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Entry
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- #610896 - BRANCHIOOTORENAL SYNDROME 2; BOR2
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- OMIM
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<p>
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<span class="h4">#610896</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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="/phenotypicSeries/PS113650"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#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 style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=BRANCHIOOTORENAL SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=237&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1380/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/957" 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://medlineplus.gov/genetics/condition/branchiootorenal-branchiootic-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=610896[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=107" 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-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111424" 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/610896" 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:0111424" 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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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 107<br />
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<strong>DO:</strong> 0111424<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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610896
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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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BRANCHIOOTORENAL SYNDROME 2; BOR2
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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>
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Gene/Locus <br /> MIM number
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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/19/832?start=-3&limit=10&highlight=832">
|
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19q13.32
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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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Branchiootorenal syndrome 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610896"> 610896 </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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</span>
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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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</td>
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<td>
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<span class="mim-font">
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SIX5
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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/600963"> 600963 </a>
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</span>
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</td>
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</table>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS113650" 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="sr-only">Toggle Dropdown</span>
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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/610896" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/610896" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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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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Branchiootorenal syndrome
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- <a href="/phenotypicSeries/PS113650">PS113650</a>
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- 2 Entries
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<a href="/entry/113650"> Branchiootorenal syndrome 1, with or without cataracts </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<a href="/entry/610896"> Branchiootorenal syndrome 2 </a>
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<a href="/entry/600963"> SIX5 </a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that branchiootorenal syndrome-2 (BOR2) is caused by heterozygous mutation in the SIX5 gene (<a href="/entry/600963">600963</a>) on chromosome 19q13.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of the branchiootorenal syndrome, see BOR1 (<a href="/entry/113650">113650</a>).</p>
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<p><a href="#1" class="mim-tip-reference" title="Hoskins, B. E., Cramer, C. H., II, Silvius, D., Zou, D., Raymond, R. M., Jr., Orten, D. J., Kimberling, W. J., Smith, R. J. H., Weil, D., Petit, C., Otto, E. A., Xu, P.-X., Hildebrandt, F. <strong>Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.</strong> Am. J. Hum. Genet. 80: 800-804, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17357085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17357085</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17357085[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/513322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17357085">Hoskins et al. (2007)</a> reported 5 patients with a clinical diagnosis of BOR who carried heterozygous mutations in the SIX5 gene. One of the patients had bilateral dysplastic kidneys and a right preauricular tag but normal hearing. A second had bilateral cervical fistulas; right-sided hemifacial microsomia, preauricular sinus, and pinna malformation; hearing loss in both ears, with the right side more affected than the left; and bilateral renal dysplasia with diminished renal function. Another patient had cervical fistulas and hypoplastic kidneys, and a fourth had cervical fistulas, moderate to severe hearing loss in both ears, and left renal agenesis with a hypoplastic right kidney. Clinical data were unavailable in the fifth subject. