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<title>
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Entry
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- #620792 - OTOSCLEROSIS 12; OTSC12
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- OMIM
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<span class="h4">#620792</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/620792"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS166800"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(OTOSCLEROSIS) OR (SMARCA4)" 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>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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<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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<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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620792
|
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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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OTOSCLEROSIS 12; OTSC12
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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="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/19/287?start=-3&limit=10&highlight=287">
|
|
19p13.2
|
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</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
?Otosclerosis 12
|
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|
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
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</span>
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|
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</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
|
<a href="/entry/620792"> 620792 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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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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SMARCA4
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/603254"> 603254 </a>
|
|
</span>
|
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</td>
|
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/620792" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
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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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|
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<a href="/phenotypicSeries/PS166800" 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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/620792" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/620792" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<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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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> HEAD & NECK </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Ears </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Hearing loss, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842138&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842138</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001730" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001730</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103276001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103276001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15188001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15188001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span><br /> -
|
|
Otosclerosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11543004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11543004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H80</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H80.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H80.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/387.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">387.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">387</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029899&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029899</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000362" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000362</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000362" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000362</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> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Variable age at onset (range, early childhood to seventh decade)<br /> -
|
|
Incomplete penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br /> -
|
|
Based on a report of 1 family (last curated April 2024)<br />
|
|
|
|
</span>
|
|
</div>
|
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|
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</div>
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|
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member-4 gene (SMARCA4, <a href="/entry/603254#0013">603254.0013</a>)<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 class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Otosclerosis
|
|
- <a href="/phenotypicSeries/PS166800">PS166800</a>
|
|
- 10 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/1/1702?start=-3&limit=10&highlight=1702"> 1q41-q44 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615589"> Otosclerosis 10 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615589"> 615589 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615589"> OTSC10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615589"> 615589 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/667?start=-3&limit=10&highlight=667"> 3q22-q24 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608787"> Otosclerosis 5 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608787"> 608787 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608787"> OTSC5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608787"> 608787 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/85?start=-3&limit=10&highlight=85"> 6p22.3-p21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608244"> Otosclerosis 3 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608244"> 608244 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608244"> OTSC3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608244"> 608244 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/628?start=-3&limit=10&highlight=628"> 6q13-q16.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611572"> Otosclerosis 7 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611572"> 611572 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611572"> OTSC7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611572"> 611572 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/723?start=-3&limit=10&highlight=723"> 7q34-q36 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605727"> Otosclerosis 2 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605727"> 605727 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605727"> OTSC2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605727"> 605727 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
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<a href="/entry/612096"> Otosclerosis 8 </a>
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<a href="/entry/603252"> 603252 </a>
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<a href="/entry/620792"> ?Otosclerosis 12 </a>
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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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<a href="/entry/620792"> 620792 </a>
