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<title>
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Entry
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- #304400 - DEAFNESS, X-LINKED 2; DFNX2
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- OMIM
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<span class="h4">#304400</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS304500"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#clinicalManagement">Clinical Management</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="#nomenclature">Nomenclature</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(DEAFNESS, X-LINKED) OR (POU3F4)" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=157&Typ=Pat" title="X-linked mixed deafness with perilymphatic gusher" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">X-linked mixed deafness wi… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12050&Typ=Pat" title="Rare mitochondrial non-syndromic sensorineural deafness" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Rare mitochondrial non-syn… </a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1434/" 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/2161" 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=304400[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=383" title="X-linked mixed deafness with perilymphatic gusher" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">X-linked mixed deafness wi…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90641" title="Rare mitochondrial non-syndromic sensorineural deafness" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Rare mitochondrial non-syn…</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111737" 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/304400" 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:0111737" 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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<div class="text-right">
|
|
|
|
|
|
|
|
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
|
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|
|
<strong>ORPHA:</strong> 383, 90641<br />
|
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|
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|
|
<strong>DO:</strong> 0111737<br />
|
|
|
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|
|
">ICD+</a>
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
304400
|
|
</span>
|
|
</span>
|
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</div>
|
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</div>
|
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|
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<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
DEAFNESS, X-LINKED 2; DFNX2
|
|
|
|
</span>
|
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</h3>
|
|
</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION<br />
|
|
DEAFNESS 3, CONDUCTIVE, WITH STAPES FIXATION; DFN3<br />
|
|
PERILYMPHATIC GUSHER-DEAFNESS SYNDROME<br />
|
|
DEAFNESS, MIXED, WITH PERILYMPHATIC GUSHER<br />
|
|
NANCE DEAFNESS<br />
|
|
SENSORINEURAL DEAFNESS, PROFOUND, WITH OR WITHOUT A CONDUCTIVE COMPONENT, ASSOCIATED WITH A UNIQUE DEVELOPMENTAL ABNORMALITY OF THE EAR
|
|
</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 />
|
|
</div>
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</div>
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<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/465?start=-3&limit=10&highlight=465">
|
|
Xq21.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Deafness, X-linked 2
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/304400"> 304400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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">
|
|
POU3F4
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300039"> 300039 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/304400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS304500" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/304400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/304400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
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|
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|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Deafness, profound <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864817</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</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">[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 /> -
|
|
Hearing loss, conductive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44057004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44057004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018777&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018777</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000405" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000405</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000405" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000405</a>]</span><br /> -
|
|
Hearing loss, sensorineural, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843156&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843156</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000408" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000408</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000408" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000408</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span><br /> -
|
|
Wide bulbous internal auditory meatus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551020&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551020</a>]</span><br /> -
|
|
Deficient or absent bone between the lateral end of the meatus and basal turn of the cochlea <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551021&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551021</a>]</span><br /> -
|
|
Abnormal communication between the subarachnoid space in the meatus and the perilymph <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551022&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551022</a>]</span><br /> -
|
|
Stapes fixation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861326&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861326</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000381" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000381</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000381" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000381</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</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">
|
|
|
|
- Leakage of fluid ('gusher') if the stapes is disturbed<br /> -
|
|
Female carriers may have mild hearing impairment<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the POU domain, class 3, transcription factor 4 gene (POU3F4, <a href="/entry/300039#0001">300039.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Deafness, X-linked
|
|
- <a href="/phenotypicSeries/PS304500">PS304500</a>
|
|
- 7 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">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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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/X/111?start=-3&limit=10&highlight=111"> Xp22.12 </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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<a href="/entry/300066"> Deafness, X-linked 4 </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="X-linked dominant">XLD</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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<a href="/entry/300066"> 300066 </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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<a href="/entry/300226"> SMPX </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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<a href="/entry/300226"> 300226 </a>
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</span>
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</td>
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</tr>
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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/X/138?start=-3&limit=10&highlight=138"> Xp21.2 </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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<a href="/entry/300030"> Deafness, X-linked 3 </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="X-linked">XL</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="2 - The disorder was placed on the map by statistical methods"> 2 </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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<a href="/entry/300030"> 300030 </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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<a href="/entry/300030"> DFNX3 </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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<a href="/entry/300030"> 300030 </a>
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</span>
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</td>
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</tr>
