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Entry
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- #220290 - DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
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- OMIM
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<p>
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<span class="h4">#220290</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/220290"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS220290"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</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="#populationGenetics">Population Genetics</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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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 class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=DEAFNESS, AUTOSOMAL RECESSIVE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12047&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="#mimGeneReviewsFold" id="mimGeneReviewsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling."><span id="mimGeneReviewsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Gene Reviews</div>
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<div id="mimGeneReviewsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1272/" title="GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">GJB2-Related Autosomal Rec…</a></div><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1434/" title="Genetic Hearing Loss Overview" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Genetic Hearing Loss Overv…</a></div>
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</div>
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<div><a href="https://www.diseaseinfosearch.org/x/8159" 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=220290[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="#mimNewbornScreeningFold" id="mimNewbornScreeningToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Information and resources for newborn screening and genetics."><span id="mimNewbornScreeningToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Newborn Screening</div>
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<div id="mimNewbornScreeningFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.acmg.net/PDFLibrary/Hearing-Loss-ACT-Sheet.pdf" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">ACMG ACT Sheet</a></div><div style="margin-left: 0.5em;"><a href="https://www.acmg.net/PDFLibrary/Hearing-Loss-Algorithm.pdf" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">ACMG Algorithm</a></div>
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</div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90636" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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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:0110475" 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/220290" 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://omia.org/OMIA002439/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:220290" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 90636<br />
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<strong>DO:</strong> 0110475<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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220290
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</span>
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</span>
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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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DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
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</h3>
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<div>
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<br />
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<p>
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Other entities represented in this entry:
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<span class="h3 mim-font">
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DEAFNESS, DIGENIC, GJB2/GJB6, INCLUDED
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<span class="h4 mim-font">
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DEAFNESS, DIGENIC, GJB2/GJB3, INCLUDED
|
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</span>
|
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</div>
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</div>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
|
<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/1/423?start=-3&limit=10&highlight=423">
|
|
1p34.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Deafness, digenic, GJB2/GJB3
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/220290"> 220290 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</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">
|
|
GJB3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603324"> 603324 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/13/15?start=-3&limit=10&highlight=15">
|
|
13q12.11
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Deafness, autosomal recessive 1A
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/220290"> 220290 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</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">
|
|
GJB2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/121011"> 121011 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/13/16?start=-3&limit=10&highlight=16">
|
|
13q12.11
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Deafness, digenic GJB2/GJB6
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/220290"> 220290 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</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">
|
|
GJB6
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604418"> 604418 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/220290" 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/PS220290" 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/220290" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/220290" 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>
|
|
|
|
|
|
|
|
<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">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br /> -
|
|
Digenic dominant (see MISCELLANEOUS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232308&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232308</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">
|
|
|
|
- Hearing loss, sensorineural, prelingual profound <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832395&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832395</a>]</span><br /> -
|
|
Vestibular dysfunction (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848606&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848606</a>, <a href="https://bioportal.bioontology.org/search?q=C1843865&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843865</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001751</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001756" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001756</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001756" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001756</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">
|
|
|
|
- About half of patients report vestibular symptoms<br /> -
|
|
Digenic form caused by simultaneous heterozygous mutations in GJB2 and either GJB3 or GJB6<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 gap junction protein, beta-2 gene (GJB2, <a href="/entry/121011#0002">121011.0002</a>)<br /> -
|
|
Caused by simultaneous mutation in both the gap junction protein, beta-2 gene (GJB2, <a href="/entry/121011#0005">121011.0005</a>) and the gap junction protein, beta-6 gene (GJB6, <a href="/entry/604418#0004">604418.0004</a>)<br /> -
|
|
Caused by simultaneous mutation in both the gap junction protein, beta-2 gene (GJB2, <a href="/entry/121011#0014">121011.0014</a>) and the gap junction protein, beta-3 gene (GJB3, <a href="/entry/603324#0011">603324.0011</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, autosomal recessive
|
|
- <a href="/phenotypicSeries/PS220290">PS220290</a>
|
|
- 109 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/87?start=-3&limit=10&highlight=87"> 1p36.31-p36.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614414"> Deafness, autosomal recessive 96 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614414"> 614414 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614414"> DFNB96 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614414"> 614414 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/98?start=-3&limit=10&highlight=98"> 1p36.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609006"> Deafness, autosomal recessive 36 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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|
|
|
</span>
|
|
</td>
|
|
<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>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/609006"> 609006 </a>
|
|
</span>
|
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</td>
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|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606351"> ESPN </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/606351"> 606351 </a>
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</span>
|
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</td>
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</tr>
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|
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<tr>
|
|
<td>
|
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<span class="mim-font">
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|
|
|
<a href="/geneMap/1/98?start=-3&limit=10&highlight=98"> 1p36.31 </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/609006"> Deafness, neurosensory, without vestibular involvement, autosomal dominant </a>
|
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</span>
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
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|
|
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</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
|
<a href="/entry/609006"> 609006 </a>
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606351"> ESPN </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/606351"> 606351 </a>
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</span>
|
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</td>
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</tr>
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|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
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|
<a href="/geneMap/1/423?start=-3&limit=10&highlight=423"> 1p34.3 </a>
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</span>
|
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</td>
|
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<td>
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<span class="mim-font">
|
|
<a href="/entry/220290"> Deafness, digenic, GJB2/GJB3 </a>
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</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
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|
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<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>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/220290"> 220290 </a>
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603324"> GJB3 </a>
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603324"> 603324 </a>
|
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</span>
|
|
</td>
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</tr>
|
|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/682?start=-3&limit=10&highlight=682"> 1p31.3 </a>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617654"> ?Deafness, autosomal recessive 108 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617654"> 617654 </a>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602336"> ROR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602336"> 602336 </a>
|
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</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/838?start=-3&limit=10&highlight=838"> 1p21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608653"> Deafness, autosomal recessive 32, with or without immotile sperm </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608653"> 608653 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603504"> CDC14A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603504"> 603504 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1307?start=-3&limit=10&highlight=1307"> 1q23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600791"> Enlarged vestibular aqueduct, digenic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600791"> 600791 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602208"> KCNJ10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602208"> 602208 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1825?start=-3&limit=10&highlight=1825"> 1q43-q44 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612433"> Deafness, autosomal recessive 45 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612433"> 612433 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612433"> DFNB45 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612433"> 612433 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/26?start=-3&limit=10&highlight=26"> 2p25.1-p24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609946"> Deafness, neurosensory, autosomal recessive 47 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609946"> 609946 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609946"> DFNB47 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609946"> 609946 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/108?start=-3&limit=10&highlight=108"> 2p23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601071"> Deafness, autosomal recessive 9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601071"> 601071 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603681"> OTOF </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603681"> 603681 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/108?start=-3&limit=10&highlight=108"> 2p23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601071"> Auditory neuropathy, autosomal recessive, 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601071"> 601071 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603681"> OTOF </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603681"> 603681 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/269?start=-3&limit=10&highlight=269"> 2p16.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614934"> Deafness, autosomal recessive 70, with or without adult-onset neurodegeneration </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614934"> 614934 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610316"> PNPT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610316"> 610316 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/421?start=-3&limit=10&highlight=421"> 2p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615429"> ?Deafness, autosomal recessive 88 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615429"> 615429 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615427"> ELMOD3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615427"> 615427 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/676?start=-3&limit=10&highlight=676"> 2q23-q31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605818"> Deafness, autosomal recessive 27 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605818"> 605818 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605818"> DFNB27 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605818"> 605818 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/820?start=-3&limit=10&highlight=820"> 2q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610220"> Deafness, autosomal recessive 59 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/610220"> 610220 </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/610219"> PJVK </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/610219"> 610219 </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/3/58?start=-3&limit=10&highlight=58"> 3p25.3 </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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<a href="/entry/601386"> {Deafness, autosomal recessive 12, modifier of} </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/601386"> 601386 </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/108733"> ATP2B2 </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/108733"> 108733 </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/3/257?start=-3&limit=10&highlight=257"> 3p21.31 </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/600971"> Deafness, autosomal recessive 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">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/600971"> 600971 </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/607237"> TMIE </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/607237"> 607237 </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/3/582?start=-3&limit=10&highlight=582"> 3q13.33 </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/620551"> Deafness, autosomal recessive 121 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<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/620551"> 620551 </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/610464"> GPR156 </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/610464"> 610464 </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/3/597?start=-3&limit=10&highlight=597"> 3q13.33 </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/609646"> Deafness, autosomal recessive 42 </a>
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609646"> 609646 </a>
|
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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/609739"> ILDR1 </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/609739"> 609739 </a>
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</span>
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</td>
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</tr>
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/116?start=-3&limit=10&highlight=116"> 4p15.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619174"> Deafness, autosomal recessive 117 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619174"> 619174 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618988"> CLRN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
|
<a href="/entry/618988"> 618988 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/181?start=-3&limit=10&highlight=181"> 4p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613285"> Deafness, autosomal recessive 25 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613285"> 613285 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613283"> GRXCR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613283"> 613283 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/209?start=-3&limit=10&highlight=209"> 4q12-q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609952"> Deafness, autosomal recessive 55 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609952"> 609952 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609952"> DFNB55 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609952"> 609952 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/578?start=-3&limit=10&highlight=578"> 4q31.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605428"> ?Deafness, autosomal recessive 26 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605428"> 605428 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604439"> GAB1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604439"> 604439 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/228?start=-3&limit=10&highlight=228"> 5q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610153"> Deafness, autosomal recessive 49 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610153"> 610153 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610572"> MARVELD2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610572"> 610572 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/236?start=-3&limit=10&highlight=236"> 5q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618257"> ?Deafness, autosomal recessive 112 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618257"> 618257 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607012"> BDP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607012"> 607012 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/349?start=-3&limit=10&highlight=349"> 5q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618422"> Deafness, autosomal recessive 100 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618422"> 618422 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611648"> PPIP5K2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611648"> 611648 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/417?start=-3&limit=10&highlight=417"> 5q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620238"> Deafness, autosomal recessive 120 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620238"> 620238 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620215"> MINAR2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620215"> 620215 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/626?start=-3&limit=10&highlight=626"> 5q32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615837"> ?Deafness, autosomal recessive 101 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