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17357085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Hoskins, B. E., Cramer, C. H., II, Silvius, D., Zou, D., Raymond, R. M., Jr., Orten, D. J., Kimberling, W. J., Smith, R. J. H., Weil, D., Petit, C., Otto, E. A., Xu, P.-X., Hildebrandt, F. <strong>Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.</strong> Am. J. Hum. Genet. 80: 800-804, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17357085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17357085</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17357085[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/513322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17357085">Hoskins et al. (2007)</a> identified 4 mutations in the SIX5 gene (<a href="/entry/600963">600963</a>) as a novel cause of BOR in 5 patients. The SIX5 gene was considered a good candidate for BOR owing to its similarity to SIX1 (<a href="/entry/601205">601205</a>), mutations in which cause branchiootic syndrome-3 (<a href="/entry/608389">608389</a>), and data on C. elegans on its direct interaction with eya-1 (<a href="/entry/601653">601653</a>), mutations in which also cause BOR (<a href="#3" class="mim-tip-reference" title="Li, S., Armstrong, C. M., Bertin, N., Ge, H., Milstein, S., Boxem, M., Vadalian, P.-O., Han, J.-D. J., Chesneau, A., Hao, T., Goldberg, D. S., Li, N., and 36 others. <strong>A map of the interactome network of the metazoan C. elegans.</strong> Science 303: 540-543, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14704431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14704431</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14704431[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/10.1126/science.1091403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14704431">Li et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14704431+17357085" 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 1 of the patients reported by <a href="#1" class="mim-tip-reference" title="Hoskins, B. E., Cramer, C. H., II, Silvius, D., Zou, D., Raymond, R. M., Jr., Orten, D. J., Kimberling, W. J., Smith, R. J. H., Weil, D., Petit, C., Otto, E. A., Xu, P.-X., Hildebrandt, F. <strong>Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.</strong> Am. J. Hum. Genet. 80: 800-804, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17357085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17357085</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17357085[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/513322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17357085">Hoskins et al. (2007)</a> as carrying a mutation in the SIX5 gene (T552M; <a href="/entry/600963#0004">600963.0004</a>), <a href="#2" class="mim-tip-reference" title="Krug, P., Moriniere, V., Marlin, S., Koubi, V., Gabriel, H. D., Colin, E., Bonneau, D., Salomon, R., Antignac, C., Heidet, L. <strong>Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.</strong> Hum. Mutat. 32: 183-190, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21280147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21280147</a>] [<a href="https://doi.org/10.1002/humu.21402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21280147">Krug et al. (2011)</a> identified a mutation in the EYA1 gene, a deletion removing exons 3, 4, and 5. This patient's DNA had been tested for EYA1 mutations by direct sequencing, but not for abnormal copy number. This observation, in addition to the extreme rarity of SIX5 mutations, caused <a href="#2" class="mim-tip-reference" title="Krug, P., Moriniere, V., Marlin, S., Koubi, V., Gabriel, H. D., Colin, E., Bonneau, D., Salomon, R., Antignac, C., Heidet, L. <strong>Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.</strong> Hum. Mutat. 32: 183-190, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21280147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21280147</a>] [<a href="https://doi.org/10.1002/humu.21402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21280147">Krug et al. (2011)</a> to reconsider the role of SIX5 in branchiootorenal syndrome etiology. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21280147+17357085" 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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Hoskins, B. E., Cramer, C. H., II, Silvius, D., Zou, D., Raymond, R. M., Jr., Orten, D. J., Kimberling, W. J., Smith, R. J. H., Weil, D., Petit, C., Otto, E. A., Xu, P.-X., Hildebrandt, F.
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<strong>Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.</strong>
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Am. J. Hum. Genet. 80: 800-804, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17357085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17357085</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17357085[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=17357085" 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/10.1086/513322" target="_blank">Full Text</a>]
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Krug, P., Moriniere, V., Marlin, S., Koubi, V., Gabriel, H. D., Colin, E., Bonneau, D., Salomon, R., Antignac, C., Heidet, L.
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<strong>Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.</strong>
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Hum. Mutat. 32: 183-190, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21280147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21280147</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21280147" 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.21402" target="_blank">Full Text</a>]
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Li, S., Armstrong, C. M., Bertin, N., Ge, H., Milstein, S., Boxem, M., Vadalian, P.-O., Han, J.-D. J., Chesneau, A., Hao, T., Goldberg, D. S., Li, N., and 36 others.
