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<title>
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Entry
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- #619832 - AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3; AUNA3
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- OMIM
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<span class="h4">#619832</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/619832"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT) OR (TMEM43)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=619832[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 style="display: table-cell;">Animal Models</div>
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</span>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0112373" 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/619832" 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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>DO:</strong> 0112373<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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619832
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3; AUNA3
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
|
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/3/80?start=-3&limit=10&highlight=80">
|
|
3p25.1
|
|
</a>
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Auditory neuropathy, autosomal dominant 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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<a href="/entry/619832"> 619832 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<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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<span class="mim-font">
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TMEM43
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<span class="mim-font">
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<a href="/entry/612048"> 612048 </a>
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<a href="/clinicalSynopsis/619832" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/619832" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/619832" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<strong> INHERITANCE </strong>
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<strong> HEAD & NECK </strong>
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<em> Ears </em>
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<span class="mim-font">
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- Hearing loss, neural type <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836746&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836746</a>]</span><br /> -
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Abnormal or absent auditory brainstem responses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678418&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678418</a>]</span><br /> -
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Abnormal speech discrimination <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836752&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836752</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001963" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001963</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001963" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001963</a>]</span><br /> -
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Normal otoacoustic emissions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836754</a>]</span><br /> -
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Normal cochlear microphonics <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836755</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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<div style="margin-left: 2em;">
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- Caused by mutation in the transmembrane protein 43 gene (TMEM43, <a href="/entry/612048#0005">612048.0005</a>)<br />
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</span>
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</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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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant auditory neuropathy-3 (AUNA3) is caused by heterozygous mutation in TMEM43 gene (<a href="/entry/612048">612048</a>) on chromosome 3p25.</p>
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<br />
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<a id="description" class="mim-anchor"></a>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<p>Autosomal dominant auditory neuropathy-3 (AUNA3) is characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound (<a href="#1" class="mim-tip-reference" title="Jang, M. W., Oh, D.-Y., Yi, E., Liu, X., Ling, J., Kim, N., Sharma, K., Kim, T. Y., Lee, S., Kim, A.-R., Kim, M. Y., Kim, M., and 32 others. <strong>A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.</strong> Proc. Nat. Acad. Sci. 118: e2019681118, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34050020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34050020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34050020[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.2019681118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34050020">Jang et al., 2021</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34050020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of autosomal dominant auditory neuropathy, see AUNA1 (<a href="/entry/609129">609129</a>).</p>
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Jang, M. W., Oh, D.-Y., Yi, E., Liu, X., Ling, J., Kim, N., Sharma, K., Kim, T. Y., Lee, S., Kim, A.-R., Kim, M. Y., Kim, M., and 32 others. <strong>A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.</strong> Proc. Nat. Acad. Sci. 118: e2019681118, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34050020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34050020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34050020[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.2019681118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34050020">Jang et al. (2021)</a> reported 15 individuals from 2 unrelated families with autosomal dominant auditory neuropathy. In 4 affected individuals (patients 17, 291, 284 and 304), audiologic findings included elevated pure-tone audiogram (PTA) thresholds with disproportionately lower speech discrimination scores. These patients had classic signs of auditory neuropathy, including absent auditory brainstem response despite the presence of distortion-product otoacoustic emissions or cochlear microphonics. PTA thresholds were measured serially in 3 individuals (patients 284, 374 and 376), which demonstrated a time-dependent progression of hearing loss. In one of these 3 individuals (patient 284), hearing loss significantly worsened after 15 years of age. In the other 2 (patients 374 and 376), elevation of low frequency PTA thresholds began from the age of 10 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34050020" 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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<strong>Inheritance</strong>
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<p>The transmission pattern of auditory neuropathy-3 in the family reported by <a href="#1" class="mim-tip-reference" title="Jang, M. W., Oh, D.-Y., Yi, E., Liu, X., Ling, J., Kim, N., Sharma, K., Kim, T. Y., Lee, S., Kim, A.-R., Kim, M. Y., Kim, M., and 32 others. <strong>A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.</strong> Proc. Nat. Acad. Sci. 118: e2019681118, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34050020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34050020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34050020[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.2019681118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34050020">Jang et al. (2021)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34050020" 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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<strong>Clinical Management</strong>