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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/X/465?start=-3&limit=10&highlight=465"> Xq21.1 </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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<a href="/entry/304400"> Deafness, X-linked 2 </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="X-linked recessive">XLR</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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<a href="/entry/304400"> 304400 </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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<a href="/entry/300039"> POU3F4 </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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<a href="/entry/300039"> 300039 </a>
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</span>
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</td>
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</tr>
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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/X/517?start=-3&limit=10&highlight=517"> Xq22.1 </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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<a href="/entry/301018"> ?Deafness, X-linked 7 </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="X-linked recessive">XLR</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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<a href="/entry/301018"> 301018 </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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<a href="/entry/300969"> GPRASP2 </a>
|
|
</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/300969"> 300969 </a>
|
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</span>
|
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</td>
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</tr>
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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/X/552?start=-3&limit=10&highlight=552"> Xq22.3 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/304500"> Deafness, X-linked 1 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/304500"> 304500 </a>
|
|
</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/311850"> PRPS1 </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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<a href="/entry/311850"> 311850 </a>
|
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</span>
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</td>
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
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|
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<a href="/geneMap/X/559?start=-3&limit=10&highlight=559"> Xq22.3 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/300914"> ?Deafness, X-linked 6 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300914"> 300914 </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/303631"> COL4A6 </a>
|
|
</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/303631"> 303631 </a>
|
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</span>
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</td>
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</tr>
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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/X/675?start=-3&limit=10&highlight=675"> Xq26.1 </a>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300614"> Deafness, X-linked 5 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</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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<a href="/entry/300614"> 300614 </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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<a href="/entry/300169"> AIFM1 </a>
|
|
</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/300169"> 300169 </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 class="text-right small">
|
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because X-linked deafness-2 (DFNX2), also known as conductive deafness with stapes fixation (DFN3), is caused by mutation in the POU3F4 gene (<a href="/entry/300039">300039</a>) on chromosome Xq21. The disorder can also be caused by deletions, inversions, and duplications upstream of the gene in a putative regulatory element region.</p>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<p>DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery (summary by <a href="#11" class="mim-tip-reference" title="de Kok, Y. J. M., van der Maarel, S. M., Bitner-Glindzicz, M., Huber, I., Monaco, A. P., Malcolm, S., Pembrey, M. E., Ropers, H.-H., Cremers, F. P. M. <strong>Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.</strong> Science 267: 685-688, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7839145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7839145</a>] [<a href="https://doi.org/10.1126/science.7839145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7839145">de Kok et al., 1995</a> and <a href="#29" class="mim-tip-reference" title="Song, M. H., Lee, H. K., Choi, J. Y., Kim, S., Bok, J., Kim, U.-K. <strong>Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA.</strong> Clin. Genet. 78: 524-532, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20412083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20412083</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01426.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20412083">Song et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7839145+20412083" 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>See also choroideremia, deafness, and mental retardation (<a href="/entry/303110">303110</a>), a contiguous gene deletion syndrome involving the POU3F4 and CHM (<a href="/entry/300390">300390</a>) genes on Xq21; isolated choroideremia (<a href="/entry/303100">303100</a>) is caused by mutation in the CHM gene.</p>
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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<p><a href="#28" class="mim-tip-reference" title="Shine, I., Watson, J. R. <strong>A new syndrome of sex-linked congenital conductive deafness. Presentation 132.</strong> Scientific Program, The American Society of Human Genetics: Canada 1967."None>Shine and Watson (1967)</a> described a Hawaiian-Chinese family with 9 males in 2 generations affected with conductive hearing loss and vestibular disturbance. At operation, the footplate of the stapes was found to be fixed. When it was mobilized, profuse drainage of perilymph and cerebrospinal fluid occurred, indicating abnormal patency of the cochlear aqueduct. Nance et al. (<a href="#20" class="mim-tip-reference" title="Nance, W. E., Sweeney, A., McLeod, A. C., Cooper, M. C. <strong>Hereditary deafness: a presentation of some recognized types, modes of inheritance, and aids in counseling.</strong> Sth. Med. Bull. 58: 41-57, 1970."None>1970</a>, <a href="#19" class="mim-tip-reference" title="Nance, W. E., Setleff, R., McLeod, A. C., Sweeney, A., Cooper, M. C., McConnell, F. E. <strong>X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher.</strong> Birth Defects Orig. Art. Ser. VII(4): 64-69, 1971."None>1971</a>) observed a similar family of European extraction, indicating that this is a bona fide syndrome; in this family, hearing loss was of mixed type. The existence of this syndrome had been suggested by <a href="#22" class="mim-tip-reference" title="Olson, N. R., Lehman, R. H. <strong>Cerebrospinal fluid otorrhea and the congenitally fixed stapes.</strong> Laryngoscope 78: 352-359, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5642491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5642491</a>] [<a href="https://doi.org/10.1288/00005537-196803000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5642491">Olson and Lehman (1968)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5642491" 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="#9" class="mim-tip-reference" title="Cremers, C. W. R. J., Huygen, P. L. M. <strong>Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery).</strong> Int. J. Pediat. Otorhinolaryng. 6: 179-185, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6662621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6662621</a>] [<a href="https://doi.org/10.1016/s0165-5876(83)80118-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6662621">Cremers and Huygen (1983)</a> suggested that stapes surgery should not be performed because of the unavoidable complication of a stapes gusher. They reported a pedigree with 9 obligate and 10 possible female carriers of the disorder. Affected males show severe progressive mixed hearing loss and lack or strong reduction of vestibular responses; 4 of the 9 obligate heterozygotes showed similar but much milder audiologic abnormalities and no vestibular abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6662621" 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="#24" class="mim-tip-reference" title="Phelps, P. D., Reardon, W., Pembrey, M., Bellman, S., Luxom, L. <strong>X-linked deafness, stapes gushers and a distinctive defect of the inner ear.</strong> Neuroradiology 33: 326-330, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1922747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1922747</a>] [<a href="https://doi.org/10.1007/BF00587816" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1922747">Phelps et al. (1991)</a> studied 7 pedigrees in which deafness was inherited as an X-linked trait. CT scan showed a distinctive inner ear deformity characterized by a wide bulbous internal auditory meatus and a deficient or absent bone between the lateral end of the meatus and the basal turn of the cochlea. <a href="#24" class="mim-tip-reference" title="Phelps, P. D., Reardon, W., Pembrey, M., Bellman, S., Luxom, L. <strong>X-linked deafness, stapes gushers and a distinctive defect of the inner ear.