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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/615837"> 615837 </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/615762"> GRXCR2 </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/615762"> 615762 </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/5/751?start=-3&limit=10&highlight=751"> 5q35.1 </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/600791"> Enlarged vestibular aqueduct </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/600791"> 600791 </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/601093"> FOXI1 </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/601093"> 601093 </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/6/18?start=-3&limit=10&highlight=18"> 6p25.2 </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/613453"> ?Deafness, autosomal recessive 91 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/613453"> 613453 </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/173321"> SERPINB6 </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/173321"> 173321 </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/6/110?start=-3&limit=10&highlight=110"> 6p22.3 </a>
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</span>
|
|
</td>
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<td>
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<span class="mim-font">
|
|
<a href="/entry/610212"> ?Deafness, autosomal recessive 66 </a>
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
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|
|
|
</span>
|
|
</td>
|
|
<td>
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|
<span class="mim-font">
|
|
<a href="/entry/610212"> 610212 </a>
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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/605755"> DCDC2 </a>
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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/605755"> 605755 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/geneMap/6/119?start=-3&limit=10&highlight=119"> 6p22.3 </a>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616515"> ?Deafness, autosomal recessive 104 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616515"> 616515 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611410"> RIPOR2 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/611410"> 611410 </a>
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</span>
|
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</td>
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</tr>
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|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/383?start=-3&limit=10&highlight=383"> 6p21.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609706"> Deafness, autosomal recessive 53 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609706"> 609706 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120290"> COL11A2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120290"> 120290 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/434?start=-3&limit=10&highlight=434"> 6p21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610265"> Deafness, autosomal recessive 67 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610265"> 610265 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609427"> LHFPL5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609427"> 609427 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/549?start=-3&limit=10&highlight=549"> 6p21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616042"> ?Deafness, autosomal recessive 103 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616042"> 616042 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607293"> CLIC5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607293"> 607293 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/658?start=-3&limit=10&highlight=658"> 6q14.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607821"> Deafness, autosomal recessive 37 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607821"> 607821 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600970"> MYO6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600970"> 600970 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/1006?start=-3&limit=10&highlight=1006"> 6q26-q27 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608219"> Deafness, autosomal recessive 38 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608219"> 608219 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608219"> DFNB38 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608219"> 608219 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/249?start=-3&limit=10&highlight=249"> 7p12.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610154"> ?Deafness, autosomal recessive 44 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610154"> 610154 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103072"> ADCY1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103072"> 103072 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/376?start=-3&limit=10&highlight=376"> 7q21.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608265"> Deafness, autosomal recessive 39 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608265"> 608265 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142409"> HGF </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142409"> 142409 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/558?start=-3&limit=10&highlight=558"> 7q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613865"> ?Deafness, autosomal recessive 61 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613865"> 613865 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604943"> SLC26A5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604943"> 604943 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/577?start=-3&limit=10&highlight=577"> 7q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600791"> Deafness, autosomal recessive 4, with enlarged vestibular aqueduct </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600791"> 600791 </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/605646"> SLC26A4 </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/605646"> 605646 </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/7/581?start=-3&limit=10&highlight=581"> 7q31 </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/603678"> Deafness, autosomal recessive 14 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<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/603678"> 603678 </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/603678"> DFNB14 </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/603678"> 603678 </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/7/582?start=-3&limit=10&highlight=582"> 7q31 </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/603010"> Deafness, autosomal recessive 17 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/603010"> 603010 </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/603010"> DFNB17 </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/603010"> 603010 </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/7/604?start=-3&limit=10&highlight=604"> 7q31.2 </a>
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|
</span>
|
|
</td>
|
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<td>
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|
<span class="mim-font">
|
|
<a href="/entry/616705"> ?Deafness, autosomal recessive 97 </a>
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616705"> 616705 </a>
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</span>
|
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</td>
|
|
<td>
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|
<span class="mim-font">
|
|
<a href="/entry/164860"> MET </a>
|
|
</span>
|
|
</td>
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|
<td>
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<span class="mim-font">
|
|
<a href="/entry/164860"> 164860 </a>
|
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</span>
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</td>
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</tr>
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|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/geneMap/7/721?start=-3&limit=10&highlight=721"> 7q34-q36 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603098"> Deafness, autosomal recessive 13 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603098"> 603098 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603098"> DFNB13 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603098"> 603098 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/66?start=-3&limit=10&highlight=66"> 8p22-p21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612789"> Deafness, autosomal recessive 71 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612789"> 612789 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612789"> DFNB71 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612789"> 612789 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/400?start=-3&limit=10&highlight=400"> 8q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619553"> Deafness, autosomal recessive 118, with cochlear aplasia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619553"> 619553 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619553"> DFNB118 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619553"> 619553 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/412?start=-3&limit=10&highlight=412"> 8q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618013"> ?Deafness, autosomal recessive 109 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618013"> 618013 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612959"> ESRP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612959"> 612959 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/484?start=-3&limit=10&highlight=484"> 8q23.1-q23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620794"> Deafness, autosomal recessive 124 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620794"> 620794 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607843"> PKHD1L1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607843"> 607843 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/45?start=-3&limit=10&highlight=45"> 9p23-p21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613685"> Deafness, autosomal recessive 83 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613685"> 613685 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613685"> DFNB83 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613685"> 613685 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/243?start=-3&limit=10&highlight=243"> 9q21.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600974"> Deafness, autosomal recessive 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600974"> 600974 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606706"> TMC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606706"> 606706 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/443?start=-3&limit=10&highlight=443"> 9q32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607084"> Deafness, autosomal recessive 31 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607084"> 607084 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607928"> WHRN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607928"> 607928 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/687?start=-3&limit=10&highlight=687"> 9q34.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613307"> Deafness, autosomal recessive 79 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613307"> 613307 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613354"> TPRN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613354"> 613354 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/112?start=-3&limit=10&highlight=112"> 10p12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607101"> Deafness, autosomal recessive 30 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607101"> 607101 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606808"> MYO3A </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/606808"> 606808 </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/10/128?start=-3&limit=10&highlight=128"> 10p11.23-q21.1 </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/607239"> Deafness, autosomal recessive 33 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/607239"> 607239 </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/607239"> DFNB33 </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/607239"> 607239 </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/10/209?start=-3&limit=10&highlight=209"> 10q21.1 </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/609533"> Deafness, autosomal recessive 23 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/609533"> 609533 </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/605514"> PCDH15 </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/605514"> 605514 </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/10/281?start=-3&limit=10&highlight=281"> 10q22.1 </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/601386"> Deafness, autosomal recessive 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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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/601386"> 601386 </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/605516"> CDH23 </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/605516"> 605516 </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/10/491?start=-3&limit=10&highlight=491"> 10q24.31 </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/618003"> Deafness, autosomal recessive 57 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
|
|
</td>
|
|
<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/618003"> 618003 </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/612971"> PDZD7 </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/612971"> 612971 </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/11/39?start=-3&limit=10&highlight=39"> 11p15.5 </a>
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|
</span>
|
|
</td>
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<td>
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<span class="mim-font">
|
|
<a href="/entry/617637"> Deafness autosomal recessive 106 </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="Autosomal recessive">AR</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>
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<span class="mim-font">
|
|
<a href="/entry/617637"> 617637 </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/614988"> EPS8L2 </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/614988"> 614988 </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/11/210?start=-3&limit=10&highlight=210"> 11p15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
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<span class="mim-font">
|
|
<a href="/entry/602092"> Deafness, autosomal recessive 18A </a>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602092"> 602092 </a>
|
|
</span>
|
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</td>
|
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<td>
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<span class="mim-font">
|
|
<a href="/entry/605242"> USH1C </a>
|
|
</span>
|
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</td>
|
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<td>
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<span class="mim-font">
|
|
<a href="/entry/605242"> 605242 </a>
|
|
</span>
|
|
</td>
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|
</tr>
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/211?start=-3&limit=10&highlight=211"> 11p15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614945"> Deafness, autosomal recessive 18B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614945"> 614945 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604487"> OTOG </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604487"> 604487 </a>
|
|
</span>
|
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</td>
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</tr>
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/246?start=-3&limit=10&highlight=246"> 11p14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620877"> ?Deafness, autosomal recessive 125 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620877"> 620877 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602835"> GAS2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602835"> 602835 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
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|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/273?start=-3&limit=10&highlight=273"> 11p13-p12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609941"> Deafness, autosomal recessive 51 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609941"> 609941 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609941"> DFNB51 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609941"> 609941 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/670?start=-3&limit=10&highlight=670"> 11q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614899"> Deafness, autosomal recessive 93 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614899"> 614899 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607314"> CABP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607314"> 607314 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/714?start=-3&limit=10&highlight=714"> 11q13.4 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611451"> Deafness, autosomal recessive 63 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611451"> 611451 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612414"> LRTOMT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612414"> 612414 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/775?start=-3&limit=10&highlight=775"> 11q13.5 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600060"> Deafness, autosomal recessive 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600060"> 600060 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276903"> MYO7A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276903"> 276903 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/792?start=-3&limit=10&highlight=792"> 11q14.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618434"> ?Deafness, autosomal recessive 94 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618434"> 618434 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612803"> NARS2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612803"> 612803 </a>
|
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</span>
|
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</td>
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</tr>
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/902?start=-3&limit=10&highlight=902"> 11q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
|
