Pritchard, J., Scambler, P., Cowell, J. K.
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<strong>Loss of heterozygosity for the short arm of chromosome 7 in sporadic Wilms tumour.</strong>
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Oncogene 17: 395-400, 1998.
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[PubMed: 9690521]
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[Full Text: https://doi.org/10.1038/sj.onc.1201927]
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Miozzo, M., Perotti, D., Minoletti, F., Mondini, P., Pilotti, S., Luksch, R., Fossati-Bellani, F., Pierotti, M. A., Sozzi, G., Radice, P.
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<strong>Mapping of a putative tumor suppressor locus to proximal 7p in Wilms tumors.</strong>
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Genomics 37: 310-315, 1996.
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[PubMed: 8938443]
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[Full Text: https://doi.org/10.1006/geno.1996.0565]
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Perotti, D., De Vecchi, G., Testi, M. A., Lualdi, E., Modena, P., Mondini, P., Ravagnani, F., Collini, P., Di Renzo, F., Spreafico, F., Terenziani, M., Sozzi, G., Fossati-Bellani, F., Radice, P.
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<strong>Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14.</strong>
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Hum. Mutat. 24: 400-407, 2004.
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[PubMed: 15459955]
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[Full Text: https://doi.org/10.1002/humu.20096]
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Perotti, D., Testi, M. A., Mondini, P., Pilotti, S., Green, E. D., Pession, A., Sozzi, G., Pierotti, M. A., Fossati Bellani, F., Radice, P.
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<strong>Refinement within single yeast artificial chromosome clones of a minimal region commonly deleted on the short arm of chromosome 7 in Wilms tumours.</strong>
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Genes Chromosomes Cancer 31: 42-47, 2001.
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[PubMed: 11284034]
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[Full Text: https://doi.org/10.1002/gcc.1116]
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<p class="mim-text-font">
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Reynolds, P. A., Powlesland, R. M., Keen, T. J., Inglehearn, C. F., Cunningham, A. F., Green, E. D., Brown, K. W.
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<strong>Localization of a novel t(1;7) translocation associated with Wilms' tumor predisposition and skeletal abnormalities.</strong>
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Genes Chromosomes Cancer 17: 151-155, 1996.
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[PubMed: 8946193]
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[Full Text: https://doi.org/10.1002/(SICI)1098-2264(199611)17:3<151::AID-GCC2>3.0.CO;2-3]
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<li>
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<p class="mim-text-font">
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Vernon, E. G., Malik, K., Reynolds, P., Powlesland, R., Dallosso, A. R., Jackson, S., Henthorn, K., Green, E. D., Brown, K. W.
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<strong>The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour.</strong>
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Oncogene 22: 1371-1380, 2003.
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[PubMed: 12618763]
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[Full Text: https://doi.org/10.1038/sj.onc.1206332]
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Wilmore, H. P., White, G. F. J., Howell, R. T., Brown, K. W.
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<strong>Germline and somatic abnormalities of chromosome 7 in Wilms' tumor.</strong>
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Cancer Genet. Cytogenet. 77: 93-98, 1994.
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[PubMed: 7954327]
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[Full Text: https://doi.org/10.1016/0165-4608(94)90221-6]
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Contributors:
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Victor A. McKusick - updated : 12/2/2004<br>Patricia A. Hartz - updated : 7/22/2003<br>Victor A. McKusick - updated : 11/12/1998<br>Victor A. McKusick - updated : 11/14/1997<br>Victor A. McKusick - updated : 9/3/1997
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Moyra Smith : 12/17/1996
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