</strong> Neuroradiology 33: 326-330, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1922747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1922747</a>] [<a href="https://doi.org/10.1007/BF00587816" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1922747">Phelps et al. (1991)</a> concluded that this results in a communication between the subarachnoid space in the internal auditory meatus and the perilymph in the cochlea, leading to perilymphatic hydrops and a 'gusher' if the stapes is disturbed. Some of the obligate female carriers seemed to have a milder form of the same anomaly associated with slight hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1922747" 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 their summary of the features of DFN3, <a href="#11" class="mim-tip-reference" title="de Kok, Y. J. M., van der Maarel, S. M., Bitner-Glindzicz, M., Huber, I., Monaco, A. P., Malcolm, S., Pembrey, M. E., Ropers, H.-H., Cremers, F. P. M. <strong>Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.</strong> Science 267: 685-688, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7839145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7839145</a>] [<a href="https://doi.org/10.1126/science.7839145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7839145">de Kok et al. (1995)</a> pointed out that this mixed type of deafness is characterized by both conductive hearing loss resulting from stapes fixation and progressive sensorineural deafness, and that sometimes a profound sensorineural deafness masks the conductive element. Computerized tomography shows abnormal dilatation of the internal acoustic canal, as well as an abnormally wide communication between the internal acoustic canal and the inner ear compartment. As a result, there is an increased perilymphatic pressure that is thought to underlie the observed 'gusher' during the opening of the stapes footplate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7839145" 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>From the study of 2 families in which the occurrence of DFN3 was well established by the demonstration of specific mutations in the POU3F4 gene (<a href="/entry/300039">300039</a>), <a href="#5" class="mim-tip-reference" title="Bitner-Glindzicz, M., Turnpenny, P., Hoglund, P., Kaariainen, H., Sankila, E.-M., van der Maarel, S. M., de Kok, Y. J. M., Ropers, H.-H., Cremers, F. P. M., Pembrey, M., Malcolm, S. <strong>Further mutations in brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.</strong> Hum. Molec. Genet. 4: 1467-1469, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581392</a>] [<a href="https://doi.org/10.1093/hmg/4.8.1467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581392">Bitner-Glindzicz et al. (1995)</a> concluded that DFN3 should be characterized, not by mixed conductive and sensorineural deafness associated with perilymphatic gusher at stapes surgery, but by profound sensorineural deafness with or without a conductive component associated with a unique developmental abnormality of the ear. Profound sensorineural deafness is, they concluded, the sine qua non of this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7581392" 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="#29" class="mim-tip-reference" title="Song, M. H., Lee, H. K., Choi, J. Y., Kim, S., Bok, J., Kim, U.-K. <strong>Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA.</strong> Clin. Genet. 78: 524-532, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20412083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20412083</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01426.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20412083">Song et al. (2010)</a> reported a 9-year-old Korean boy who was first diagnosed with hearing loss at age 6 years. Initial audiogram showed a mixed type of moderately severe hearing loss on the right side and severe hearing loss on the left side, which did not progress over 3 years. He had good language development after speech therapy. High-resolution CT scan showed a wide fistulous connection between the basal cochlear turn and the inner auditory canal, consistent with DFN3. There was no family history of a similar disorder. Genetic analysis identified a 1- to 1.5-Mb deletion located about 90 kb upstream of the POU3F4 gene, and no mutation within the coding exon of the POU3F4 gene. The deletion was not found in his mother or sister, suggesting a sporadic occurrence. <a href="#29" class="mim-tip-reference" title="Song, M. H., Lee, H. K., Choi, J. Y., Kim, S., Bok, J., Kim, U.-K. <strong>Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA.</strong> Clin. Genet. 78: 524-532, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20412083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20412083</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01426.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20412083">Song et al. (2010)</a> noted that the lack of mutation in the coding sequence made the detection of carrier females difficult; the authors used multiplex ligation-dependent probe analysis for molecular analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20412083" 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="#15" class="mim-tip-reference" title="Lee, H.-K., Lee, S.-H., Lee, K.-Y., Lim, E.-J., Choi, S.-Y., Park, R.-K., Kim, U.-K. <strong>Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants. (Letter)</strong> Clin. Genet. 75: 572-575, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19438930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19438930</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01181.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19438930">Lee et al. (2009)</a> reported successful treatment of 3 Korean boys, including 2 brothers, with DFN3 using cochlear implants. Pure tone audiometry (PTA) in the 2 brothers improved from 87.5 to 97.5 dB before implantation to 26.3 to 31.3 dB after implantation. Speech performance also improved significantly. The third boy, who also had mental retardation, showed improved PTA from no response to 36.3 dB. All 3 patients had truncating mutations in the POU3F4 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19438930" 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 a large Dutch kindred, <a href="#6" class="mim-tip-reference" title="Brunner, H. G., van Bennekom, C. A., Lambermon, E. M. M., Oei, T. L., Cremers, C. W. R. J., Wieringa, B., Ropers, H.-H. <strong>The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.</strong> Hum. Genet. 80: 337-340, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2904400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2904400</a>] [<a href="https://doi.org/10.1007/BF00273647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2904400">Brunner et al. (1988)</a> found tight linkage (maximum lod = 3.07 at theta = 0.00) with PGK (<a href="/entry/311800">311800</a>), which is located at Xq13. <a href="#6" class="mim-tip-reference" title="Brunner, H. G., van Bennekom, C. A., Lambermon, E. M. M., Oei, T. L., Cremers, C. W. R. J., Wieringa, B., Ropers, H.-H. <strong>The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.</strong> Hum. Genet. 80: 337-340, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2904400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2904400</a>] [<a href="https://doi.org/10.1007/BF00273647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2904400">Brunner et al. (1988)</a> pointed out that deafness is one of the predominant clinical features in males with deletions of Xq21 (<a href="#1" class="mim-tip-reference" title="Ayazi, S. <strong>Choroideremia, obesity and congenital deafness.</strong> Am. J. Ophthal. 92: 63-69, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7258279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7258279</a>] [<a href="https://doi.org/10.1016/s0002-9394(14)75909-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7258279">Ayazi, 1981</a>; <a href="#21" class="mim-tip-reference" title="Nussbaum, R. L., Lesko, J. G., Lewis, R. A., Ledbetter, S. A., Ledbetter, D. A. <strong>Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness and mental retardation.</strong> Proc. Nat. Acad. Sci. 84: 6521-6525, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3476958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3476958</a>] [<a href="https://doi.org/10.1073/pnas.84.18.6521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3476958">Nussbaum et al., 1987</a>; <a href="#27" class="mim-tip-reference" title="Rosenberg, T., Niebuhr, E., Yang, H. M., Parving, A., Schwartz, M. <strong>Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion.</strong> Ophthalmic Paediat. Genet. 8: 139-143, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3438052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3438052</a>] [<a href="https://doi.org/10.3109/13816818709031459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3438052">Rosenberg et al., 1987</a>). <a href="#4" class="mim-tip-reference" title="Ballo, R., Wallis, C., Wallis, G., Goldblatt, J., Beighton, P. <strong>Linkage between X-linked deafness with stapes fixation and a cloned DNA sequence on the long arm of the X-chromosome. (Abstract)</strong> Clinical Genetics Society, Aberdeen, Scotland, September 1988."None>Ballo et al. (1988)</a> and <a href="#31" class="mim-tip-reference" title="Wallis, C., Ballo, R., Wallis, G., Beighton, P., Goldblatt, J. <strong>X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.</strong> Genomics 3: 299-301, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3243543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3243543</a>] [<a href="https://doi.org/10.1016/0888-7543(88)90119-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3243543">Wallis et al. (1988)</a> showed tight linkage to DXYS1 (lod = 6.32 at theta = 0.0), thus placing DFN3 at Xq13-q21.