<a href="/entry/611022"> Deafness, autosomal recessive 24 </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611022"> 611022 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/179410"> RDX </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/179410"> 179410 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/980?start=-3&limit=10&highlight=980"> 11q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618145"> Deafness, autosomal recessive 111 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618145"> 618145 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604873"> MPZL2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604873"> 604873 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/1026?start=-3&limit=10&highlight=1026"> 11q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603629"> Deafness, autosomal recessive 21 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603629"> 603629 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602574"> TECTA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602574"> 602574 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/1096?start=-3&limit=10&highlight=1096"> 11q25-qter </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604060"> Deafness, autosomal recessive 20 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604060"> 604060 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604060"> DFNB20 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604060"> 604060 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/133?start=-3&limit=10&highlight=133"> 12p13.2-p11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610143"> Deafness, autosomal recessive 62 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610143"> 610143 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610143"> DFNB62 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610143"> 610143 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/203?start=-3&limit=10&highlight=203"> 12p12.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615974"> ?Deafness, autosomal recessive 102 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615974"> 615974 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600206"> EPS8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600206"> 600206 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/588?start=-3&limit=10&highlight=588"> 12q14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613718"> Deafness, autosomal recessive 74 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613718"> 613718 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613719"> MSRB3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613719"> 613719 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/649?start=-3&limit=10&highlight=649"> 12q21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614944"> Deafness, autosomal recessive 84B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614944"> 614944 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614925"> OTOGL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614925"> 614925 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/650?start=-3&limit=10&highlight=650"> 12q21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613391"> Deafness, autosomal recessive 84A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613391"> 613391 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603317"> PTPRQ </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603317"> 603317 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/15?start=-3&limit=10&highlight=15"> 13q12.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/220290"> Deafness, autosomal recessive 1A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/220290"> 220290 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/121011"> GJB2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/121011"> 121011 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/16?start=-3&limit=10&highlight=16"> 13q12.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/220290"> Deafness, digenic GJB2/GJB6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/220290"> 220290 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604418"> GJB6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604418"> 604418 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/16?start=-3&limit=10&highlight=16"> 13q12.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612645"> Deafness, autosomal recessive 1B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612645"> 612645 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604418"> GJB6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604418"> 604418 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/288?start=-3&limit=10&highlight=288"> 13q32.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620714"> ?Deafness, autosomal recessive 122 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620714"> 620714 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618203"> TMTC4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618203"> 618203 </a>
|
|
</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/14/110?start=-3&limit=10&highlight=110"> 14q12 </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/600792"> Deafness, autosomal recessive 5 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/600792"> 600792 </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/600792"> DFNB5 </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/600792"> 600792 </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/14/149?start=-3&limit=10&highlight=149"> 14q12 </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/618094"> ?Deafness, autosomal recessive 110 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/618094"> 618094 </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/603196"> COCH </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/603196"> 603196 </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/14/407?start=-3&limit=10&highlight=407"> 14q24.3 </a>
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|
|
</span>
|
|
</td>
|
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<td>
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<span class="mim-font">
|
|
<a href="/entry/608565"> Deafness, autosomal recessive 35 </a>
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</span>
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</td>
|
|
<td>
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|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608565"> 608565 </a>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602167"> ESRRB </a>
|
|
</span>
|
|
</td>
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|
<td>
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|
<span class="mim-font">
|
|
<a href="/entry/602167"> 602167 </a>
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</span>
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</td>
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</tr>
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/geneMap/15/154?start=-3&limit=10&highlight=154"> 15q15.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603720"> Deafness, autosomal recessive 16 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603720"> 603720 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606440"> STRC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606440"> 606440 </a>
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</span>
|
|
</td>
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</tr>
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/181?start=-3&limit=10&highlight=181"> 15q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619615"> Deafness, autosomal recessive 119 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619615"> 619615 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619578"> AFG2B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619578"> 619578 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/421?start=-3&limit=10&highlight=421"> 15q25.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609439"> Deafness, autosomal recessive 48 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609439"> 609439 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605564"> CIB2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605564"> 605564 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/108?start=-3&limit=10&highlight=108"> 16p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614617"> Deafness, autosomal recessive 86 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614617"> 614617 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613577"> TBC1D24 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613577"> 613577 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/125?start=-3&limit=10&highlight=125"> 16p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619093"> Deafness, autosomal recessive 116 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619093"> 619093 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615799"> CLDN9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615799"> 615799 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/263?start=-3&limit=10&highlight=263"> 16p12.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607039"> Deafness, autosomal recessive 22 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607039"> 607039 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607038"> OTOA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607038"> 607038 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/375?start=-3&limit=10&highlight=375"> 16p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620745"> ?Deafness, autosomal recessive 123 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620745"> 620745 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/186591"> STX4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/186591"> 186591 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/655?start=-3&limit=10&highlight=655"> 16q23.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613916"> Deafness, autosomal recessive 89 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613916"> 613916 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601421"> KARS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601421"> 601421 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/76?start=-3&limit=10&highlight=76"> 17p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618457"> ?Deafness, autosomal recessive 115 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618457"> 618457 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612584"> SPNS2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612584"> 612584 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/230?start=-3&limit=10&highlight=230"> 17p12-q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613392"> Deafness, autosomal recessive 85 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613392"> 613392 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613392"> DFNB85 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613392"> 613392 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/278?start=-3&limit=10&highlight=278"> 17p11.2 </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/600316"> Deafness, autosomal recessive 3 </a>
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</span>
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</td>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<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>
|
|
</td>
|
|
<td>
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<span class="mim-font">
|
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<a href="/entry/600316"> 600316 </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/602666"> MYO15A </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/602666"> 602666 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
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<span class="mim-font">
|
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|
|
<a href="/geneMap/17/292?start=-3&limit=10&highlight=292"> 17p11.2 </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/618456"> Deafness, autosomal recessive 114 </a>
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</span>
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</td>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<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>
|
|
</td>
|
|
<td>
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<span class="mim-font">
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|
<a href="/entry/618456"> 618456 </a>
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604330"> GRAP </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/604330"> 604330 </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/17/411?start=-3&limit=10&highlight=411"> 17q12 </a>
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|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618481"> Deafness, autosomal recessive 99 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618481"> 618481 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616178"> TMEM132E </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616178"> 616178 </a>
|
|
</span>
|
|
</td>
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|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/955?start=-3&limit=10&highlight=955"> 17q25.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617639"> Deafness, autosomal recessive 107 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617639"> 617639 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606962"> WBP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606962"> 606962 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/3?start=-3&limit=10&highlight=3"> 18p11.32-p11.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609647"> Deafness, autosomal recessive 46 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609647"> 609647 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609647"> DFNB46 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609647"> 609647 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/162?start=-3&limit=10&highlight=162"> 18q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613079"> Deafness, autosomal recessive 77 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613079"> 613079 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613072"> LOXHD1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613072"> 613072 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/110?start=-3&limit=10&highlight=110"> 19p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601869"> Deafness, autosomal recessive 15 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601869"> 601869 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608792"> GIPC3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608792"> 608792 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/261?start=-3&limit=10&highlight=261"> 19p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610419"> Deafness, autosomal recessive 68 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610419"> 610419 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605111"> S1PR2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605111"> 605111 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/610?start=-3&limit=10&highlight=610"> 19q13.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615540"> Deafness, autosomal recessive 76 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615540"> 615540 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615535"> SYNE4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615535"> 615535 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/797?start=-3&limit=10&highlight=797"> 19q13.31-q13.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618410"> Deafness, autosomal recessive 113 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618410"> 618410 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614591"> CEACAM16 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614591"> 614591 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/391?start=-3&limit=10&highlight=391"> 20q13.2-q13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610248"> Deafness, autosomal recessive 65 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610248"> 610248 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610248"> DFNB65 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610248"> 610248 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/21/93?start=-3&limit=10&highlight=93"> 21q22.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614035"> Deafness, autosomal recessive 29 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614035"> 614035 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605608"> CLDN14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605608"> 605608 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/21/134?start=-3&limit=10&highlight=134"> 21q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601072"> Deafness, autosomal recessive 8/10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601072"> 601072 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605511"> TMPRSS3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605511"> 605511 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/21/162?start=-3&limit=10&highlight=162"> 21q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-1A (DFNB1A) is caused by homozygous or compound heterozygous mutation in the GJB2 gene (<a href="/entry/121011">121011</a>), which encodes the gap junction protein connexin-26 (CX26), on chromosome 13q12.</p><p>Autosomal dominant deafness-3A (DFNA3A; <a href="/entry/601544">601544</a>) is an allelic disorder. See also DFNB1B (<a href="/entry/612645">612645</a>), which is caused by mutation in the GJB6 gene (<a href="/entry/604418">604418</a>) on chromosome 13q12.</p>
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<p><a href="#51" class="mim-tip-reference" title="Scott, D. A., Carmi, R., Elbedour, K., Duyk, G. M., Stone, E. M., Sheffield, V. C. <strong>Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. (Letter)</strong> Am. J. Hum. Genet. 57: 965-968, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573061</a>]" pmid="7573061">Scott et al. (1995)</a> studied a highly inbred Bedouin family with autosomal recessive deafness. The family belonged to a tribe founded approximately 200 years ago by an Arab-Bedouin male who emigrated from Egypt to the southern region of what was then Palestine. He married a local woman and had 7 children, 5 of whom survived to adulthood. Consanguineous marriage had been the rule in the tribe since its third generation. The tribe was then in its seventh generation and consisted of some 3,000 people, all of whom resided in a single geographic area in Israel that is separated from other Bedouin communities. Birth rates within the tribe were high, and polygamy was common. Within the past generation there had been 80 individuals with congenital deafness; all of the affected individuals were descendants of 2 of the 5 adult sons of the founder. The deafness was profound prelingual neurosensory hearing loss with drastically elevated audiometric thresholds at all frequencies. All deaf individuals had an otherwise normal phenotype with the absence of external ear abnormalities, retinopathy, or renal defects, and all were of normal intelligence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7573061" 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="#12" class="mim-tip-reference" title="Cheng, X., Li, L., Brashears, S., Morlet, T., Ng, S. S., Berlin, C., Hood, L., Keats, B. <strong>Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.</strong> Am. J. Med. Genet. 139A: 13-18, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16222667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16222667</a>] [<a href="https://doi.org/10.1002/ajmg.a.30929" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16222667">Cheng et al. (2005)</a> noted that 4% of 777 unrelated children with hearing loss had medical records that listed an environmental cause for the deafness, and that 11% of those with an unknown etiology were found to have GJB2/GJB6 mutations. Otoacoustic emissions testing to detect functional outer hair cells identified 76 children (10%) with positive emissions, consistent with auditory neuropathy. Five of the patients with auditory neuropathy were homozygous or compound heterozygous for mutations in the GJB2 gene. <a href="#12" class="mim-tip-reference" title="Cheng, X., Li, L., Brashears, S., Morlet, T., Ng, S. S., Berlin, C., Hood, L., Keats, B. <strong>Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.</strong> Am. J. Med. Genet. 139A: 13-18, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16222667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16222667</a>] [<a href="https://doi.org/10.1002/ajmg.a.30929" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16222667">Cheng et al. (2005)</a> suggested that lack of functional gap junctions due to GJB2 mutations does not necessarily destroy all outer hair cell function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16222667" 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 survey by <a href="#21" class="mim-tip-reference" title="Dodson, K. M., Blanton, S. H., Welch, K. O., Norris, V. W., Nuzzo, R. L., Wegelin, J. A., Marin, R. S., Nance, W. E., Pandya, A., Arnos, K. S. <strong>Vestibular dysfunction in DFNB1 deafness.</strong> Am. J. Med. Genet. 155A: 993-1000, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21465647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21465647</a>] [<a href="https://doi.org/10.1002/ajmg.a.33828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21465647">Dodson et al. (2011)</a>, 127 (54%) of 235 respondents with DFNB1 due to mutations in the GJB2 and/or GJB6 genes reported vestibular dysfunction, compared to 25 (41%) of 61 deaf controls without DFNB1 deafness (p less than 0.03). Most of the DFNB1 patients with vertigo had to lie down for it to subside, and 48% reported that vertigo interfered with activities of daily living. Vertigo was reported by significantly more cases with truncating than nontruncating mutations and was also associated with a family history of dizziness. <a href="#21" class="mim-tip-reference" title="Dodson, K. M., Blanton, S. H., Welch, K. O., Norris, V. W., Nuzzo, R. L., Wegelin, J. A., Marin, R. S., Nance, W. E., Pandya, A., Arnos, K. S. <strong>Vestibular dysfunction in DFNB1 deafness.