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<strong>A map of the interactome network of the metazoan C. elegans.</strong>
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Science 303: 540-543, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14704431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14704431</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14704431[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=14704431" 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/10.1126/science.1091403" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 12/05/2014
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Victor A. McKusick : 3/28/2007
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alopez : 12/05/2014
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carol : 12/4/2014<br>carol : 9/16/2013<br>terry : 2/29/2012<br>terry : 1/27/2012<br>alopez : 3/29/2007
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<strong>ORPHA:</strong> 107;
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<strong>DO:</strong> 0111424;
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19q13.32
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Branchiootorenal syndrome 2
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610896
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3
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SIX5
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600963
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<p>A number sign (#) is used with this entry because of evidence that branchiootorenal syndrome-2 (BOR2) is caused by heterozygous mutation in the SIX5 gene (600963) on chromosome 19q13.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of the branchiootorenal syndrome, see BOR1 (113650).</p>
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<strong>Clinical Features</strong>
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<p>Hoskins et al. (2007) reported 5 patients with a clinical diagnosis of BOR who carried heterozygous mutations in the SIX5 gene. One of the patients had bilateral dysplastic kidneys and a right preauricular tag but normal hearing. A second had bilateral cervical fistulas; right-sided hemifacial microsomia, preauricular sinus, and pinna malformation; hearing loss in both ears, with the right side more affected than the left; and bilateral renal dysplasia with diminished renal function. Another patient had cervical fistulas and hypoplastic kidneys, and a fourth had cervical fistulas, moderate to severe hearing loss in both ears, and left renal agenesis with a hypoplastic right kidney. Clinical data were unavailable in the fifth subject. </p>
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<strong>Molecular Genetics</strong>
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<p>Hoskins et al. (2007) identified 4 mutations in the SIX5 gene (600963) as a novel cause of BOR in 5 patients. The SIX5 gene was considered a good candidate for BOR owing to its similarity to SIX1 (601205), mutations in which cause branchiootic syndrome-3 (608389), and data on C. elegans on its direct interaction with eya-1 (601653), mutations in which also cause BOR (Li et al., 2004). </p><p>In 1 of the patients reported by Hoskins et al. (2007) as carrying a mutation in the SIX5 gene (T552M; 600963.0004), Krug et al. (2011) identified a mutation in the EYA1 gene, a deletion removing exons 3, 4, and 5. This patient's DNA had been tested for EYA1 mutations by direct sequencing, but not for abnormal copy number. This observation, in addition to the extreme rarity of SIX5 mutations, caused Krug et al. (2011) to reconsider the role of SIX5 in branchiootorenal syndrome etiology. </p>
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<strong>REFERENCES</strong>
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Hoskins, B. E., Cramer, C. H., II, Silvius, D., Zou, D., Raymond, R. M., Jr., Orten, D. J., Kimberling, W. J., Smith, R. J. H., Weil, D., Petit, C., Otto, E. A., Xu, P.-X., Hildebrandt, F.
|
|
<strong>Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.</strong>
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Am. J. Hum. Genet. 80: 800-804, 2007.
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[PubMed: 17357085]
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[Full Text: https://doi.org/10.1086/513322]
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Krug, P., Moriniere, V., Marlin, S., Koubi, V., Gabriel, H. D., Colin, E., Bonneau, D., Salomon, R., Antignac, C., Heidet, L.
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<strong>Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.</strong>
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Hum. Mutat. 32: 183-190, 2011.
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[PubMed: 21280147]
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[Full Text: https://doi.org/10.1002/humu.21402]
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Li, S., Armstrong, C. M., Bertin, N., Ge, H., Milstein, S., Boxem, M., Vadalian, P.-O., Han, J.-D. J., Chesneau, A., Hao, T., Goldberg, D. S., Li, N., and 36 others.
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<strong>A map of the interactome network of the metazoan C. elegans.</strong>
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Science 303: 540-543, 2004.
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[PubMed: 14704431]
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[Full Text: https://doi.org/10.1126/science.1091403]
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<span class="mim-text-font">
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Ada Hamosh - updated : 12/05/2014
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Victor A. McKusick : 3/28/2007
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alopez : 12/05/2014<br>carol : 12/4/2014<br>carol : 9/16/2013<br>terry : 2/29/2012<br>terry : 1/27/2012<br>alopez : 3/29/2007
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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