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<a href="/entry/603254"> SMARCA4 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</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 otosclerosis-12 (OTSC12) is caused by heterozygous mutation in the SMARCA4 gene (<a href="/entry/603254">603254</a>) on chromosome 19p13. One such family has been reported.</p>
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<p>Otosclerosis-12 (OTSC12) is characterized by progressive hearing loss resulting from abnormal bone remodeling (summary by <a href="#1" class="mim-tip-reference" title="Drabkin, M., Jean, M. M., Noy, Y., Halperin, D., Yogev, Y., Wormser, O., Proskorovski-Ohayon, R., Dolgin, V., Levaot, N., Brumfeld, V., Ovadia, S., Kishner, M., Kazenell, U., Avraham, K. B., Shelef, I., Birk, O. S. <strong>SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.</strong> J. Med. Genet. 61: 117-124, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37399313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37399313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37399313[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/10.1136/jmg-2023-109264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37399313">Drabkin et al., 2024</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37399313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a general phenotypic description and discussion of genetic heterogeneity of otosclerosis, see OTSC1 (<a href="/entry/166800">166800</a>).</p>
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<p><a href="#1" class="mim-tip-reference" title="Drabkin, M., Jean, M. M., Noy, Y., Halperin, D., Yogev, Y., Wormser, O., Proskorovski-Ohayon, R., Dolgin, V., Levaot, N., Brumfeld, V., Ovadia, S., Kishner, M., Kazenell, U., Avraham, K. B., Shelef, I., Birk, O. S. <strong>SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.</strong> J. Med. Genet. 61: 117-124, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37399313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37399313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37399313[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/10.1136/jmg-2023-109264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37399313">Drabkin et al. (2024)</a> reported 7 members over 2 generations of a family with otosclerosis and mutation in the SMARCA4 gene. The proband (IV:1) was a man with progressive hearing loss beginning in his early thirties, who underwent bilateral stapedectomy with minimal improvement of hearing in his right ear; he used bilateral hearing aids. His mother and maternal grandparents reported normal hearing, although a maternal aunt (III:1) and uncle (III:2) had confirmed otosclerosis, with onset around age 30. The proband's second cousin (IV:2) experienced progressive hearing loss starting in early childhood; cranial CT revealed bilateral otosclerosis. Her father and paternal grandparents were deceased, but had no history of hearing loss. However, 3 paternal uncles had hearing loss, 2 with onset at age 65 (III:5 and III:6), and the third (III:7) with onset of progressive deafness in his late twenties. The authors noted that patients from generation III were not available for clinical evaluation; all information was gathered from family history. The affected individuals with hearing loss who participated in the study were otherwise healthy, with no chronic illnesses or other significant health problems. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37399313" 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>The transmission pattern of OTSC12 in the family reported by <a href="#1" class="mim-tip-reference" title="Drabkin, M., Jean, M. M., Noy, Y., Halperin, D., Yogev, Y., Wormser, O., Proskorovski-Ohayon, R., Dolgin, V., Levaot, N., Brumfeld, V., Ovadia, S., Kishner, M., Kazenell, U., Avraham, K. B., Shelef, I., Birk, O. S. <strong>SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.</strong> J. Med. Genet. 61: 117-124, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37399313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37399313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37399313[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/10.1136/jmg-2023-109264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37399313">Drabkin et al. (2024)</a> was consistent with autosomal dominant inheritance with incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37399313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 6 affected members of a 2-generation family with otosclerosis, <a href="#1" class="mim-tip-reference" title="Drabkin, M., Jean, M. M., Noy, Y., Halperin, D., Yogev, Y., Wormser, O., Proskorovski-Ohayon, R., Dolgin, V., Levaot, N., Brumfeld, V., Ovadia, S., Kishner, M., Kazenell, U., Avraham, K. B., Shelef, I., Birk, O. S. <strong>SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.</strong> J. Med. Genet. 61: 117-124, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37399313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37399313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37399313[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/10.1136/jmg-2023-109264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37399313">Drabkin et al. (2024)</a> identified heterozygosity for a missense mutation in the SMARCA4 gene (E1610K; <a href="/entry/603254#0013">603254.0013</a>). The pedigree showed incomplete penetrance, with obligate carrier parents reporting normal hearing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37399313" 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>Using CRISPR/Cas9, <a href="#1" class="mim-tip-reference" title="Drabkin, M., Jean, M. M., Noy, Y., Halperin, D., Yogev, Y., Wormser, O., Proskorovski-Ohayon, R., Dolgin, V., Levaot, N., Brumfeld, V., Ovadia, S., Kishner, M., Kazenell, U., Avraham, K. B., Shelef, I., Birk, O. S. <strong>SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.</strong> J. Med. Genet. 61: 117-124, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37399313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37399313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37399313[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/10.1136/jmg-2023-109264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37399313">Drabkin et al. (2024)</a> created transgenic mice carrying the human E1610K mutation in the mouse ortholog. Heterozygous mutant mice showed no overt morphologic or behavioral abnormalities compared to their wildtype littermates, and had no gross anatomic anomalies on whole-body X-rays. However, acoustic startle response testing in awake 4-month-old mutant mice revealed hearing impairment, with significantly reduced startle amplitudes at almost all tested stimulus volumes, compared to wildtype mice. Auditory brainstem response testing showed modest but consistently elevated thresholds in the mutant mice, both to pure tone stimuli across all tested frequencies and to broadband (click) stimuli. The authors also studied auditory bullae (the equivalent of the otic capsule in humans) from the mutant mice and observed malformations in the auditory ossicles. Detailed dissection revealed abnormal incus bones, with a malformed lentiform process showing thickening of the distal part of the long crus, as well as a hypoplastic short crus. Micro-CT 3D-reconstructed images of the auditory ossicles confirmed the results, demonstrating a highly irregular structure of the incus bone involving both the incudomalleolar and incudostapedial joints. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37399313" 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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Drabkin, M., Jean, M. M., Noy, Y., Halperin, D., Yogev, Y., Wormser, O., Proskorovski-Ohayon, R., Dolgin, V., Levaot, N., Brumfeld, V., Ovadia, S., Kishner, M., Kazenell, U., Avraham, K. B., Shelef, I., Birk, O. S.