</strong> Am. J. Med. Genet. 155A: 993-1000, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21465647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21465647</a>] [<a href="https://doi.org/10.1002/ajmg.a.33828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21465647">Dodson et al. (2011)</a> concluded that vestibular dysfunction is more common in DFNB1 deafness than previously recognized. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21465647" 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="#50" class="mim-tip-reference" title="Schimmenti, L. A., Martinez, A., Telatar, M., Lai, C.-H., Shapiro, N., Fox, M., Warman, B., McCarra, M., Crandall, B., Sininger, Y., Grody, W. W., Palmer, C. G. S. <strong>Infant hearing loss and connexin testing in a diverse population.</strong> Genet. Med. 10: 517-524, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18580690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18580690</a>] [<a href="https://doi.org/10.1097/gim.0b013e31817708fa" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18580690">Schimmenti et al. (2008)</a> enrolled 95 infants with hearing loss from whom both exons of Cx26 were sequenced and the Cx30 deletion was assayed in a study comparing infants with and without connexin-related hearing loss. Among the 82 infants who underwent newborn screening, 12 infants had passed; 3 had connexin-related hearing loss. There were no differences in newborn hearing screening pass rate, neonatal complication, or hearing loss severity between infants with and without connexin-related hearing loss. <a href="#50" class="mim-tip-reference" title="Schimmenti, L. A., Martinez, A., Telatar, M., Lai, C.-H., Shapiro, N., Fox, M., Warman, B., McCarra, M., Crandall, B., Sininger, Y., Grody, W. W., Palmer, C. G. S. <strong>Infant hearing loss and connexin testing in a diverse population.</strong> Genet. Med. 10: 517-524, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18580690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18580690</a>] [<a href="https://doi.org/10.1097/gim.0b013e31817708fa" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18580690">Schimmenti et al. (2008)</a> pointed out that not all infants with connexin-related hearing loss will fail newborn hearing screening. Family history correlates significantly with connexin-related hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18580690" 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>Direct genetic evidence for the existence of at least 2 nonallelic, recessive, phenotypically indistinguishable forms of congenital deafness was provided by the rather frequent pedigrees of the type reported by <a href="#54" class="mim-tip-reference" title="Stevenson, A. C., Cheeseman, E. A. <strong>Hereditary deaf mutism, with particular reference to Northern Ireland.</strong> Ann. Hum. Genet. 20: 177-231, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13292832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13292832</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1956.tb01367.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13292832">Stevenson and Cheeseman (1956)</a>. In only 5 of 32 hereditary deaf by hereditary deaf matings were all children deaf. From this, the authors concluded that there are probably 6 separate loci for recessive congenital deafness, assuming that the mutant genes at each have a similar frequency. See comments of <a href="#53" class="mim-tip-reference" title="Slatis, H. M. <strong>Comments on the inheritance of deaf mutism in Northern Ireland.</strong> Ann. Hum. Genet. 22: 153-157, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13509528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13509528</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1957.tb01930.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13509528">Slatis (1957)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13292832+13509528" 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="Chung, C. S., Robinson, O. W., Morton, N. E. <strong>A note on deaf mutism.</strong> Ann. Hum. Genet. 23: 357-366, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13810213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13810213</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1959.tb01479.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13810213">Chung et al. (1959)</a> also supported the notion of multiple recessive forms of congenital deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13810213" 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="Fraser, G. R. <strong>Profound childhood deafness.</strong> J. Med. Genet. 1: 118-151, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14234108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14234108</a>] [<a href="https://doi.org/10.1136/jmg.1.2.118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14234108">Fraser (1964)</a> estimated that half of severe childhood deafness was due to simple mendelian inheritance and that 87% of this group is autosomal recessive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14234108" 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>By ingenious mathematical analysis, <a href="#41" class="mim-tip-reference" title="Morton, N. E. <strong>The mutational load due to detrimental genes in man.</strong> Am. J. Hum. Genet. 12: 348-364, 1960.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14424476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14424476</a>]" pmid="14424476">Morton (1960)</a> concluded that recessive inheritance is responsible for 68% of congenital deafness, that homozygosity at any one of 35 loci can result in this phenotype and that 16% of the normal population are carriers of a gene for congenital deafness. See also <a href="#42" class="mim-tip-reference" title="Morton, N. E. <strong>Genetic epidemiology of hearing impairment.</strong> Ann. NY Acad. Sci. 630: 16-31, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1952587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1952587</a>] [<a href="https://doi.org/10.1111/j.1749-6632.1991.tb19572.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1952587">Morton (1991)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14424476+1952587" 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="#43" class="mim-tip-reference" title="Muhlmann, W. E. <strong>Ein ungewoehnlicher Stammbaum ueber Taubstummheit.</strong> Arch. Rassenbiol. 22: 181-183, 1930."None>Muhlmann (1930)</a> reported an instance in which 2 individuals with congenital deafness, clearly with autosomal recessive disease because in each case parents were consanguineous and a sib was also affected, married and produced only children with normal hearing.</p><p><a href="#38" class="mim-tip-reference" title="Mengel, M. C., Konigsmark, B. W., McKusick, V. A. <strong>Two types of congenital recessive deafness.</strong> Eye Ear Nose Throat Monthly 48: 301-305, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5779514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5779514</a>]" pmid="5779514">Mengel et al. (1969)</a> presented an instructive pedigree in which 2 congenitally deaf parents had all normal-hearing offspring. One parent came from a Mennonite group with numerous cases of congenital deafness in a recessive pattern. The other parent came from an Amish group which also contained several persons with apparently recessively inherited congenital deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5779514" 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="#35" class="mim-tip-reference" title="Majumder, P. P., Ramesh, A., Chinnappan, D. <strong>On the genetics of prelingual deafness.</strong> Am. J. Hum. Genet. 44: 86-99, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909169</a>]" pmid="2909169">Majumder et al. (1989)</a> studied the genetics of prelingual deafness in 133 nuclear families from 25 large pedigrees in India. Segregation analysis revealed a model for prelingual deafness suggestive of unlinked diallelic autosomal loci. Individuals were affected if and only if they were recessive homozygous at both loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2909169" 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 Israel, <a href="#8" class="mim-tip-reference" title="Brownstein, Z., Friedlander, Y., Peritz, E., Cohen, T. <strong>Estimated number of loci for autosomal recessive severe nerve deafness within the Israeli Jewish population, with implications for genetic counseling.</strong> Am. J. Med. Genet. 41: 306-312, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1789284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1789284</a>] [<a href="https://doi.org/10.1002/ajmg.1320410309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1789284">Brownstein et al. (1991)</a> studied families in which both parents had congenital deafness. Among 111 such couples in which the deafness was possibly recessive and there was at least 1 child, there were 12 with only deaf children and 5 with both deaf and hearing children. The number of loci for recessive deafness in the whole group was estimated to be 8 or 9. Matings within the same Jewish group (Sephardi, Eastern, or Ashkenazi) gave an estimate of 6.7 loci, whereas interethnic matings gave an estimate of 22 loci. A conclusion of the study for genetic counseling was that deaf spouses from different ethnic groups have a smaller risk for deaf children than those from the same ethnic group. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1789284" 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="#27" class="mim-tip-reference" title="Guilford, P., Ben Arab, S., Blanchard, S., Levilliers, J., Weissenbach, J., Belkahia, A., Petit, C. <strong>A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.</strong> Nature Genet. 6: 24-28, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8136828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8136828</a>] [<a href="https://doi.org/10.1038/ng0194-24" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8136828">Guilford et al. (1994)</a> performed linkage analyses using highly polymorphic microsatellite markers in 2 consanguineous families from Tunisia with profound prelingual deafness. A maximum 2-point lod score of 9.88 at theta = 0.01 was found with a marker on chromosome 13q (D13S175). Linkage was also observed with the pericentromeric 13q12 loci D13S115 and D13S143. (<a href="#27" class="mim-tip-reference" title="Guilford, P., Ben Arab, S., Blanchard, S., Levilliers, J., Weissenbach, J., Belkahia, A., Petit, C. <strong>A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.</strong> Nature Genet. 6: 24-28, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8136828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8136828</a>] [<a href="https://doi.org/10.1038/ng0194-24" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8136828">Guilford et al. (1994)</a> referred to this disorder as nonsyndromic recessive deafness and used the gene symbol NSRD1.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8136828" 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="#11" class="mim-tip-reference" title="Chaib, H., Lina-Granade, G., Guilford, P., Plauchu, H., Levilliers, J., Morgon, A., Petit, C. <strong>A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval.</strong> Hum. Molec. Genet. 3: 2219-2222, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7881423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7881423</a>] [<a href="https://doi.org/10.1093/hmg/3.12.2219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7881423">Chaib et al. (1994)</a> studied a family of French origin with an autosomal dominant form of neurosensory deafness. The deafness was moderate to severe, had a prelingual onset, and affected predominantly the high frequencies. By linkage analysis, they mapped the disorder to chromosome 13q (multipoint maximum lod score of 4.66 at D13S175). The findings suggested that different mutations in the candidate gene could cause either dominant or recessive neurosensory deafness. This situation, with dominant and recessive forms of the same disorder depending on the nature of the specific mutations, has been observed in epidermolysis bullosa dystrophica due to mutations in the COL7A1 gene (<a href="/entry/120120">120120</a>), in retinitis pigmentosa due to mutations in the rhodopsin gene (RHO; <a href="/entry/180380">180380</a>), and in myotonia congenita due to mutations in the CLCN1 gene (<a href="/entry/118425">118425</a>), to list only 3 examples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7881423" 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 linkage studies in 18 New Zealand and 1 Australian nonconsanguineous kindreds with nonsyndromic presumed congenital sensorineural deafness and a pedigree structure consistent with autosomal recessive inheritance, <a href="#36" class="mim-tip-reference" title="Maw, M. A., Allen-Powell, D. R., Goodey, R. J., Stewart, I. A., Nancarrow, D. J., Hayward, N. K., Gardner, R. J. M. <strong>The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population.</strong> Am. J. Hum. Genet. 57: 629-635, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7668291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7668291</a>]" pmid="7668291">Maw et al. (1995)</a> found linkage to markers D13S175, D13S143, and D13S115 on chromosome 13. The finding suggested that the DFNB1 locus may make an important contribution to autosomal recessive neurosensory deafness in a Caucasian population. While there was no statistically significant evidence for heterogeneity at any of the 3 marker loci tested, 9 of the 19 families showed cosegregation of marker haplotypes with deafness. In these 9 families, phenotypic variation was observed both within sibships (in 4 families), which indicated that variable expressivity characterized some genotypes at the DFNB1 locus, and between generations (in 2 families), which suggested allelic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7668291" 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="#51" class="mim-tip-reference" title="Scott, D. A., Carmi, R., Elbedour, K., Duyk, G. M., Stone, E. M., Sheffield, V. C. <strong>Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. (Letter)</strong> Am. J. Hum. Genet. 57: 965-968, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573061</a>]" pmid="7573061">Scott et al. (1995)</a> showed that nonsyndromic autosomal recessive deafness in a highly inbred Bedouin family was linked to chromosome 13q12. In 1 of 27 families of Pakistani origin with nonsyndromic recessive deafness, <a href="#7" class="mim-tip-reference" title="Brown, K. A., Janjua, A. H., Karbani, G., Parry, G., Noble, A., Crockford, G., Bishop, D. T., Newton, V. E., Markham, A. F., Mueller, R. F. <strong>Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175.</strong> Hum. Molec. Genet. 5: 169-173, 1996. Note: Erratum: Hum. Molec. Genet. 5: 710 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8789457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8789457</a>] [<a href="https://doi.org/10.1093/hmg/5.1.169" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8789457">Brown et al. (1996)</a> found linkage to the DFNB1 locus on chromosome 13. Haplotype analysis of markers in the pericentromeric region of 13q suggested a recombination event that mapped DFNB1 proximal to the marker D13S175 and in the vicinity of D13S143. In an erratum, the authors noted that further analysis placed D13S143 distal to D13S175 rather than proximal, and therefore the locus DFNB1 was likely to be located proximal to D13S143, as suggested by <a href="#51" class="mim-tip-reference" title="Scott, D. A., Carmi, R., Elbedour, K., Duyk, G. M., Stone, E. M., Sheffield, V. C. <strong>Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. (Letter)</strong> Am. J. Hum. Genet. 57: 965-968, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573061</a>]" pmid="7573061">Scott et al. (1995)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7573061+8789457" 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="Gasparini, P., Estivill, X., Volpini, V., Totaro, A., Castellvi-Bel, S., Govea, N., Mila, M., Della Monica, M., Ventruto, V., De Benedetto, M., Stanziale, P., Zelante, L., Mansfield, E. S., Sandkuijl, L., Surrey, S., Fortina, P. <strong>Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.</strong> Europ. J. Hum. Genet. 5: 83-88, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9195157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9195157</a>]" pmid="9195157">Gasparini et al. (1997)</a> performed a genetic linkage study with 4 microsatellite markers linked to DFNB1 in a total of 48 independent Mediterranean families, of which 30 and 18 were of Italian and Spanish descent, respectively. They concluded that DFNB1 played a role in 79% of Mediterranean families with nonsyndromic neurosensory autosomal recessive deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9195157" 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="#31" class="mim-tip-reference" title="Kelsell, D. P., Dunlop, J., Stevens, H. P., Lench, N. J., Liang, J. N., Parry, G., Mueller, R. F., Leigh, I. M. <strong>Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.</strong> Nature 387: 80-83, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9139825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9139825</a>] [<a href="https://doi.org/10.1038/387080a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9139825">Kelsell et al. (1997)</a> identified a homozygous mutation in the GJB2 gene (<a href="/entry/121011#0002">121011.0002</a>) in affected members of 3 families with autosomal recessive nonsyndromic sensorineural deafness linked to 13q11-q12 (<a href="#7" class="mim-tip-reference" title="Brown, K. A., Janjua, A. H., Karbani, G., Parry, G., Noble, A., Crockford, G., Bishop, D. T., Newton, V. E., Markham, A. F., Mueller, R. F. <strong>Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175.</strong> Hum. Molec. Genet. 5: 169-173, 1996. Note: Erratum: Hum. Molec. Genet. 5: 710 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8789457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8789457</a>] [<a href="https://doi.org/10.1093/hmg/5.1.169" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8789457">Brown et al., 1996</a>). By immunohistochemical staining, <a href="#31" class="mim-tip-reference" title="Kelsell, D. P., Dunlop, J., Stevens, H. P., Lench, N. J., Liang, J. N., Parry, G., Mueller, R. F., Leigh, I. M. <strong>Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.</strong> Nature 387: 80-83, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9139825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9139825</a>] [<a href="https://doi.org/10.1038/387080a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9139825">Kelsell et al. (1997)</a> demonstrated that CX26 has a high level of expression in human cochlear cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9139825+8789457" 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="#19" class="mim-tip-reference" title="Denoyelle, F., Marlin, S., Weil, D., Moatti, L., Chauvin, P., Garabedian, E.-N., Petit, C. <strong>Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.</strong> Lancet 353: 1298-1303, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10218527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10218527</a>] [<a href="https://doi.org/10.1016/S0140-6736(98)11071-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10218527">Denoyelle et al. (1999)</a> studied 140 children from 104 families with various degrees of sensorineural hearing loss. CX26 mutations were present in 43 (49%) of 88 families with prelingual deafness compared with none of the 16 families with postlingual forms of deafness. CX26-associated deafness varied from mild to profound, and was associated with sloping or flat audiometric curves and a radiologically normal inner ear. Hearing loss was not progressive in 11 of 16 cases tested, and variations in the severity of deafness between sibs were common. <a href="#19" class="mim-tip-reference" title="Denoyelle, F., Marlin, S., Weil, D., Moatti, L., Chauvin, P., Garabedian, E.-N., Petit, C. <strong>Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.</strong> Lancet 353: 1298-1303, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10218527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10218527</a>] [<a href="https://doi.org/10.1016/S0140-6736(98)11071-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10218527">Denoyelle et al. (1999)</a> suggested that an important element for genetic counseling is that the severity of hearing loss in DFNB1 is extremely variable and cannot be predicted, even within families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10218527" 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="#16" class="mim-tip-reference" title="Dahl, H.