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<p><a href="#1" class="mim-tip-reference" title="Jang, M. W., Oh, D.-Y., Yi, E., Liu, X., Ling, J., Kim, N., Sharma, K., Kim, T. Y., Lee, S., Kim, A.-R., Kim, M. Y., Kim, M., and 32 others. <strong>A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.</strong> Proc. Nat. Acad. Sci. 118: e2019681118, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34050020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34050020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34050020[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.2019681118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34050020">Jang et al. (2021)</a> performed cochlear implants in 3 patients with AUNA3, which restored the ability to discriminate speech. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34050020" 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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<strong>Molecular Genetics</strong>
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<p>In 5 members in 3 generations of a Han Chinese family (HN66) and 10 members in 4 generations of a Korean family (SB162) with AUNA3, <a href="#1" class="mim-tip-reference" title="Jang, M. W., Oh, D.-Y., Yi, E., Liu, X., Ling, J., Kim, N., Sharma, K., Kim, T. Y., Lee, S., Kim, A.-R., Kim, M. Y., Kim, M., and 32 others. <strong>A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.</strong> Proc. Nat. Acad. Sci. 118: e2019681118, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34050020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34050020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34050020[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.2019681118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34050020">Jang et al. (2021)</a> identified a heterozygous nonsense mutation (R372X; <a href="/entry/612048#0005">612048.0005</a>) in the TMEM43 gene. The mutation was identified by a combination of linkage analysis, whole-exome sequencing, and Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34050020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Jang, M. W., Oh, D.-Y., Yi, E., Liu, X., Ling, J., Kim, N., Sharma, K., Kim, T. Y., Lee, S., Kim, A.-R., Kim, M. Y., Kim, M., and 32 others. <strong>A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.</strong> Proc. Nat. Acad. Sci. 118: e2019681118, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34050020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34050020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34050020[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.2019681118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34050020">Jang et al. (2021)</a> found that mouse models heterozygous or homozygous for an R372X mutation (<a href="/entry/612048#0005">612048.0005</a>) in the Tmem43 gene demonstrated progressive hearing loss and abnormal passive conductance current from glia-like supporting cells (GLSs) in the organ of Corti of the inner ear. On microscopic examination, apical surfaces of the GLSs at the inner border of the organ of Corti from mice with the heterozygous R372X mutation were narrower compared to wildtype mice starting at 7 months of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34050020" 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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Jang, M. W., Oh, D.-Y., Yi, E., Liu, X., Ling, J., Kim, N., Sharma, K., Kim, T. Y., Lee, S., Kim, A.-R., Kim, M. Y., Kim, M., and 32 others.
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<strong>A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.</strong>
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Proc. Nat. Acad. Sci. 118: e2019681118, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34050020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34050020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34050020[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34050020" 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.2019681118" target="_blank">Full Text</a>]
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Hilary J. Vernon : 04/08/2022
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carol : 04/12/2022
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carol : 04/11/2022<br>carol : 04/08/2022
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AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3; AUNA3
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<strong>DO:</strong> 0112373;
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Phenotype
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Inheritance
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3p25.1
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Auditory neuropathy, autosomal dominant 3
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619832
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Autosomal dominant
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3
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TMEM43
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612048
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant auditory neuropathy-3 (AUNA3) is caused by heterozygous mutation in TMEM43 gene (612048) on chromosome 3p25.</p>
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<strong>Description</strong>
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<p>Autosomal dominant auditory neuropathy-3 (AUNA3) is characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound (Jang et al., 2021). </p><p>For a discussion of genetic heterogeneity of autosomal dominant auditory neuropathy, see AUNA1 (609129).</p>
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<p>Jang et al. (2021) reported 15 individuals from 2 unrelated families with autosomal dominant auditory neuropathy. In 4 affected individuals (patients 17, 291, 284 and 304), audiologic findings included elevated pure-tone audiogram (PTA) thresholds with disproportionately lower speech discrimination scores. These patients had classic signs of auditory neuropathy, including absent auditory brainstem response despite the presence of distortion-product otoacoustic emissions or cochlear microphonics. PTA thresholds were measured serially in 3 individuals (patients 284, 374 and 376), which demonstrated a time-dependent progression of hearing loss. In one of these 3 individuals (patient 284), hearing loss significantly worsened after 15 years of age. In the other 2 (patients 374 and 376), elevation of low frequency PTA thresholds began from the age of 10 years. </p>
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<p>The transmission pattern of auditory neuropathy-3 in the family reported by Jang et al. (2021) was consistent with autosomal dominant inheritance. </p>
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<p>Jang et al. (2021) performed cochlear implants in 3 patients with AUNA3, which restored the ability to discriminate speech. </p>
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<strong>Molecular Genetics</strong>
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<p>In 5 members in 3 generations of a Han Chinese family (HN66) and 10 members in 4 generations of a Korean family (SB162) with AUNA3, Jang et al. (2021) identified a heterozygous nonsense mutation (R372X; 612048.0005) in the TMEM43 gene. The mutation was identified by a combination of linkage analysis, whole-exome sequencing, and Sanger sequencing. </p>
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<p>Jang et al. (2021) found that mouse models heterozygous or homozygous for an R372X mutation (612048.0005) in the Tmem43 gene demonstrated progressive hearing loss and abnormal passive conductance current from glia-like supporting cells (GLSs) in the organ of Corti of the inner ear. On microscopic examination, apical surfaces of the GLSs at the inner border of the organ of Corti from mice with the heterozygous R372X mutation were narrower compared to wildtype mice starting at 7 months of age. </p>
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<strong>REFERENCES</strong>
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Jang, M. W., Oh, D.-Y., Yi, E., Liu, X., Ling, J., Kim, N., Sharma, K., Kim, T. Y., Lee, S., Kim, A.-R., Kim, M. Y., Kim, M., and 32 others.
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<strong>A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.</strong>
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Proc. Nat. Acad. Sci. 118: e2019681118, 2021.
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[PubMed: 34050020]
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[Full Text: https://doi.org/10.1073/pnas.2019681118]
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Hilary J. Vernon : 04/08/2022
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carol : 04/12/2022<br>carol : 04/11/2022<br>carol : 04/08/2022
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