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2904400+3243543+7258279+3476958+3438052" 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="#17" class="mim-tip-reference" title="Merry, D. E., Lesko, J. G., Sosnoski, D. M., Lewis, R. A., Lubinsky, M., Trask, B., van den Engh, G., Collins, F. S., Nussbaum, R. L. <strong>Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.</strong> Am. J. Hum. Genet. 45: 530-540, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2491012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2491012</a>]" pmid="2491012">Merry et al. (1989)</a> studied 2 patients with X-chromosome deletions who had both choroideremia and deafness with stapes fixation. In both cases, 2 members of the family were affected: 2 first cousins in 1 kindred, and 2 brothers in the second. The smaller of the deletions, which was not detectable cytogenetically, was estimated to represent 3.3% of the X chromosome by dual laser flow cytometry. Assuming that the X chromosome represents about 6% of the human haploid genome, which has about 3 billion basepairs, then the 2 loci should be within 6 megabases of each other. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2491012" 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="#25" class="mim-tip-reference" title="Reardon, W., Middleton-Price, H. R., Sandkuijl, L., Phelps, P., Bellman, S., Luxon, L., Pembrey, M. E., Malcolm, S. <strong>A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity.</strong> Genomics 11: 885-894, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1783396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1783396</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90011-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1783396">Reardon et al. (1991)</a> reported a family with nonsyndromic X-linked deafness which was not linked to markers in the Xq13-q21 region; in 6 other families they confirmed the location for X-linked deafness to that region, with maximum lod = 15 at theta = 0.0, using the probe PXG7 (DXS72). As a further suggestion of heterogeneity, they pointed to the fact that the phenotype of the deafness in individuals with a deletion in the Xq13-q21 region is variable. They also pointed out that their unlinked family lacked the findings in the temporal bone on CT scan described by <a href="#24" class="mim-tip-reference" title="Phelps, P. D., Reardon, W., Pembrey, M., Bellman, S., Luxom, L. <strong>X-linked deafness, stapes gushers and a distinctive defect of the inner ear.</strong> Neuroradiology 33: 326-330, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1922747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1922747</a>] [<a href="https://doi.org/10.1007/BF00587816" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1922747">Phelps et al. (1991)</a> as typical of the gusher-deafness syndrome. Using probe pHU16, which defines the anonymous DNA site DXS26, <a href="#2" class="mim-tip-reference" title="Bach, I., Brunner, H. G., Beighton, P., Ruvalcaba, R. H. A., Reardon, W., Pembrey, M. E., van der Velde-Visser, S. D., Bruns, G. A. P., Cremers, C. W. R. J., Cremers, F. P. M., Ropers, H.-H. <strong>Microdeletions in patients with Gusher-associated, X-linked mixed deafness (DFN3).</strong> Am. J. Hum. Genet. 51: 38-44, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1609803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1609803</a>]" pmid="1609803">Bach et al. (1992)</a> found microdeletion in 2 of 13 unrelated male probands with this disorder. One of the deletions also encompassed locus DXS169, indicating that it extends farther toward the centromere. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1922747+1783396+1609803" 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="#26" class="mim-tip-reference" title="Robinson, D., Lamont, M., Curtis, G., Shields, D. C., Phelps, P. <strong>A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome.</strong> Hum. Genet. 90: 316-318, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1362559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1362559</a>] [<a href="https://doi.org/10.1007/BF00220090" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1362559">Robinson et al. (1992)</a>, like <a href="#25" class="mim-tip-reference" title="Reardon, W., Middleton-Price, H. R., Sandkuijl, L., Phelps, P., Bellman, S., Luxon, L., Pembrey, M. E., Malcolm, S. <strong>A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity.</strong> Genomics 11: 885-894, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1783396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1783396</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90011-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1783396">Reardon et al. (1991)</a>, found close linkage between X-linked deafness and DXS159 in Xq12, with a lod score of 3.155 at zero recombination. An affected male showed gross dilatation of the internal auditory meatus bilaterally with very poor separation from the basal cochlear turns, as described by <a href="#24" class="mim-tip-reference" title="Phelps, P. D., Reardon, W., Pembrey, M., Bellman, S., Luxom, L. <strong>X-linked deafness, stapes gushers and a distinctive defect of the inner ear.</strong> Neuroradiology 33: 326-330, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1922747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1922747</a>] [<a href="https://doi.org/10.1007/BF00587816" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1922747">Phelps et al. (1991)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1922747+1783396+1362559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study of several overlapping deletions involving different parts of Xq21 with DNA probes, <a href="#3" class="mim-tip-reference" title="Bach, I., Robinson, D., Thomas, N., Ropers, H.-H., Cremers, F. P. M. <strong>Physical fine mapping of genes underlying X-linked deafness and non fra(X)-X-linked mental retardation at Xq21.</strong> Hum. Genet. 89: 620-624, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1511979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1511979</a>] [<a href="https://doi.org/10.1007/BF00221950" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1511979">Bach et al. (1992)</a> assigned the DFN3 locus and a locus for nonspecific X-linked mental retardation(see <a href="/entry/303110">303110</a>) to an interval that encompasses the locus DXS232 and that is flanked by DXS26 and DXS121. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1511979" 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="#14" class="mim-tip-reference" title="Huber, I., Bitner-Glindzicz, M., de Kok, Y. J. M., van der Maarel, S. M., Ishikawa-Brush, Y., Monaco, A. P., Robinson, D., Malcolm, S., Pembrey, M. E., Brunner, H. G., Cremers, F. P. M., Ropers, H.-H. <strong>X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.</strong> Hum. Molec. Genet. 3: 1151-1154, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7981685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7981685</a>] [<a href="https://doi.org/10.1093/hmg/3.7.1151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7981685">Huber et al. (1994)</a> found that the microsatellite marker DXS995 mapped to all previously described deletions that had been found in association with X-linked mixed deafness with or without choroideremia and mental retardation. Employing this marker and also DXS26, they identified 2 partially overlapping YAC clones that were used to construct a complete 850-kb cosmid contig. Cosmids from this contig were tested by Southern blot analysis on DNA from 16 unrelated males with X-linked deafness. Two novel microdeletions were detected in patients with the characteristic DFN3 phenotype. Both deletions were contained completely within 1 of the known DFN3 deletions, but 1 of them did not overlap with 2 previously described deletions in patients with contiguous gene syndromes consisting of DFN3, choroideremia, and mental retardation. Assuming that only a single gene is involved, this suggested that the DFN3 gene spans a chromosomal region of at least 400 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7981685" 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="#13" class="mim-tip-reference" title="Hildebrand, M. S., de Silva, M. G., Tan, T. Y., Rose, E., Nishimura, C., Tolmachova, T., Hulett, J. M., White, S. M., Silver, J., Bahlo, M., Smith, R. J. H., Dahl, H.-H. M. <strong>Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.</strong> Am. J. Med. Genet. 143A: 2564-2575, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17935254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17935254</a>] [<a href="https://doi.org/10.1002/ajmg.a.31995" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17935254">Hildebrand et al. (2007)</a> reported a family with X-linked sensorineural deafness and nonsyndromic mental retardation associated with an approximate 200-kb microdeletion upstream of the POU3F4 gene, predicted to affect a regulatory region controlling POU3F4 expression. The microdeletion was believed to cause deafness, consistent with DFNX2, but not likely to have caused mental retardation. <a href="#13" class="mim-tip-reference" title="Hildebrand, M. S., de Silva, M. G., Tan, T. Y., Rose, E., Nishimura, C., Tolmachova, T., Hulett, J. M., White, S. M., Silver, J., Bahlo, M., Smith, R. J. H., Dahl, H.-H. M. <strong>Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.</strong> Am. J. Med. Genet. 