-H. M., Tobin, S. E., Poulakis, Z., Rickards, F. W., Xu, X., Gillam, L., Williams, J., Saunders, K., Cone-Wesson, B., Wake, M. <strong>The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.</strong> J. Med. Genet. 43: 850-855, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16840571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16840571</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16840571[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2006.042051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16840571">Dahl et al. (2006)</a> identified a homozygous mutation in the GJB2 gene (V37I; <a href="/entry/121011#0023">121011.0023</a>) in 4 (8.3%) of 48 Australian children with slight or mild sensorineural hearing loss. All 4 children were of Asian background, and SNP analysis suggested a common founder effect. All 4 children showed bilateral high-frequency sensorineural hearing loss, and 3 also had low-frequency hearing loss. Two additional children who were heterozygous for V37I had mild high-frequency loss maximal at 6kHz, and mild low-frequency loss, respectively. In all, 55 children with slight or mild hearing loss were identified in a screening of 6,240 Australian school children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16840571" 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="#56" class="mim-tip-reference" title="Tang, H.-Y., Fang, P., Ward, P. A., Schmitt, E., Darilek, S., Manolidis, S., Oghalai, J. S., Roa, B. B., Alford, R. L. <strong>DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.</strong> Am. J. Med. Genet. 140A: 2401-2415, 2006. Note: Erratum: Am. J. Med. Genet. 146A: 2979 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17041943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17041943</a>] [<a href="https://doi.org/10.1002/ajmg.a.31525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17041943">Tang et al. (2006)</a> analyzed the GJB2 gene in 610 hearing-impaired individuals and 294 controls and identified causative mutations in 10.3% of cases, with equivocal results in 1.8% of cases due to the detection of unclassified, novel, or controversial coding sequence variations or of only a single recessive mutation in GJB2. Thirteen sequence variations were identified in controls, and complex genotypes were observed among Asian controls, 47% of whom carried 2 to 4 sequence variations in the coding region of the GJB2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17041943" 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="Iossa, S., Chinetti, V., Corvino, V., Marciano, E., Franze, A. <strong>R75Q dominant mutation in GJB2 gene silenced by the in cis recessive mutation c.35delG. (Letter)</strong> Am. J. Med. Genet. 152A: 2658-2660, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20815033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20815033</a>] [<a href="https://doi.org/10.1002/ajmg.a.33630" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20815033">Iossa et al. (2010)</a> reported an Italian family in which an unaffected mother and 1 of her deaf sons were both heterozygous for an allele carrying 2 GJB2 mutations in cis: the dominant R75Q (<a href="/entry/121011#0026">121011.0026</a>) and the recessive 35delG (<a href="/entry/121011#0005">121011.0005</a>), whereas her other deaf son did not carry either of these mutations. The results suggested that the recessive mutation 'canceled out' the effect of the dominant mutation by causing a truncated protein before reaching residue 75. <a href="#29" class="mim-tip-reference" title="Iossa, S., Chinetti, V., Corvino, V., Marciano, E., Franze, A. <strong>R75Q dominant mutation in GJB2 gene silenced by the in cis recessive mutation c.35delG. (Letter)</strong> Am. J. Med. Genet. 152A: 2658-2660, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20815033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20815033</a>] [<a href="https://doi.org/10.1002/ajmg.a.33630" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20815033">Iossa et al. (2010)</a> suggested that deafness in the 2 sons was due to another genetic cause and highlighted the importance of the report for genetic counseling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20815033" 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><strong><em>Deafness, Digenic, GJB2/GJB6</em></strong></p><p>
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<a href="#18" class="mim-tip-reference" title="del Castillo, I., Villamar, M., Moreno-Pelayo, M. A., del Castillo, F. J., Alvarez, A., Telleria, D., Menendez, I., Moreno, F. <strong>A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.</strong> New Eng. J. Med. 346: 243-249, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11807148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11807148</a>] [<a href="https://doi.org/10.1056/NEJMoa012052" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11807148">Del Castillo et al. (2002)</a> noted that in many patients (10-42%) with autosomal recessive nonsyndromic deafness who were found to have a mutation in the GJB2 gene, the second mutation remained unidentified. They demonstrated that 22 of 33 unrelated such patients, 9 of whom had evidence of linkage to 13q12, were double heterozygous for a mutation in the GJB2 gene (35delG; <a href="/entry/121011#0005">121011.0005</a>) and a deletion in the GJB6 gene (<a href="/entry/604418#0004">604418.0004</a>). Two subjects were homozygous for the GJB6 mutation. In the Spanish population, the GJB6 deletion was the second most frequent mutation causing prelingual deafness. The authors concluded that mutations in the GJB2 and GJB6 gene can result in a monogenic or digenic pattern of inheritance of prelingual deafness. <a href="#18" class="mim-tip-reference" title="del Castillo, I., Villamar, M., Moreno-Pelayo, M. A., del Castillo, F. J., Alvarez, A., Telleria, D., Menendez, I., Moreno, F. <strong>A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.</strong> New Eng. J. Med. 346: 243-249, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11807148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11807148</a>] [<a href="https://doi.org/10.1056/NEJMoa012052" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11807148">Del Castillo et al. (2002)</a> reported the deletion as 342 kb, but <a href="#17" class="mim-tip-reference" title="del Castillo, F. J., Rodriguez-Ballesteros, M., Alvarez, A., Hutchin, T., Leonardi, E., de Oliveira, C. A., Azaiez, H., Brownstein, Z., Avenarius, M. R., Marlin, S., Pandya, A., Shahin, H., and 18 others. <strong>A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. (Letter)</strong> J. Med. Genet. 42: 588-594, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15994881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15994881</a>] [<a href="https://doi.org/10.1136/jmg.2004.028324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15994881">Del Castillo et al. (2005)</a> stated that more recent sequencing data indicated that the deletion is 309 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11807148+15994881" 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="#47" class="mim-tip-reference" title="Pallares-Ruiz, N., Blanchet, P., Mondain, M., Claustres, M., Roux, A.-F. <strong>A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?</strong> Europ. J. Hum. Genet. 10: 72-76, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11896458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11896458</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11896458">Pallares-Ruiz et al. (2002)</a> found a deletion in the GJB6 gene in trans in 4 of 6 deafness patients heterozygous for a GJB2 mutation, suggesting a digenic mode of inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11896458" 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 4 unrelated Spanish patients with autosomal recessive nonsyndromic hearing impairment who were heterozygous for 1 GJB2 mutant allele and did not carry the GJB6 309-kb deletion, <a href="#17" class="mim-tip-reference" title="del Castillo, F. J., Rodriguez-Ballesteros, M., Alvarez, A., Hutchin, T., Leonardi, E., de Oliveira, C. A., Azaiez, H., Brownstein, Z., Avenarius, M. R., Marlin, S., Pandya, A., Shahin, H., and 18 others. <strong>A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. (Letter)</strong> J. Med. Genet. 42: 588-594, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15994881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15994881</a>] [<a href="https://doi.org/10.1136/jmg.2004.028324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15994881">del Castillo et al. (2005)</a> identified a GJB6 232-kb deletion, which they referred to as del(GJB6-D13S1854) (see <a href="/entry/604418#0006">604418.0006</a>). The deletion was subsequently found in DFNB1 patients in the United Kingdom, Brazil, and northern Italy; haplotype analysis revealed a common founder shared among chromosomes studied from Spain, the United Kingdom, and Italy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15994881" 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 255 French patients with a phenotype compatible with DFNB1, <a href="#23" class="mim-tip-reference" title="Feldmann, D., Denoyelle, F., Chauvin, P., Garabedian, E.-N., Couderc, R., Odent, S., Joannard, A., Schmerber, S., Delobel, B., Leman, J., Journel, H., Catros, H., and 20 others. <strong>Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.</strong> Am. J. Med. Genet. 127A: 263-267, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15150777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15150777</a>] [<a href="https://doi.org/10.1002/ajmg.a.20588" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15150777">Feldmann et al. (2004)</a> found that 32% had biallelic GJB2 mutations, and 6% were double heterozygous for a GJB2 mutation and the GJB6 342-kb deletion. Profoundly deaf children were more likely to have the biallelic GJB2 or digenic GJB2/GJB6 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15150777" 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 777 unrelated children with hearing loss, <a href="#12" class="mim-tip-reference" title="Cheng, X., Li, L., Brashears, S., Morlet, T., Ng, S. S., Berlin, C., Hood, L., Keats, B. <strong>Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.</strong> Am. J. Med. Genet. 139A: 13-18, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16222667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16222667</a>] [<a href="https://doi.org/10.1002/ajmg.a.30929" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16222667">Cheng et al. (2005)</a> identified GJB2 or GJB6 mutations in 12%; among those with an affected sib, 20% had GJB2 or GJB6 mutations. Ten patients were double heterozygous for mutations in the GJB2 and GJB6 genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16222667" 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 324 probands with hearing loss and 280 controls, including 135 probands and 280 controls previously reported by <a href="#56" class="mim-tip-reference" title="Tang, H.-Y., Fang, P., Ward, P. A., Schmitt, E., Darilek, S., Manolidis, S., Oghalai, J. S., Roa, B. B., Alford, R. L. <strong>DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.</strong> Am. J. Med. Genet. 140A: 2401-2415, 2006. Note: Erratum: Am. J. Med. Genet. 146A: 2979 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17041943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17041943</a>] [<a href="https://doi.org/10.1002/ajmg.a.31525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17041943">Tang et al. (2006)</a>, <a href="#55" class="mim-tip-reference" title="Tang, H.-Y., Basehore, M. J., Blakey, G. L., Darilek, S., Oghalai, J. S., Roa, B. B., Fang, P., Alford, R. L. <strong>Infrequency of two deletion mutations at the DFNB1 locus in patients and controls.</strong> Am. J. Med. Genet. 146A: 934-936, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18324688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18324688</a>] [<a href="https://doi.org/10.1002/ajmg.a.32207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18324688">Tang et al. (2008)</a> screened for DNA sequence variations in GJB2 and for deletions in GJB6. The 232-kb GJB6 deletion was not found, and the 309-kb GJB6 deletion was found only once, in a patient of unknown ethnicity who was also heterozygous for a truncating mutation in GJB2. <a href="#55" class="mim-tip-reference" title="Tang, H.-Y., Basehore, M. J., Blakey, G. L., Darilek, S., Oghalai, J. S., Roa, B. B., Fang, P., Alford, R. L. <strong>Infrequency of two deletion mutations at the DFNB1 locus in patients and controls.</strong> Am. J. Med. Genet. 146A: 934-936, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18324688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18324688</a>] [<a href="https://doi.org/10.1002/ajmg.a.32207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18324688">Tang et al. (2008)</a> suggested that the 232- and 309-kb deletions in the GJB6 gene may not be common in all populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18324688+17041943" 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><strong><em>Deafness, Digenic, GJB2/GJB3</em></strong></p><p>
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<a href="#34" class="mim-tip-reference" title="Liu, X.-Z., Yuan, Y., Yan, D., Ding, E. H., Ouyang, X. M., Fei, Y., Tang, W., Yuan, H., Chang, Q., Du, L. L., Zhang, X., Wang, G., Ahmad, S., Kang, D. Y., Lin, X., Dai, P. <strong>Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.</strong> Hum. Genet. 125: 53-62, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19050930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19050930</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19050930[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/10.1007/s00439-008-0602-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19050930">Liu et al. (2009)</a> reported digenic inheritance of nonsyndromic deafness caused by mutations in the GJB2 and GJB3 (<a href="/entry/603324">603324</a>) genes. Three of 108 Chinese probands with autosomal recessive deafness and only 1 mutant GJB2 allele (e.g., <a href="/entry/121011#0014">121011.0014</a>) were found to be double heterozygous with a GJB3 mutation (<a href="/entry/603324#0011">603324.0011</a>; <a href="/entry/603324#0012">603324.0012</a>). The findings were consistent with digenic inheritance; the unaffected parents were heterozygous for 1 of the mutant alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19050930" 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><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between hearing loss and variation in the C10ORF90 gene, see <a href="/entry/617735">617735</a>.</p><p>For discussion of a possible association between hearing loss and variation in the CEP250 gene, see <a href="/entry/609689">609689</a>.</p><p>For discussion of a possible association between hearing loss and variation in the LRP5 gene, see <a href="/entry/603506">603506</a>.</p><p><strong><em>Reviews</em></strong></p><p>
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<a href="#58" class="mim-tip-reference" title="Willems, P. J. <strong>Genetic causes of hearing loss.</strong> New Eng. J. Med. 342: 1101-1109, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10760311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10760311</a>] [<a href="https://doi.org/10.1056/NEJM200004133421506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10760311">Willems (2000)</a> reviewed the genetic causes of nonsyndromic sensorineural hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10760311" 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="#49" class="mim-tip-reference" title="Petersen, M. B., Willems, P. J. <strong>Non-syndromic, autosomal-recessive deafness.</strong> Clin. Genet. 69: 371-392, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16650073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16650073</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00613.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16650073">Petersen and Willems (2006)</a> provided a detailed review of the molecular genetics of nonsyndromic autosomal recessive deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16650073" 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 Tunisia, <a href="#5" class="mim-tip-reference" title="Ben Arab, S., Bonaiti-Pellie, C., Belkahia, A. <strong>An epidemiological and genetic study of congenital profound deafness in Tunisia (governorate of Nabeul).</strong> J. Med. Genet. 27: 29-33, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2308153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2308153</a>] [<a href="https://doi.org/10.1136/jmg.27.1.29" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2308153">Ben Arab et al. (1990)</a> estimated the frequency of nonsyndromic autosomal recessive sensorineural deafness to be 7 per 10,000. <a href="#10" class="mim-tip-reference" title="Chaabani, H., Ben Arab, S., Chebbi, K. <strong>Genetic heterogeneity study of non-syndromic autosomal recessive sensorineural deafness within the Tunisian population.</strong> Ann. Genet. 38: 158-161, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8540687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8540687</a>]" pmid="8540687">Chaabani et al. (1995)</a> studied 30 deaf couples in Tunisian and estimated that the number of loci for nonsyndromic autosomal recessive deafness in this population was 8.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8540687+2308153" 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="#45" class="mim-tip-reference" title="Nance, W. E., Liu, X.-Z., Pandya, A. <strong>Relation between choice of partner and high frequency of connexin-26 deafness.</strong> Lancet 356: 500-501, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10981905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10981905</a>] [<a href="https://doi.org/10.1016/S0140-6736(00)02565-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10981905">Nance et al. (2000)</a> proposed a hypothesis for the high frequency of DFNB1 in many large populations of the world, on the basis of an analysis of the proportion of noncomplementary marriages among the deaf during the 19th century, which suggested that the frequency of DFNB1 may have doubled in the United States during the past 200 years. These so-called noncomplementary marriages between individuals with the same type of recessive deafness are incapable of producing hearing offspring, and the square root of their frequency among deaf marriages provides an upper limit for the prevalence of the most common form of recessive deafness at that time. To explain the increase, they suggested that the combination of intense assortative mating and relaxed selection increased both the gene and the phenotype frequencies for DFNB1. The proposed model assumed that in previous millennia the genetic fitness of individuals with profound congenital deafness was very low and that genes for deafness were then in a mutational equilibrium. The introduction of sign language in Europe in the 17th to 18th centuries was a key event that dramatically improved the social and economic circumstances of the deaf, along with their genetic fitness. In many countries, schools for the deaf were established, contributing to the onset of intense linguistic homogamy, i.e., mate selection based on the ability to communicate in sign language. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10981905" 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 some large populations, connexin-26 deafness has been observed but at a much lower frequency. In Mongolia, for example, where there is only 1 residential school for the deaf, sign language was not introduced until 1995. Moreover, the fitness of the deaf is much lower than that of their hearing sibs, assortative mating is much less frequent than in the United States, and connexin mutations account for only 1.3% of all deafness (<a href="#48" class="mim-tip-reference" title="Pandya, A., Xia, X. J., Erdenetungalag, R., Tekin, M., White, T. W., Radnaabazar, J., Dangaasuren, B., Nance, W. E. <strong>Low frequency and unique spectrum of connexin 26 (Cx26) mutations in Mongolia: role of relaxed selection and assortative mating. (Abstract)</strong> Am. J. Hum. Genet. 69 (suppl.): 590 only, 2001."None>Pandya et al., 2001</a>).</p><p><a href="#44" class="mim-tip-reference" title="Nance, W. E., Kearsey, M. J. <strong>Relevance of connexin deafness (DFNB1) to human evolution.</strong> Am. J. Hum. Genet. 