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<strong>SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.</strong>
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J. Med. Genet. 61: 117-124, 2024.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37399313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37399313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37399313[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=37399313" 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/10.1136/jmg-2023-109264" target="_blank">Full Text</a>]
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Marla J. F. O'Neill : 04/18/2024
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alopez : 04/18/2024
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<strong>#</strong> 620792
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OTOSCLEROSIS 12; OTSC12
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Phenotype <br /> mapping key
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19p13.2
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?Otosclerosis 12
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620792
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Autosomal dominant
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3
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SMARCA4
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603254
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<p>A number sign (#) is used with this entry because of evidence that otosclerosis-12 (OTSC12) is caused by heterozygous mutation in the SMARCA4 gene (603254) on chromosome 19p13. One such family has been reported.</p>
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<p>Otosclerosis-12 (OTSC12) is characterized by progressive hearing loss resulting from abnormal bone remodeling (summary by Drabkin et al., 2024). </p><p>For a general phenotypic description and discussion of genetic heterogeneity of otosclerosis, see OTSC1 (166800).</p>
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<p>Drabkin et al. (2024) reported 7 members over 2 generations of a family with otosclerosis and mutation in the SMARCA4 gene. The proband (IV:1) was a man with progressive hearing loss beginning in his early thirties, who underwent bilateral stapedectomy with minimal improvement of hearing in his right ear; he used bilateral hearing aids. His mother and maternal grandparents reported normal hearing, although a maternal aunt (III:1) and uncle (III:2) had confirmed otosclerosis, with onset around age 30. The proband's second cousin (IV:2) experienced progressive hearing loss starting in early childhood; cranial CT revealed bilateral otosclerosis. Her father and paternal grandparents were deceased, but had no history of hearing loss. However, 3 paternal uncles had hearing loss, 2 with onset at age 65 (III:5 and III:6), and the third (III:7) with onset of progressive deafness in his late twenties. The authors noted that patients from generation III were not available for clinical evaluation; all information was gathered from family history. The affected individuals with hearing loss who participated in the study were otherwise healthy, with no chronic illnesses or other significant health problems. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of OTSC12 in the family reported by Drabkin et al. (2024) was consistent with autosomal dominant inheritance with incomplete penetrance. </p>
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<strong>Molecular Genetics</strong>
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<p>In 6 affected members of a 2-generation family with otosclerosis, Drabkin et al. (2024) identified heterozygosity for a missense mutation in the SMARCA4 gene (E1610K; 603254.0013). The pedigree showed incomplete penetrance, with obligate carrier parents reporting normal hearing. </p>
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<span class="mim-text-font">
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<p>Using CRISPR/Cas9, Drabkin et al. (2024) created transgenic mice carrying the human E1610K mutation in the mouse ortholog. Heterozygous mutant mice showed no overt morphologic or behavioral abnormalities compared to their wildtype littermates, and had no gross anatomic anomalies on whole-body X-rays. However, acoustic startle response testing in awake 4-month-old mutant mice revealed hearing impairment, with significantly reduced startle amplitudes at almost all tested stimulus volumes, compared to wildtype mice. Auditory brainstem response testing showed modest but consistently elevated thresholds in the mutant mice, both to pure tone stimuli across all tested frequencies and to broadband (click) stimuli. The authors also studied auditory bullae (the equivalent of the otic capsule in humans) from the mutant mice and observed malformations in the auditory ossicles. Detailed dissection revealed abnormal incus bones, with a malformed lentiform process showing thickening of the distal part of the long crus, as well as a hypoplastic short crus. Micro-CT 3D-reconstructed images of the auditory ossicles confirmed the results, demonstrating a highly irregular structure of the incus bone involving both the incudomalleolar and incudostapedial joints. </p>
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<strong>REFERENCES</strong>
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Drabkin, M., Jean, M. M., Noy, Y., Halperin, D., Yogev, Y., Wormser, O., Proskorovski-Ohayon, R., Dolgin, V., Levaot, N., Brumfeld, V., Ovadia, S., Kishner, M., Kazenell, U., Avraham, K. B., Shelef, I., Birk, O. S.
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<strong>SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.</strong>
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J. Med. Genet. 61: 117-124, 2024.
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[PubMed: 37399313]
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[Full Text: https://doi.org/10.1136/jmg-2023-109264]
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Marla J. F. O'Neill : 04/18/2024
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<span class="mim-text-font">
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alopez : 04/18/2024
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and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
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and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
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medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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