143A: 2564-2575, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17935254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17935254</a>] [<a href="https://doi.org/10.1002/ajmg.a.31995" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17935254">Hildebrand et al. (2007)</a> noted that several candidate XLMR genes are located within the deleted region and may have contributed to mental retardation. Affected individuals lacked other prominent clinical features, such as visual impairment, aggressive behavior, or skeletal anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17935254" 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="#11" class="mim-tip-reference" title="de Kok, Y. J. M., van der Maarel, S. M., Bitner-Glindzicz, M., Huber, I., Monaco, A. P., Malcolm, S., Pembrey, M. E., Ropers, H.-H., Cremers, F. P. M. <strong>Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.</strong> Science 267: 685-688, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7839145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7839145</a>] [<a href="https://doi.org/10.1126/science.7839145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7839145">De Kok et al. (1995)</a> used the candidate gene approach to demonstrate that the defect in DFN3 resides in a transcription factor with a POU domain known as brain-4 (POU3F4; <a href="/entry/300039">300039</a>). In 4 patients with X-linked mixed deafness, <a href="#11" class="mim-tip-reference" title="de Kok, Y. J. M., van der Maarel, S. M., Bitner-Glindzicz, M., Huber, I., Monaco, A. P., Malcolm, S., Pembrey, M. E., Ropers, H.-H., Cremers, F. P. M. <strong>Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.</strong> Science 267: 685-688, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7839145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7839145</a>] [<a href="https://doi.org/10.1126/science.7839145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7839145">de Kok et al. (1995)</a> demonstrated 2 missense mutations and 2 nonsense mutations, and in a fifth patient, classified as sensorineural deafness, a nonsense mutation was found (<a href="/entry/300039#0001">300039.0001</a>-<a href="/entry/300039#0005">300039.0005</a>). In addition, <a href="#11" class="mim-tip-reference" title="de Kok, Y. J. M., van der Maarel, S. M., Bitner-Glindzicz, M., Huber, I., Monaco, A. P., Malcolm, S., Pembrey, M. E., Ropers, H.-H., Cremers, F. P. M. <strong>Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.</strong> Science 267: 685-688, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7839145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7839145</a>] [<a href="https://doi.org/10.1126/science.7839145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7839145">de Kok et al. (1995)</a> found that 3 Xq21 microdeletions and 1 duplication that had been identified previously (<a href="#14" class="mim-tip-reference" title="Huber, I., Bitner-Glindzicz, M., de Kok, Y. J. M., van der Maarel, S. M., Ishikawa-Brush, Y., Monaco, A. P., Robinson, D., Malcolm, S., Pembrey, M. E., Brunner, H. G., Cremers, F. P. M., Ropers, H.-H. <strong>X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.</strong> Hum. Molec. Genet. 3: 1151-1154, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7981685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7981685</a>] [<a href="https://doi.org/10.1093/hmg/3.7.1151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7981685">Huber et al., 1994</a>) in patients with DFN3 did not encompass the POU3F4 gene. In all 4 instances, the rearrangement was located proximal and 5-prime to POU3F4, with physical distances varying between 15 and 400 kb. In none of these patients, nor in 2 others with either a perilymphatic gusher during stapes surgery or a temporal bone defect, were point mutations detected within the POU3F4 gene. <a href="#11" class="mim-tip-reference" title="de Kok, Y. J. M., van der Maarel, S. M., Bitner-Glindzicz, M., Huber, I., Monaco, A. P., Malcolm, S., Pembrey, M. E., Ropers, H.-H., Cremers, F. P. M. <strong>Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.</strong> Science 267: 685-688, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7839145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7839145</a>] [<a href="https://doi.org/10.1126/science.7839145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7839145">De Kok et al. (1995)</a> concluded that these cases may be caused by mutations that affect 5-prime noncoding or regulatory sequences. Alternatively, these aberrations may affect the gross chromosomal structure and thus affect expression of POU3F4. A less likely explanation might be the presence of other genes in Xq21.1 that can cause DFN3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7839145+7981685" 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>From observations of DFN3 in association with a complex duplication/paracentric inversion, <a href="#10" class="mim-tip-reference" title="de Kok, Y. J. M., Merkx, G. F. M., van der Maarel, S. M., Huber, I., Malcolm, S., Ropers, H.-H., Cremers, F. P. M. <strong>A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene.</strong> Hum. Molec. Genet. 4: 2145-2150, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8589693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8589693</a>] [<a href="https://doi.org/10.1093/hmg/4.11.2145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8589693">de Kok et al. (1995)</a> concluded that there is a regulatory element located at least 400 kb upstream of the POU3F4 gene and that this was disconnected from the POU3F4 gene by the inversion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8589693" 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="#23" class="mim-tip-reference" title="Petersen, M. B., Wang, Q., Willems, P. J. <strong>Sex-linked deafness.</strong> Clin. Genet. 73: 14-23, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18005182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18005182</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00913.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18005182">Petersen et al. (2008)</a> proposed the designation DFNX2 for this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18005182" 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="#18" class="mim-tip-reference" title="Minowa, O., Ikeda, K., Sugitani, Y., Oshima, T., Nakai, S., Katori, Y., Suzuki, M., Furukawa, M., Kawase, T., Zheng, Y., Ogura, M., Asada, Y., Watanabe, K., Yamanaka, H., Gotoh, S., Nishi-Takeshima, M., Sugimoto, T., Kikuchi, T., Takasaka, T., Noda, T. <strong>Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness.</strong> Science 285: 1408-1411, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10464101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10464101</a>] [<a href="https://doi.org/10.1126/science.285.5432.1408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10464101">Minowa et al. (1999)</a> created Brn4 (Pou3f4)-deficient mice. They had profound deafness. No gross morphologic changes were observed in the conductive ossicles or cochlea, although there was a dramatic reduction in endocochlear potential. Electron microscopy revealed severe ultrastructural alterations in cochlear spiral ligament fibrocytes. These findings suggested that these fibrocytes, which are mesenchymal in origin and for which a role in potassium ion homeostasis has been postulated, may play a critical role in auditory function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10464101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Cremers1985" class="mim-tip-reference" title="Cremers, C. W. R. J., Hombergen, G. C. H. J., Scaf, J. J., Huygen, P. L. M., Volkers, W. S., Pinckers, A. J. L. G. <strong>X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery.</strong> Arch. Otolaryng. 111: 249-254, 1985.">Cremers (1985)</a>; <a href="#Cremers1985" class="mim-tip-reference" title="Cremers, C. W. R. J., Hombergen, G. C. H. J., Scaf, J. J., Huygen, P. L. M., Volkers, W. S., Pinckers, A. J. L. G. <strong>X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery.</strong> Arch. Otolaryng. 111: 249-254, 1985.">Cremers et al. (1985)</a>; <a href="#Fraser1965" class="mim-tip-reference" title="Fraser, G. R. <strong>Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness.</strong> Ann. Hum. Genet. 29: 171-196, 1965.">Fraser (1965)</a>; <a href="#McRae1969" class="mim-tip-reference" title="McRae, K. N., Uchida, I. A., Lewis, M. <strong>Sex-linked congenital deafness.</strong> Am. J. Hum. Genet. 21: 415-419, 1969.">McRae et al.
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(1969)</a>; <a href="#Thorpe1974" class="mim-tip-reference" title="Thorpe, P., Sellars, S. L., Beighton, P. <strong>X-linked deafness in a South African kindred.</strong> S. Afr. Med. J. 48: 587-590, 1974.">Thorpe et al. (1974)</a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10464101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10464101</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10464101" 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.285.5432.1408" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
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<a id="Nance1971" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nance, W. E., Setleff, R., McLeod, A. C., Sweeney, A., Cooper, M. C., McConnell, F. E.
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<strong>X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher.</strong>
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Birth Defects Orig. Art. Ser. VII(4): 64-69, 1971.
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<a id="Nance1970" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nance, W. E., Sweeney, A., McLeod, A. C., Cooper, M. C.