74: 1081-1087, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15079193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15079193</a>] [<a href="https://doi.org/10.1086/420979" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15079193">Nance and Kearsey (2004)</a> showed by computer simulation that assortative mating, in fact, can accelerate dramatically the genetic response to relaxed selection. Along with the effects of gene drift and consanguinity, assortative mating also may have played a key role in the joint evolution and accelerated fixation of genes for speech after they first appeared in Homo sapiens 100,000 to 150,000 years ago. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15079193" 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 156 unrelated congenitally deaf Czech patients, <a href="#52" class="mim-tip-reference" title="Seeman, P., Malikova, M., Raskova, D., Bendova, O., Groh, D., Kubalkova, M., Sakmaryova, I., Seemanova, E., Kabelka, Z. <strong>Spectrum and frequencies of mutations in GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness.</strong> Clin. Genet. 66: 152-157, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15253766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15253766</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2004.00283.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15253766">Seeman et al. (2004)</a> tested for the presence of mutations in the coding sequence of the GJB2 gene. At least 1 pathogenic mutation was detected in 48.1% of patients. The 3 most common mutations were W24X (<a href="/entry/121011#0003">121011.0003</a>), 35delG (<a href="/entry/121011#0005">121011.0005</a>), and 313del14 (<a href="/entry/121011#0034">121011.0034</a>); the authors stated that testing for only these 3 mutations would detect over 96% of all disease-causing mutations in GJB2 in this population. Testing for 35delG in 503 controls revealed a carrier frequency of 1:29.6 (3.4%) in the Czech Republic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15253766" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Alvarez, A., del Castillo, I., Villamar, M., Aguirre, L. A., Gonzalez-Neira, A., Lopez-Nevot, A., Moreno-Pelayo, M. A., Moreno, F. <strong>High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.</strong> Am. J. Med. Genet. 137A: 255-258, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16088916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16088916</a>] [<a href="https://doi.org/10.1002/ajmg.a.30884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16088916">Alvarez et al. (2005)</a> screened the GJB2 gene in 34 Spanish Romani (gypsy) families with autosomal recessive nonsyndromic hearing loss and found mutations in 50%. The predominant allele was W24X (<a href="/entry/121011#0003">121011.0003</a>), accounting for 79% of DFNB1 alleles. Haplotype analysis suggested that a founder effect is responsible for the high prevalence of this mutation among Spanish gypsies. 35delG (<a href="/entry/121011#0005">121011.0005</a>) was the second most common allele (17%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16088916" 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="#2" class="mim-tip-reference" title="Arnos, K. S., Welch, K. O., Tekin, M., Norris, V. W., Blanton, S. H., Pandya, A., Nance, W. E. <strong>A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart.</strong> Am. J. Hum. Genet. 83: 200-207, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18656178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18656178</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18656178">Arnos et al. (2008)</a> collected pedigree data on 311 contemporary marriages among deaf individuals that were comparable to those collected by <a href="#22" class="mim-tip-reference" title="Fay, E. A. <strong>Marriages of the Deaf in America.</strong> Washington, DC: Volta-Bureau 1898."None>Fay (1898)</a>. Segregation analysis of the resulting data revealed that the estimated proportion of noncomplementary matings that can produce only deaf children increased by a factor of more than 5 in the aforegoing 100 years. Additional analysis within their sample of contemporary pedigrees showed that there was a statistically significant linear increase in the prevalence of pathologic GJB2 mutations when the data on 441 probands were partitioned into three 20-year birth cohorts (1920-1980). <a href="#2" class="mim-tip-reference" title="Arnos, K. S., Welch, K. O., Tekin, M., Norris, V. W., Blanton, S. H., Pandya, A., Nance, W. E. <strong>A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart.</strong> Am. J. Hum. Genet. 83: 200-207, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18656178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18656178</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18656178">Arnos et al. (2008)</a> concluded that their data were consistent with the increase in the frequency of DFNB1 predicted by their previous simulation studies, and provided convincing evidence for the important influence that assortative mating can have on the frequency of common genes for deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18656178" 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="#50" class="mim-tip-reference" title="Schimmenti, L. A., Martinez, A., Telatar, M., Lai, C.-H., Shapiro, N., Fox, M., Warman, B., McCarra, M., Crandall, B., Sininger, Y., Grody, W. W., Palmer, C. G. S. <strong>Infant hearing loss and connexin testing in a diverse population.</strong> Genet. Med. 10: 517-524, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18580690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18580690</a>] [<a href="https://doi.org/10.1097/gim.0b013e31817708fa" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18580690">Schimmenti et al. (2008)</a> enrolled 95 infants with hearing loss from whom both exons of Cx26 were sequenced and the Cx30 deletion was assayed in a study comparing infants with and without connexin-related hearing loss. Overall among these 95 patients, biallelic mutations were identified in 24.7%, but in only 9.1% of infants of Hispanic origin. <a href="#50" class="mim-tip-reference" title="Schimmenti, L. A., Martinez, A., Telatar, M., Lai, C.-H., Shapiro, N., Fox, M., Warman, B., McCarra, M., Crandall, B., Sininger, Y., Grody, W. W., Palmer, C. G. S. <strong>Infant hearing loss and connexin testing in a diverse population.</strong> Genet. Med. 10: 517-524, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18580690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18580690</a>] [<a href="https://doi.org/10.1097/gim.0b013e31817708fa" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18580690">Schimmenti et al. (2008)</a> concluded that connexin-related hearing loss occurs in one quarter of infants in an ethnically diverse hearing loss population but with a lower prevalence in Hispanic infants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18580690" 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="#57" class="mim-tip-reference" title="Tekin, M., Xia, X.-J., Erdenetungalag, R., Cengiz, F. B., White, T. W., Radnaabazar, J., Dangaasuren, B., Tastan, H., Nance, W. E., Pandya, A. <strong>GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.</strong> Ann. Hum. Genet. 74: 155-164, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20201936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20201936</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20201936[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/10.1111/j.1469-1809.2010.00564.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20201936">Tekin et al. (2010)</a> screened the GJB2 gene in 534 Mongolian probands with nonsyndromic sensorineural deafness and identified biallelic GJB2 mutations in 23 (4.5%) deaf probands. The most common mutation, IVS1+1G-A (<a href="/entry/121011#0029">121011.0029</a>), appeared to have diverse origins based on multiple associated haplotypes. <a href="#57" class="mim-tip-reference" title="Tekin, M., Xia, X.-J., Erdenetungalag, R., Cengiz, F. B., White, T. W., Radnaabazar, J., Dangaasuren, B., Tastan, H., Nance, W. E., Pandya, A. <strong>GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.</strong> Ann. Hum. Genet. 74: 155-164, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20201936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20201936</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20201936[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/10.1111/j.1469-1809.2010.00564.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20201936">Tekin et al. (2010)</a> stated that they found a lower frequency of assortative mating (37.5%) and decreased genetic fitness (62%) of the deaf in Mongolia compared to Western populations, which explained the lower frequency of GJB2 deafness in Mongolia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20201936" 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="#3" class="mim-tip-reference" title="Barashkov, N. A., Dzhemileva, L. U., Fedorova, S. A., Teryutin, F. M., Posukh, O. L., Fedotova, E. E., Lobov, S. L., Khusnutdinova, E. K. <strong>Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G-A in GJB2 gene as a result of founder effect.</strong> J. Hum. Genet. 56: 631-639, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21776002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21776002</a>] [<a href="https://doi.org/10.1038/jhg.2011.72" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21776002">Barashkov et al. (2011)</a> found homozygosity for the IVS1+1G-A mutation in GJB2 in 70 of 86 patients from the Yakut population isolate in eastern Siberia with nonsyndromic hearing impairment. Six patients were compound heterozygous for this mutation and another pathogenic GJB2 mutation. Audiometric examination was performed on 40 patients who were homozygous for the mutation. Most (85%) had severe to profound hearing impairment, 14% had moderate impairment, and 1% had mild hearing loss. There was some variability in hearing thresholds. The carrier frequency for this mutation in this population was estimated to be 11.7%, the highest among 6 eastern Siberian populations analyzed, and the mutation was estimated to be about 800 years old. The findings were consistent with a founder effect, and <a href="#3" class="mim-tip-reference" title="Barashkov, N. A., Dzhemileva, L. U., Fedorova, S. A., Teryutin, F. M., Posukh, O. L., Fedotova, E. E., Lobov, S. L., Khusnutdinova, E. K. <strong>Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G-A in GJB2 gene as a result of founder effect.</strong> J. Hum. Genet. 56: 631-639, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21776002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21776002</a>] [<a href="https://doi.org/10.1038/jhg.2011.72" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21776002">Barashkov et al. (2011)</a> postulated a central Asian origin for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21776002" 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>Among 15,799 ethnically diverse individuals screened for DFNB1 carrier status, <a href="#32" class="mim-tip-reference" title="Lazarin, G. A., Haque, I. S., Nazareth, S., Iori, K., Patterson, A. S., Jacobson, J. L., Marshall, J. R., Seltzer, W. K., Patrizio, P., Evans, E. A., Srinivasan, B. S. <strong>An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.</strong> Genet. Med. 15: 178-186, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22975760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22975760</a>] [<a href="https://doi.org/10.1038/gim.2012.114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22975760">Lazarin et al. (2013)</a> identified 371 carriers (2.3%), for an estimated carrier frequency of approximately 1 in 43. Five 'carrier couples' were identified. Six individuals were identified as homozygotes or compound heterozygotes. Among 756 individuals of east Asian origin, the carrier frequency was 1 in 22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22975760" 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 6 Guatemalan probands with DFNB1A, <a href="#9" class="mim-tip-reference" title="Carranza, C., Menendez, I., Herrera, M., Castellanos, P., Amado, C., Maldonado, F., Rosales, L., Escobar, N., Guerra, M., Alvarez, D., Foster, J., II, Guo, S., Blanton, S. H., Bademci, G., Tekin, M. <strong>A Mayan founder mutation is a common cause of deafness in Guatemala.</strong> Clin. Genet. 89: 461-465, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26346709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26346709</a>] [<a href="https://doi.org/10.1111/cge.12676" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26346709">Carranza et al. (2016)</a> identified a homozygous truncating mutation in the GJB1 gene (W44X; <a href="/entry/121011#0040">121011.0040</a>). Two additional probands with deafness were compound heterozygous for the W44X mutation and another pathogenic mutation. The patients were from a cohort of 133 Guatemalan families with hearing loss who underwent sequencing of the GJB1 gene. The W44X mutation was the most common GJB1 pathogenic variant identified, accounting for 21 of 266 alleles, and 62% of the mutant GJB1 alleles identified. Haplotype analysis indicated a founder effect in this population, and ancestry analysis of individuals with this pathogenic variant showed a close match with Mayans. The W44X mutation always occurred with a benign c.79G-A variant (V27I) in the GJB1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26346709" 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 the pre-mendelian era, Meniere (<a href="#39" class="mim-tip-reference" title="Meniere, P. <strong>Recherches sur l'origine de la surdi-mutite.</strong> Gaz. Med. Paris (ser. 3): 223 only, 1846."None>1846</a>, <a href="#40" class="mim-tip-reference" title="Meniere, P. <strong>Du mariage entres parents considere comme cause de la surdi-mutite congenitale.</strong> Gaz. Med. Paris (ser. 3): 303 only, 1856."None>1856</a>) noted the role of parental consanguinity in deafness. <a href="#6" class="mim-tip-reference" title="Boudin, M. <strong>De la necessite des croisements et du danger des unions consanguine dans l'espece humaine et parmi les animaux.</strong> Rec. Med. Chir. Pharm. Milit. 7: 193-197, 1862."None>Boudin (1862)</a> noted the association between consanguinity and congenital deafness.</p><p><a href="#26" class="mim-tip-reference" title="Groce, N. E. <strong>Everyone Here Spoke Sign Language: Hereditary Deafness on Martha's Vineyard.</strong> Cambridge, Mass.: Harvard Univ. Press (pub.) 1985."None>Groce (1985)</a> traced the history of congenital deafness on Martha's Vineyard, the Massachusetts island. The first deaf person moved to the island in 1694. <a href="#26" class="mim-tip-reference" title="Groce, N. E. <strong>Everyone Here Spoke Sign Language: Hereditary Deafness on Martha's Vineyard.</strong> Cambridge, Mass.: Harvard Univ. Press (pub.) 1985."None>Groce (1985)</a> estimated that in the 19th century 1 in 155 persons on the island was born deaf. Because there were deaf members in virtually every family in the western part of the island, everyone learned sign language, and the deaf were fully integrated into every aspect of life. Under these circumstances, deafness was not a disability or a handicap.</p><p><a href="#37" class="mim-tip-reference" title="Mengel, M. C., Konigsmark, B. W., Berlin, C. I., McKusick, V. A. <strong>Recessive early-onset neural deafness.</strong> Acta Otolaryng. 64: 313-326, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6077778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6077778</a>] [<a href="https://doi.org/10.3109/00016486709139119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6077778">Mengel et al. (1967)</a> found severe deafness in 16 members of a kindred. By history, all were born with at least some hearing but suffered progressive severe loss in later childhood. Sonographic and speech analysis gave further evidence of some hearing in early childhood. Audiologic tests suggested cochlear location of the defect. Although successive generations were affected in some instances, consanguinity and recessive inheritance were thought to account for the finding. <a href="#4" class="mim-tip-reference" title="Barr, B., Wedenberg, E. <strong>Prognosis of perceptive hearing loss in children with respect to genesis and use of hearing aid.</strong> Acta Otolaryng. 59: 462-474, 1964."None>Barr and Wedenberg (1964)</a> described a similar disorder in 4 of 7 sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6077778" 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>Among the 11 children of consanguineous parents, <a href="#15" class="mim-tip-reference" title="Cremers, C. W. R. J. <strong>Autosomal recessive non-syndromal progressive sensorineural deafness in childhood: a separate clinical entity.</strong> Int. J. Pediat. Otorhinolaryng. 1: 193-199, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/552379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">552379</a>] [<a href="https://doi.org/10.1016/0165-5876(79)90013-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="552379">Cremers (1979)</a> observed 2 boys and a girl with progressive sensorineural deafness, first noticed at ages 4, 7 and 11 years. He found 2 reports of a similar deafness and concluded that it was different from the deafness reported by <a href="#37" class="mim-tip-reference" title="Mengel, M. C., Konigsmark, B. W., Berlin, C. I., McKusick, V. A. <strong>Recessive early-onset neural deafness.</strong> Acta Otolaryng. 64: 313-326, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6077778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6077778</a>] [<a href="https://doi.org/10.3109/00016486709139119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6077778">Mengel et al. (1967)</a>. A second family was reported by <a href="#14" class="mim-tip-reference" title="Cremers, C., van Rijn, P., ter Haar, B. <strong>Autosomal recessive progressive high-frequency sensorineural deafness in childhood.</strong> Arch. Otolaryng. Head Neck Surg. 113: 1319-1324, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3675899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3675899</a>] [<a href="https://doi.org/10.1001/archotol.1987.01860120065010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3675899">Cremers et al. (1987)</a>. Progressive sensorineural hearing loss started mainly in the higher frequencies. They also found an abrupt decline in the audiogram that slowly decreased with the increase of low frequency hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6077778+3675899+552379" 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="#46" class="mim-tip-reference" title="Ormerod, F. C. <strong>The pathology of congenital deafness.</strong> J. Laryng. 74: 919-950, 1960.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13731245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13731245</a>] [<a href="https://doi.org/10.1017/s0022215100057376" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13731245">Ormerod (1960)</a> recognized the following types of congenital deafness, beginning with the most complete form: (1) Michel type--complete lack of development of internal ear. (2) Mondini-Alexander type--development only of a single curved tube representing the cochlea, and similar immaturity of the vestibular canals. (3) Bing-Siebenmann type--bony labyrinth well formed but membranous part and particularly the sense organ poorly developed. This type is often associated with retinitis pigmentosa. (4) Scheibe cochleosaccular type--In this form, which is the most frequent one, the vestibular part is developed and functioning. Malformation is restricted to the membranous cochlea and saccule. This type occurs in Waardenburg syndrome. (5) Siebenmann type--changes mainly in middle ear and often due to thyroid hormone deficiency. The middle ear is involved in myxomatous change which may be embryonic persistence. (6) Microtia and atresia of the meatus--abnormality limited to the external ear. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13731245" 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="#Deraemaeker1960" class="mim-tip-reference" title="Deraemaeker, R. <strong>Recessive congenital deafness in a north Belgian province.</strong> Acta Genet. Statist. Med. 10: 295-304, 1960.">Deraemaeker (1960)</a>; <a href="#Hanhart1938" class="mim-tip-reference" title="Hanhart, E. <strong>Die 'sporadische' Taubstummheit als Prototyp einer einfach rezessiven Mutation.</strong> Z. Menschl. Vererb. Konstitutionsl. 21: 609-671, 1938.">Hanhart (1938)</a>; <a href="#Kabarity1981" class="mim-tip-reference" title="Kabarity, A., Al-Awadi, S. A., Farag, T. I., Mallalah, G. <strong>Autosomal recessive 'uncomplicated' profound childhood deafness in an Arabic family with high consanguinity.</strong> Hum. Genet. 57: 444-446, 1981.">Kabarity et al. (1981)</a>; <a href="#Lindenov1945" class="mim-tip-reference" title="Lindenov, H. <strong>The etiology of deaf-mutism with special reference to heredity.</strong> Op. Ex Domo Biol. Hered. Hum. U. Hafniensis 8: 1-268, 1945.">Lindenov
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Barashkov, N. A., Dzhemileva, L. U., Fedorova, S. A., Teryutin, F. M., Posukh, O. L., Fedotova, E. E., Lobov, S. L., Khusnutdinova, E. K.