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<strong>Hereditary deafness: a presentation of some recognized types, modes of inheritance, and aids in counseling.</strong>
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Sth. Med. Bull. 58: 41-57, 1970.
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<a id="21" class="mim-anchor"></a>
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<a id="Nussbaum1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nussbaum, R. L., Lesko, J. G., Lewis, R. A., Ledbetter, S. A., Ledbetter, D. A.
|
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<strong>Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness and mental retardation.</strong>
|
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Proc. Nat. Acad. Sci. 84: 6521-6525, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3476958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3476958</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3476958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.84.18.6521" target="_blank">Full Text</a>]
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<a id="22" class="mim-anchor"></a>
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<a id="Olson1968" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Olson, N. R., Lehman, R. H.
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<strong>Cerebrospinal fluid otorrhea and the congenitally fixed stapes.</strong>
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Laryngoscope 78: 352-359, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5642491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5642491</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5642491" 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/10.1288/00005537-196803000-00006" target="_blank">Full Text</a>]
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<a id="23" class="mim-anchor"></a>
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<a id="Petersen2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Petersen, M. B., Wang, Q., Willems, P. J.
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<strong>Sex-linked deafness.</strong>
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Clin. Genet. 73: 14-23, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18005182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18005182</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18005182" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2007.00913.x" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
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<a id="Phelps1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Phelps, P. D., Reardon, W., Pembrey, M., Bellman, S., Luxom, L.
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<strong>X-linked deafness, stapes gushers and a distinctive defect of the inner ear.</strong>
|
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Neuroradiology 33: 326-330, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1922747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1922747</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1922747" 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/10.1007/BF00587816" target="_blank">Full Text</a>]
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<a id="25" class="mim-anchor"></a>
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<a id="Reardon1991" class="mim-anchor"></a>
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Reardon, W., Middleton-Price, H. R., Sandkuijl, L., Phelps, P., Bellman, S., Luxon, L., Pembrey, M. E., Malcolm, S.
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<strong>A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity.</strong>
|
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Genomics 11: 885-894, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1783396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1783396</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1783396" 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/10.1016/0888-7543(91)90011-3" target="_blank">Full Text</a>]
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<a id="26" class="mim-anchor"></a>
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<a id="Robinson1992" class="mim-anchor"></a>
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<p class="mim-text-font">
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Robinson, D., Lamont, M., Curtis, G., Shields, D. C., Phelps, P.
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<strong>A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome.</strong>
|
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Hum. Genet. 90: 316-318, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1362559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1362559</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1362559" 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/10.1007/BF00220090" target="_blank">Full Text</a>]
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<a id="27" class="mim-anchor"></a>
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<a id="Rosenberg1987" class="mim-anchor"></a>
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<p class="mim-text-font">
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Rosenberg, T., Niebuhr, E., Yang, H. M., Parving, A., Schwartz, M.
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<strong>Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion.</strong>
|
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Ophthalmic Paediat. Genet. 8: 139-143, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3438052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3438052</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3438052" 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/10.3109/13816818709031459" target="_blank">Full Text</a>]
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<a id="Shine1967" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shine, I., Watson, J. R.
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<strong>A new syndrome of sex-linked congenital conductive deafness. Presentation 132.</strong>
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Scientific Program, The American Society of Human Genetics: Canada 1967.
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<a id="29" class="mim-anchor"></a>
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<a id="Song2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Song, M. H., Lee, H. K., Choi, J. Y., Kim, S., Bok, J., Kim, U.-K.
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<strong>Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA.</strong>
|
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Clin. Genet. 78: 524-532, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20412083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20412083</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20412083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2010.01426.x" target="_blank">Full Text</a>]
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<a id="30" class="mim-anchor"></a>
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<a id="Thorpe1974" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thorpe, P., Sellars, S. L., Beighton, P.
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<strong>X-linked deafness in a South African kindred.</strong>
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S. Afr. Med. J. 48: 587-590, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4821674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4821674</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4821674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Wallis1988" class="mim-anchor"></a>
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Wallis, C., Ballo, R., Wallis, G., Beighton, P., Goldblatt, J.
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<strong>X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.</strong>
|
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Genomics 3: 299-301, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3243543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3243543</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3243543" 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/10.1016/0888-7543(88)90119-x" 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 class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/16/2012
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/28/2010<br>Cassandra L. Kniffin - updated : 3/5/2009<br>Ada Hamosh - updated : 4/18/2001
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 10/17/2016
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<span class="mim-text-font">
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ckniffin : 07/19/2016<br>carol : 12/9/2015<br>carol : 5/17/2012<br>ckniffin : 5/16/2012<br>carol : 10/13/2010<br>terry : 10/13/2010<br>wwang : 6/4/2010<br>ckniffin : 5/28/2010<br>wwang : 3/11/2009<br>ckniffin : 3/5/2009<br>wwang : 3/18/2008<br>ckniffin : 3/17/2008<br>alopez : 11/10/2003<br>carol : 9/9/2003<br>ckniffin : 8/28/2002<br>alopez : 4/19/2001<br>alopez : 4/19/2001<br>terry : 4/18/2001<br>mark : 3/14/1996<br>mark : 9/7/1995<br>carol : 2/21/1995<br>terry : 1/31/1995<br>jason : 7/19/1994<br>pfoster : 3/25/1994<br>warfield : 3/11/1994
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<span class="mim-font">
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<strong>#</strong> 304400
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<h3>
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DEAFNESS, X-LINKED 2; DFNX2
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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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DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION<br />
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DEAFNESS 3, CONDUCTIVE, WITH STAPES FIXATION; DFN3<br />
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PERILYMPHATIC GUSHER-DEAFNESS SYNDROME<br />
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DEAFNESS, MIXED, WITH PERILYMPHATIC GUSHER<br />
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NANCE DEAFNESS<br />
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SENSORINEURAL DEAFNESS, PROFOUND, WITH OR WITHOUT A CONDUCTIVE COMPONENT, ASSOCIATED WITH A UNIQUE DEVELOPMENTAL ABNORMALITY OF THE EAR
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</span>
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</h4>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 383, 90641;
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<strong>DO:</strong> 0111737;
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</span>
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</p>
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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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<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 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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Xq21.1
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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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Deafness, X-linked 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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304400
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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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X-linked recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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POU3F4
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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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300039
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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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<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>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 X-linked deafness-2 (DFNX2), also known as conductive deafness with stapes fixation (DFN3), is caused by mutation in the POU3F4 gene (300039) on chromosome Xq21. The disorder can also be caused by deletions, inversions, and duplications upstream of the gene in a putative regulatory element region.</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>Description</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>DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery (summary by de Kok et al., 1995 and Song et al., 2010). </p><p>See also choroideremia, deafness, and mental retardation (303110), a contiguous gene deletion syndrome involving the POU3F4 and CHM (300390) genes on Xq21; isolated choroideremia (303100) is caused by mutation in the CHM gene.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Shine and Watson (1967) described a Hawaiian-Chinese family with 9 males in 2 generations affected with conductive hearing loss and vestibular disturbance. At operation, the footplate of the stapes was found to be fixed. When it was mobilized, profuse drainage of perilymph and cerebrospinal fluid occurred, indicating abnormal patency of the cochlear aqueduct. Nance et al. (1970, 1971) observed a similar family of European extraction, indicating that this is a bona fide syndrome; in this family, hearing loss was of mixed type. The existence of this syndrome had been suggested by Olson and Lehman (1968). </p><p>Cremers and Huygen (1983) suggested that stapes surgery should not be performed because of the unavoidable complication of a stapes gusher. They reported a pedigree with 9 obligate and 10 possible female carriers of the disorder. Affected males show severe progressive mixed hearing loss and lack or strong reduction of vestibular responses; 4 of the 9 obligate heterozygotes showed similar but much milder audiologic abnormalities and no vestibular abnormalities. </p><p>Phelps et al. (1991) studied 7 pedigrees in which deafness was inherited as an X-linked trait. CT scan showed a distinctive inner ear deformity characterized by a wide bulbous internal auditory meatus and a deficient or absent bone between the lateral end of the meatus and the basal turn of the cochlea. Phelps et al. (1991) concluded that this results in a communication between the subarachnoid space in the internal auditory meatus and the perilymph in the cochlea, leading to perilymphatic hydrops and a 'gusher' if the stapes is disturbed. Some of the obligate female carriers seemed to have a milder form of the same anomaly associated with slight hearing loss. </p><p>In their summary of the features of DFN3, de Kok et al. (1995) pointed out that this mixed type of deafness is characterized by both conductive hearing loss resulting from stapes fixation and progressive sensorineural deafness, and that sometimes a profound sensorineural deafness masks the conductive element. Computerized tomography shows abnormal dilatation of the internal acoustic canal, as well as an abnormally wide communication between the internal acoustic canal and the inner ear compartment. As a result, there is an increased perilymphatic pressure that is thought to underlie the observed 'gusher' during the opening of the stapes footplate. </p><p>From the study of 2 families in which the occurrence of DFN3 was well established by the demonstration of specific mutations in the POU3F4 gene (300039), Bitner-Glindzicz et al. (1995) concluded that DFN3 should be characterized, not by mixed conductive and sensorineural deafness associated with perilymphatic gusher at stapes surgery, but by profound sensorineural deafness with or without a conductive component associated with a unique developmental abnormality of the ear. Profound sensorineural deafness is, they concluded, the sine qua non of this disorder. </p><p>Song et al. (2010) reported a 9-year-old Korean boy who was first diagnosed with hearing loss at age 6 years. Initial audiogram showed a mixed type of moderately severe hearing loss on the right side and severe hearing loss on the left side, which did not progress over 3 years. He had good language development after speech therapy. High-resolution CT scan showed a wide fistulous connection between the basal cochlear turn and the inner auditory canal, consistent with DFN3. There was no family history of a similar disorder. Genetic analysis identified a 1- to 1.5-Mb deletion located about 90 kb upstream of the POU3F4 gene, and no mutation within the coding exon of the POU3F4 gene. The deletion was not found in his mother or sister, suggesting a sporadic occurrence. Song et al. (2010) noted that the lack of mutation in the coding sequence made the detection of carrier females difficult; the authors used multiplex ligation-dependent probe analysis for molecular analysis. </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>Clinical Management</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>Lee et al. (2009) reported successful treatment of 3 Korean boys, including 2 brothers, with DFN3 using cochlear implants. Pure tone audiometry (PTA) in the 2 brothers improved from 87.5 to 97.5 dB before implantation to 26.3 to 31.3 dB after implantation. Speech performance also improved significantly. The third boy, who also had mental retardation, showed improved PTA from no response to 36.3 dB. All 3 patients had truncating mutations in the POU3F4 gene. </p>
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</span>
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<div>
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<br />
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</div>
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<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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</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>In a large Dutch kindred, Brunner et al. (1988) found tight linkage (maximum lod = 3.07 at theta = 0.00) with PGK (311800), which is located at Xq13. Brunner et al. (1988) pointed out that deafness is one of the predominant clinical features in males with deletions of Xq21 (Ayazi, 1981; Nussbaum et al., 1987; Rosenberg et al., 1987). Ballo et al. (1988) and Wallis et al. (1988) showed tight linkage to DXYS1 (lod = 6.32 at theta = 0.0), thus placing DFN3 at Xq13-q21.1. </p><p>Merry et al. (1989) studied 2 patients with X-chromosome deletions who had both choroideremia and deafness with stapes fixation. In both cases, 2 members of the family were affected: 2 first cousins in 1 kindred, and 2 brothers in the second. The smaller of the deletions, which was not detectable cytogenetically, was estimated to represent 3.3% of the X chromosome by dual laser flow cytometry. Assuming that the X chromosome represents about 6% of the human haploid genome, which has about 3 billion basepairs, then the 2 loci should be within 6 megabases of each other. </p><p>Reardon et al. (1991) reported a family with nonsyndromic X-linked deafness which was not linked to markers in the Xq13-q21 region; in 6 other families they confirmed the location for X-linked deafness to that region, with maximum lod = 15 at theta = 0.0, using the probe PXG7 (DXS72). As a further suggestion of heterogeneity, they pointed to the fact that the phenotype of the deafness in individuals with a deletion in the Xq13-q21 region is variable. They also pointed out that their unlinked family lacked the findings in the temporal bone on CT scan described by Phelps et al. (1991) as typical of the gusher-deafness syndrome. Using probe pHU16, which defines the anonymous DNA site DXS26, Bach et al. (1992) found microdeletion in 2 of 13 unrelated male probands with this disorder. One of the deletions also encompassed locus DXS169, indicating that it extends farther toward the