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<strong>Prognosis of perceptive hearing loss in children with respect to genesis and use of hearing aid.</strong>
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Acta Otolaryng. 59: 462-474, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2308153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2308153</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2308153" 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="50" class="mim-anchor"></a>
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<a id="Schimmenti2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schimmenti, L. A., Martinez, A., Telatar, M., Lai, C.-H., Shapiro, N., Fox, M., Warman, B., McCarra, M., Crandall, B., Sininger, Y., Grody, W. W., Palmer, C. G. S.
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<strong>Infant hearing loss and connexin testing in a diverse population.</strong>
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Genet. Med. 10: 517-524, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18580690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18580690</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18580690" 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/10.1097/gim.0b013e31817708fa" target="_blank">Full Text</a>]
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<a id="51" class="mim-anchor"></a>
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<a id="Scott1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Scott, D. A., Carmi, R., Elbedour, K., Duyk, G. M., Stone, E. M., Sheffield, V. C.
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<strong>Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. (Letter)</strong>
|
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Am. J. Hum. Genet. 57: 965-968, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573061</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7573061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<li>
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<a id="52" class="mim-anchor"></a>
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<a id="Seeman2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Seeman, P., Malikova, M., Raskova, D., Bendova, O., Groh, D., Kubalkova, M., Sakmaryova, I., Seemanova, E., Kabelka, Z.
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<strong>Spectrum and frequencies of mutations in GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness.</strong>
|
|
Clin. Genet. 66: 152-157, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15253766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15253766</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15253766" 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.1399-0004.2004.00283.x" target="_blank">Full Text</a>]
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<a id="53" class="mim-anchor"></a>
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<a id="Slatis1957" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Slatis, H. M.
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<strong>Comments on the inheritance of deaf mutism in Northern Ireland.</strong>
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Ann. Hum. Genet. 22: 153-157, 1957.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13509528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13509528</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13509528" 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.1469-1809.1957.tb01930.x" target="_blank">Full Text</a>]
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<a id="54" class="mim-anchor"></a>
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<a id="Stevenson1956" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stevenson, A. C., Cheeseman, E. A.
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<strong>Hereditary deaf mutism, with particular reference to Northern Ireland.</strong>
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Ann. Hum. Genet. 20: 177-231, 1956.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13292832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13292832</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13292832" 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.1469-1809.1956.tb01367.x" target="_blank">Full Text</a>]
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<a id="55" class="mim-anchor"></a>
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<a id="Tang2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tang, H.-Y., Basehore, M. J., Blakey, G. L., Darilek, S., Oghalai, J. S., Roa, B. B., Fang, P., Alford, R. L.
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<strong>Infrequency of two deletion mutations at the DFNB1 locus in patients and controls.</strong>
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Am. J. Med. Genet. 146A: 934-936, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18324688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18324688</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18324688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32207" target="_blank">Full Text</a>]
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<a id="56" class="mim-anchor"></a>
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<a id="Tang2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tang, H.-Y., Fang, P., Ward, P. A., Schmitt, E., Darilek, S., Manolidis, S., Oghalai, J. S., Roa, B. B., Alford, R. L.
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<strong>DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.</strong>
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Am. J. Med. Genet. 140A: 2401-2415, 2006. Note: Erratum: Am. J. Med. Genet. 146A: 2979 only, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17041943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17041943</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17041943" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31525" target="_blank">Full Text</a>]
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<a id="57" class="mim-anchor"></a>
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<a id="Tekin2010" class="mim-anchor"></a>
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<div class="">
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Tekin, M., Xia, X.-J., Erdenetungalag, R., Cengiz, F. B., White, T. W., Radnaabazar, J., Dangaasuren, B., Tastan, H., Nance, W. E., Pandya, A.
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<strong>GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.</strong>
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Ann. Hum. Genet. 74: 155-164, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20201936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20201936</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20201936[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=20201936" 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.1469-1809.2010.00564.x" target="_blank">Full Text</a>]
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<a id="58" class="mim-anchor"></a>
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<a id="Willems2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Willems, P. J.
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<strong>Genetic causes of hearing loss.</strong>
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New Eng. J. Med. 342: 1101-1109, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10760311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10760311</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10760311" 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/10.1056/NEJM200004133421506" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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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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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 03/16/2023
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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 : 5/23/2016<br>Anne M. Stumpf - updated : 4/18/2013<br>Ada Hamosh - updated : 9/28/2012<br>Cassandra L. Kniffin - updated : 11/1/2011<br>Marla J. F. O'Neill - updated : 8/22/2011<br>Cassandra L. Kniffin - updated : 11/19/2010<br>Marla J. F. O'Neill - updated : 7/6/2010<br>Cassandra L. Kniffin - updated : 3/3/2009<br>Marla J. F. O'Neill - updated : 10/27/2008<br>Ada Hamosh - updated : 9/8/2008<br>Marla J. F. O'Neill - updated : 2/1/2007<br>Cassandra L. Kniffin - updated : 12/12/2006<br>Cassandra L. Kniffin - updated : 6/1/2006<br>Marla J. F. O'Neill - updated : 11/17/2005<br>Marla J. F. O'Neill - updated : 10/11/2005<br>Marla J. F. O'Neill - updated : 9/19/2005<br>Marla J. F. O'Neill - updated : 4/20/2005<br>Natalie E. Krasikov - updated : 11/2/2004<br>Victor A. McKusick - updated : 5/21/2004<br>Michael B. Petersen - updated : 4/30/2002<br>Victor A. McKusick - updated : 2/6/2002<br>Victor A. McKusick - updated : 5/25/2000<br>Victor A. McKusick - updated : 5/14/1999<br>Victor A. McKusick - updated : 9/9/1997<br>Victor A. McKusick - updated : 4/30/1997
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 7/27/1994
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/09/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 03/16/2023<br>carol : 05/28/2021<br>carol : 05/03/2021<br>carol : 10/14/2016<br>carol : 05/25/2016<br>ckniffin : 5/23/2016<br>carol : 5/16/2016<br>carol : 5/8/2015<br>alopez : 5/30/2013<br>alopez : 4/18/2013<br>alopez : 3/20/2013<br>ckniffin : 2/26/2013<br>alopez : 10/3/2012<br>terry : 9/28/2012<br>carol : 9/21/2012<br>carol : 11/1/2011<br>ckniffin : 11/1/2011<br>carol : 8/24/2011<br>terry : 8/22/2011<br>wwang : 12/22/2010<br>ckniffin : 11/19/2010<br>wwang : 7/8/2010<br>terry : 7/6/2010<br>ckniffin : 3/6/2009<br>carol : 3/6/2009<br>ckniffin : 3/3/2009<br>terry : 12/12/2008<br>wwang : 11/3/2008<br>terry : 10/27/2008<br>alopez : 9/16/2008<br>terry : 9/8/2008<br>carol : 1/31/2008<br>ckniffin : 10/26/2007<br>wwang : 2/1/2007<br>wwang : 12/14/2006<br>ckniffin : 12/12/2006<br>wwang : 6/12/2006<br>ckniffin : 6/1/2006<br>wwang : 11/21/2005<br>terry : 11/17/2005<br>wwang : 10/11/2005<br>wwang : 10/11/2005<br>terry : 9/19/2005<br>wwang : 6/15/2005<br>wwang : 4/28/2005<br>wwang : 4/25/2005<br>terry : 4/20/2005<br>carol : 11/2/2004<br>alopez : 10/11/2004<br>carol : 7/7/2004<br>alopez : 5/27/2004<br>terry : 5/21/2004<br>cwells : 5/2/2002<br>cwells : 4/30/2002<br>alopez : 2/6/2002<br>carol : 5/25/2000<br>mgross : 5/18/1999<br>terry : 5/14/1999<br>terry : 5/14/1999<br>dkim : 10/12/1998<br>alopez : 7/1/1998<br>alopez : 5/28/1998<br>terry : 9/9/1997<br>mark : 6/13/1997<br>mark : 5/5/1997<br>mark : 5/5/1997<br>alopez : 4/30/1997<br>terry : 4/29/1997<br>terry : 3/26/1996<br>mark : 2/14/1996<br>terry : 2/9/1996<br>mark : 2/5/1996<br>terry : 1/29/1996<br>mark : 10/19/1995<br>terry : 1/9/1995<br>carol : 9/1/1994<br>jason : 7/27/1994
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<span class="mim-font">
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<strong>#</strong> 220290
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<div>
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<h3>
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<span class="mim-font">
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DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
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<span class="mim-font">
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Other entities represented in this entry:
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<span class="h3 mim-font">
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DEAFNESS, DIGENIC, GJB2/GJB6, INCLUDED
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DEAFNESS, DIGENIC, GJB2/GJB3, INCLUDED
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<strong>ORPHA:</strong> 90636;
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<strong>DO:</strong> 0110475;
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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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1p34.3
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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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Deafness, digenic, GJB2/GJB3
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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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220290
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive; Digenic dominant
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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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GJB3
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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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603324
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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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13q12.11
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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, autosomal recessive 1A
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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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220290
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive; Digenic dominant
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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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GJB2
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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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121011
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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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13q12.11
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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, digenic GJB2/GJB6
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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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220290
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive; Digenic dominant
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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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GJB6
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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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604418