centromere. </p><p>Robinson et al. (1992), like Reardon et al. (1991), found close linkage between X-linked deafness and DXS159 in Xq12, with a lod score of 3.155 at zero recombination. An affected male showed gross dilatation of the internal auditory meatus bilaterally with very poor separation from the basal cochlear turns, as described by Phelps et al. (1991). </p><p>In a study of several overlapping deletions involving different parts of Xq21 with DNA probes, Bach et al. (1992) assigned the DFN3 locus and a locus for nonspecific X-linked mental retardation(see 303110) to an interval that encompasses the locus DXS232 and that is flanked by DXS26 and DXS121. </p><p>Huber et al. (1994) found that the microsatellite marker DXS995 mapped to all previously described deletions that had been found in association with X-linked mixed deafness with or without choroideremia and mental retardation. Employing this marker and also DXS26, they identified 2 partially overlapping YAC clones that were used to construct a complete 850-kb cosmid contig. Cosmids from this contig were tested by Southern blot analysis on DNA from 16 unrelated males with X-linked deafness. Two novel microdeletions were detected in patients with the characteristic DFN3 phenotype. Both deletions were contained completely within 1 of the known DFN3 deletions, but 1 of them did not overlap with 2 previously described deletions in patients with contiguous gene syndromes consisting of DFN3, choroideremia, and mental retardation. Assuming that only a single gene is involved, this suggested that the DFN3 gene spans a chromosomal region of at least 400 kb. </p><p>Hildebrand et al. (2007) reported a family with X-linked sensorineural deafness and nonsyndromic mental retardation associated with an approximate 200-kb microdeletion upstream of the POU3F4 gene, predicted to affect a regulatory region controlling POU3F4 expression. The microdeletion was believed to cause deafness, consistent with DFNX2, but not likely to have caused mental retardation. Hildebrand et al. (2007) noted that several candidate XLMR genes are located within the deleted region and may have contributed to mental retardation. Affected individuals lacked other prominent clinical features, such as visual impairment, aggressive behavior, or skeletal anomalies. </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>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>De Kok et al. (1995) used the candidate gene approach to demonstrate that the defect in DFN3 resides in a transcription factor with a POU domain known as brain-4 (POU3F4; 300039). In 4 patients with X-linked mixed deafness, de Kok et al. (1995) demonstrated 2 missense mutations and 2 nonsense mutations, and in a fifth patient, classified as sensorineural deafness, a nonsense mutation was found (300039.0001-300039.0005). In addition, de Kok et al. (1995) found that 3 Xq21 microdeletions and 1 duplication that had been identified previously (Huber et al., 1994) in patients with DFN3 did not encompass the POU3F4 gene. In all 4 instances, the rearrangement was located proximal and 5-prime to POU3F4, with physical distances varying between 15 and 400 kb. In none of these patients, nor in 2 others with either a perilymphatic gusher during stapes surgery or a temporal bone defect, were point mutations detected within the POU3F4 gene. De Kok et al. (1995) concluded that these cases may be caused by mutations that affect 5-prime noncoding or regulatory sequences. Alternatively, these aberrations may affect the gross chromosomal structure and thus affect expression of POU3F4. A less likely explanation might be the presence of other genes in Xq21.1 that can cause DFN3. </p><p>From observations of DFN3 in association with a complex duplication/paracentric inversion, de Kok et al. (1995) concluded that there is a regulatory element located at least 400 kb upstream of the POU3F4 gene and that this was disconnected from the POU3F4 gene by the inversion. </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">
|
|
<strong>Nomenclature</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">
|
|
<p>Petersen et al. (2008) proposed the designation DFNX2 for this disorder. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Animal Model</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">
|
|
<p>Minowa et al. (1999) created Brn4 (Pou3f4)-deficient mice. They had profound deafness. No gross morphologic changes were observed in the conductive ossicles or cochlea, although there was a dramatic reduction in endocochlear potential. Electron microscopy revealed severe ultrastructural alterations in cochlear spiral ligament fibrocytes. These findings suggested that these fibrocytes, which are mesenchymal in origin and for which a role in potassium ion homeostasis has been postulated, may play a critical role in auditory function. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Cremers (1985); Cremers et al. (1985); Fraser (1965); McRae et al.
|
|
(1969); Thorpe et al. (1974)
|
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
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</h4>
|
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<div>
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Ayazi, S.
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<strong>Choroideremia, obesity and congenital deafness.</strong>
|
|
Am. J. Ophthal. 92: 63-69, 1981.
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[PubMed: 7258279]
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[Full Text: https://doi.org/10.1016/s0002-9394(14)75909-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Bach, I., Brunner, H. G., Beighton, P., Ruvalcaba, R. H. A., Reardon, W., Pembrey, M. E., van der Velde-Visser, S. D., Bruns, G. A. P., Cremers, C. W. R. J., Cremers, F. P. M., Ropers, H.-H.
|
|
<strong>Microdeletions in patients with Gusher-associated, X-linked mixed deafness (DFN3).</strong>
|
|
Am. J. Hum. Genet. 51: 38-44, 1992.
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[PubMed: 1609803]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Bach, I., Robinson, D., Thomas, N., Ropers, H.-H., Cremers, F. P. M.
|
|
<strong>Physical fine mapping of genes underlying X-linked deafness and non fra(X)-X-linked mental retardation at Xq21.</strong>
|
|
Hum. Genet. 89: 620-624, 1992.
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[PubMed: 1511979]
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[Full Text: https://doi.org/10.1007/BF00221950]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Ballo, R., Wallis, C., Wallis, G., Goldblatt, J., Beighton, P.
|
|
<strong>Linkage between X-linked deafness with stapes fixation and a cloned DNA sequence on the long arm of the X-chromosome. (Abstract)</strong>
|
|
Clinical Genetics Society, Aberdeen, Scotland, September 1988.
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Bitner-Glindzicz, M., Turnpenny, P., Hoglund, P., Kaariainen, H., Sankila, E.-M., van der Maarel, S. M., de Kok, Y. J. M., Ropers, H.-H., Cremers, F. P. M., Pembrey, M., Malcolm, S.
|
|
<strong>Further mutations in brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.</strong>
|
|
Hum. Molec. Genet. 4: 1467-1469, 1995.
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[PubMed: 7581392]
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[Full Text: https://doi.org/10.1093/hmg/4.8.1467]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Brunner, H. G., van Bennekom, C. A., Lambermon, E. M. M., Oei, T. L., Cremers, C. W. R. J., Wieringa, B., Ropers, H.-H.
|
|
<strong>The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.</strong>
|
|
Hum. Genet. 80: 337-340, 1988.
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[PubMed: 2904400]
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[Full Text: https://doi.org/10.1007/BF00273647]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Cremers, C. W. R. J.
|
|
<strong>Audiologic features of the X-linked progressive mixed deafness syndrome with perilymphatic Gusher during stapes gusher.</strong>
|
|
Am. J. Otol. 6: 243-246, 1985.
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[PubMed: 4039896]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Cremers, C. W. R. J., Hombergen, G. C. H. J., Scaf, J. J., Huygen, P. L. M., Volkers, W. S., Pinckers, A. J. L. G.
|
|
<strong>X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery.</strong>
|
|
Arch. Otolaryng. 111: 249-254, 1985.
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|
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|
|
[PubMed: 3977755]
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|
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|
[Full Text: https://doi.org/10.1001/archotol.1985.00800060073010]
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</p>
|
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</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Cremers, C. W. R. J., Huygen, P. L. M.
|
|
<strong>Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery).</strong>
|
|
Int. J. Pediat. Otorhinolaryng. 6: 179-185, 1983.
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|
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|
[PubMed: 6662621]
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[Full Text: https://doi.org/10.1016/s0165-5876(83)80118-9]
|
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</div>
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</div>
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</div>
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<div class="modal-footer">
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<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
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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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</body>
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</html>
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