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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 of evidence that autosomal recessive deafness-1A (DFNB1A) is caused by homozygous or compound heterozygous mutation in the GJB2 gene (121011), which encodes the gap junction protein connexin-26 (CX26), on chromosome 13q12.</p><p>Autosomal dominant deafness-3A (DFNA3A; 601544) is an allelic disorder. See also DFNB1B (612645), which is caused by mutation in the GJB6 gene (604418) on chromosome 13q12.</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>Scott et al. (1995) studied a highly inbred Bedouin family with autosomal recessive deafness. The family belonged to a tribe founded approximately 200 years ago by an Arab-Bedouin male who emigrated from Egypt to the southern region of what was then Palestine. He married a local woman and had 7 children, 5 of whom survived to adulthood. Consanguineous marriage had been the rule in the tribe since its third generation. The tribe was then in its seventh generation and consisted of some 3,000 people, all of whom resided in a single geographic area in Israel that is separated from other Bedouin communities. Birth rates within the tribe were high, and polygamy was common. Within the past generation there had been 80 individuals with congenital deafness; all of the affected individuals were descendants of 2 of the 5 adult sons of the founder. The deafness was profound prelingual neurosensory hearing loss with drastically elevated audiometric thresholds at all frequencies. All deaf individuals had an otherwise normal phenotype with the absence of external ear abnormalities, retinopathy, or renal defects, and all were of normal intelligence. </p><p>Cheng et al. (2005) noted that 4% of 777 unrelated children with hearing loss had medical records that listed an environmental cause for the deafness, and that 11% of those with an unknown etiology were found to have GJB2/GJB6 mutations. Otoacoustic emissions testing to detect functional outer hair cells identified 76 children (10%) with positive emissions, consistent with auditory neuropathy. Five of the patients with auditory neuropathy were homozygous or compound heterozygous for mutations in the GJB2 gene. Cheng et al. (2005) suggested that lack of functional gap junctions due to GJB2 mutations does not necessarily destroy all outer hair cell function. </p><p>In a survey by Dodson et al. (2011), 127 (54%) of 235 respondents with DFNB1 due to mutations in the GJB2 and/or GJB6 genes reported vestibular dysfunction, compared to 25 (41%) of 61 deaf controls without DFNB1 deafness (p less than 0.03). Most of the DFNB1 patients with vertigo had to lie down for it to subside, and 48% reported that vertigo interfered with activities of daily living. Vertigo was reported by significantly more cases with truncating than nontruncating mutations and was also associated with a family history of dizziness. Dodson et al. (2011) concluded that vestibular dysfunction is more common in DFNB1 deafness than previously recognized. </p><p>Schimmenti et al. (2008) enrolled 95 infants with hearing loss from whom both exons of Cx26 were sequenced and the Cx30 deletion was assayed in a study comparing infants with and without connexin-related hearing loss. Among the 82 infants who underwent newborn screening, 12 infants had passed; 3 had connexin-related hearing loss. There were no differences in newborn hearing screening pass rate, neonatal complication, or hearing loss severity between infants with and without connexin-related hearing loss. Schimmenti et al. (2008) pointed out that not all infants with connexin-related hearing loss will fail newborn hearing screening. Family history correlates significantly with connexin-related hearing loss. </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>Inheritance</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>Direct genetic evidence for the existence of at least 2 nonallelic, recessive, phenotypically indistinguishable forms of congenital deafness was provided by the rather frequent pedigrees of the type reported by Stevenson and Cheeseman (1956). In only 5 of 32 hereditary deaf by hereditary deaf matings were all children deaf. From this, the authors concluded that there are probably 6 separate loci for recessive congenital deafness, assuming that the mutant genes at each have a similar frequency. See comments of Slatis (1957). </p><p>Chung et al. (1959) also supported the notion of multiple recessive forms of congenital deafness. </p><p>Fraser (1964) estimated that half of severe childhood deafness was due to simple mendelian inheritance and that 87% of this group is autosomal recessive. </p><p>By ingenious mathematical analysis, Morton (1960) concluded that recessive inheritance is responsible for 68% of congenital deafness, that homozygosity at any one of 35 loci can result in this phenotype and that 16% of the normal population are carriers of a gene for congenital deafness. See also Morton (1991). </p><p>Muhlmann (1930) reported an instance in which 2 individuals with congenital deafness, clearly with autosomal recessive disease because in each case parents were consanguineous and a sib was also affected, married and produced only children with normal hearing.</p><p>Mengel et al. (1969) presented an instructive pedigree in which 2 congenitally deaf parents had all normal-hearing offspring. One parent came from a Mennonite group with numerous cases of congenital deafness in a recessive pattern. The other parent came from an Amish group which also contained several persons with apparently recessively inherited congenital deafness. </p><p>Majumder et al. (1989) studied the genetics of prelingual deafness in 133 nuclear families from 25 large pedigrees in India. Segregation analysis revealed a model for prelingual deafness suggestive of unlinked diallelic autosomal loci. Individuals were affected if and only if they were recessive homozygous at both loci. </p><p>In Israel, Brownstein et al. (1991) studied families in which both parents had congenital deafness. Among 111 such couples in which the deafness was possibly recessive and there was at least 1 child, there were 12 with only deaf children and 5 with both deaf and hearing children. The number of loci for recessive deafness in the whole group was estimated to be 8 or 9. Matings within the same Jewish group (Sephardi, Eastern, or Ashkenazi) gave an estimate of 6.7 loci, whereas interethnic matings gave an estimate of 22 loci. A conclusion of the study for genetic counseling was that deaf spouses from different ethnic groups have a smaller risk for deaf children than those from the same ethnic group. </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>Guilford et al. (1994) performed linkage analyses using highly polymorphic microsatellite markers in 2 consanguineous families from Tunisia with profound prelingual deafness. A maximum 2-point lod score of 9.88 at theta = 0.01 was found with a marker on chromosome 13q (D13S175). Linkage was also observed with the pericentromeric 13q12 loci D13S115 and D13S143. (Guilford et al. (1994) referred to this disorder as nonsyndromic recessive deafness and used the gene symbol NSRD1.) </p><p>Chaib et al. (1994) studied a family of French origin with an autosomal dominant form of neurosensory deafness. The deafness was moderate to severe, had a prelingual onset, and affected predominantly the high frequencies. By linkage analysis, they mapped the disorder to chromosome 13q (multipoint maximum lod score of 4.66 at D13S175). The findings suggested that different mutations in the candidate gene could cause either dominant or recessive neurosensory deafness. This situation, with dominant and recessive forms of the same disorder depending on the nature of the specific mutations, has been observed in epidermolysis bullosa dystrophica due to mutations in the COL7A1 gene (120120), in retinitis pigmentosa due to mutations in the rhodopsin gene (RHO; 180380), and in myotonia congenita due to mutations in the CLCN1 gene (118425), to list only 3 examples. </p><p>From linkage studies in 18 New Zealand and 1 Australian nonconsanguineous kindreds with nonsyndromic presumed congenital sensorineural deafness and a pedigree structure consistent with autosomal recessive inheritance, Maw et al. (1995) found linkage to markers D13S175, D13S143, and D13S115 on chromosome 13. The finding suggested that the DFNB1 locus may make an important contribution to autosomal recessive neurosensory deafness in a Caucasian population. While there was no statistically significant evidence for heterogeneity at any of the 3 marker loci tested, 9 of the 19 families showed cosegregation of marker haplotypes with deafness. In these 9 families, phenotypic variation was observed both within sibships (in 4 families), which indicated that variable expressivity characterized some genotypes at the DFNB1 locus, and between generations (in 2 families), which suggested allelic heterogeneity. </p><p>Scott et al. (1995) showed that nonsyndromic autosomal recessive deafness in a highly inbred Bedouin family was linked to chromosome 13q12. In 1 of 27 families of Pakistani origin with nonsyndromic recessive deafness, Brown et al. (1996) found linkage to the DFNB1 locus on chromosome 13. Haplotype analysis of markers in the pericentromeric region of 13q suggested a recombination event that mapped DFNB1 proximal to the marker D13S175 and in the vicinity of D13S143. In an erratum, the authors noted that further analysis placed D13S143 distal to D13S175 rather than proximal, and therefore the locus DFNB1 was likely to be located proximal to D13S143, as suggested by Scott et al. (1995). </p><p>Gasparini et al. (1997) performed a genetic linkage study with 4 microsatellite markers linked to DFNB1 in a total of 48 independent Mediterranean families, of which 30 and 18 were of Italian and Spanish descent, respectively. They concluded that DFNB1 played a role in 79% of Mediterranean families with nonsyndromic neurosensory autosomal recessive deafness. </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>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">
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<p>Kelsell et al. (1997) identified a homozygous mutation in the GJB2 gene (121011.0002) in affected members of 3 families with autosomal recessive nonsyndromic sensorineural deafness linked to 13q11-q12 (Brown et al., 1996). By immunohistochemical staining, Kelsell et al. (1997) demonstrated that CX26 has a high level of expression in human cochlear cells. </p><p>Denoyelle et al. (1999) studied 140 children from 104 families with various degrees of sensorineural hearing loss. CX26 mutations were present in 43 (49%) of 88 families with prelingual deafness compared with none of the 16 families with postlingual forms of deafness. CX26-associated deafness varied from mild to profound, and was associated with sloping or flat audiometric curves and a radiologically normal inner ear. Hearing loss was not progressive in 11 of 16 cases tested, and variations in the severity of deafness between sibs were common. Denoyelle et al. (1999) suggested that an important element for genetic counseling is that the severity of hearing loss in DFNB1 is extremely variable and cannot be predicted, even within families. </p><p>Dahl et al. (2006) identified a homozygous mutation in the GJB2 gene (V37I; 121011.0023) in 4 (8.3%) of 48 Australian children with slight or mild sensorineural hearing loss. All 4 children were of Asian background, and SNP analysis suggested a common founder effect. All 4 children showed bilateral high-frequency sensorineural hearing loss, and 3 also had low-frequency hearing loss. Two additional children who were heterozygous for V37I had mild high-frequency loss maximal at 6kHz, and mild low-frequency loss, respectively. In all, 55 children with slight or mild hearing loss were identified in a screening of 6,240 Australian school children. </p><p>Tang et al. (2006) analyzed the GJB2 gene in 610 hearing-impaired individuals and 294 controls and identified causative mutations in 10.3% of cases, with equivocal results in 1.8% of cases due to the detection of unclassified, novel, or controversial coding sequence variations or of only a single recessive mutation in GJB2. Thirteen sequence variations were identified in controls, and complex genotypes were observed among Asian controls, 47% of whom carried 2 to 4 sequence variations in the coding region of the GJB2 gene. </p><p>Iossa et al. (2010) reported an Italian family in which an unaffected mother and 1 of her deaf sons were both heterozygous for an allele carrying 2 GJB2 mutations in cis: the dominant R75Q (121011.0026) and the recessive 35delG (121011.0005), whereas her other deaf son did not carry either of these mutations. The results suggested that the recessive mutation 'canceled out' the effect of the dominant mutation by causing a truncated protein before reaching residue 75. Iossa et al. (2010) suggested that deafness in the 2 sons was due to another genetic cause and highlighted the importance of the report for genetic counseling. </p><p><strong><em>Deafness, Digenic, GJB2/GJB6</em></strong></p><p>
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Del Castillo et al. (2002) noted that in many patients (10-42%) with autosomal recessive nonsyndromic deafness who were found to have a mutation in the GJB2 gene, the second mutation remained unidentified. They demonstrated that 22 of 33 unrelated such patients, 9 of whom had evidence of linkage to 13q12, were double heterozygous for a mutation in the GJB2 gene (35delG; 121011.0005) and a deletion in the GJB6 gene (604418.0004). Two subjects were homozygous for the GJB6 mutation. In the Spanish population, the GJB6 deletion was the second most frequent mutation causing prelingual deafness. The authors concluded that mutations in the GJB2 and GJB6 gene can result in a monogenic or digenic pattern of inheritance of prelingual deafness. Del Castillo et al. (2002) reported the deletion as 342 kb, but Del Castillo et al. (2005) stated that more recent sequencing data indicated that the deletion is 309 kb. </p><p>Pallares-Ruiz et al. (2002) found a deletion in the GJB6 gene in trans in 4 of 6 deafness patients heterozygous for a GJB2 mutation, suggesting a digenic mode of inheritance. </p><p>In 4 unrelated Spanish patients with autosomal recessive nonsyndromic hearing impairment who were heterozygous for 1 GJB2 mutant allele and did not carry the GJB6 309-kb deletion, del Castillo et al. (2005) identified a GJB6 232-kb deletion, which they referred to as del(GJB6-D13S1854) (see 604418.0006). The deletion was subsequently found in DFNB1 patients in the United Kingdom, Brazil, and northern Italy; haplotype analysis revealed a common founder shared among chromosomes studied from Spain, the United Kingdom, and Italy. </p><p>In 255 French patients with a phenotype compatible with DFNB1, Feldmann et al. (2004) found that 32% had biallelic GJB2 mutations, and 6% were double heterozygous for a GJB2 mutation and the GJB6 342-kb deletion. Profoundly deaf children were more likely to have the biallelic GJB2 or digenic GJB2/GJB6 mutations. </p><p>In a study of 777 unrelated children with hearing loss, Cheng et al. (2005) identified GJB2 or GJB6 mutations in 12%; among those with an affected sib, 20% had GJB2 or GJB6 mutations. Ten patients were double heterozygous for mutations in the GJB2 and GJB6 genes. </p><p>In 324 probands with hearing loss and 280 controls, including 135 probands and 280 controls previously reported by Tang et al. (2006), Tang et al. (2008) screened for DNA sequence variations in GJB2 and for deletions in GJB6. The 232-kb GJB6 deletion was not found, and the 309-kb GJB6 deletion was found only once, in a patient of unknown ethnicity who was also heterozygous for a truncating mutation in GJB2. Tang et al. (2008) suggested that the 232- and 309-kb deletions in the GJB6 gene may not be common in all populations. </p><p><strong><em>Deafness, Digenic, GJB2/GJB3</em></strong></p><p>
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Liu et al. (2009) reported digenic inheritance of nonsyndromic deafness caused by mutations in the GJB2 and GJB3 (603324) genes. Three of 108 Chinese probands with autosomal recessive deafness and only 1 mutant GJB2 allele (e.g., 121011.0014) were found to be double heterozygous with a GJB3 mutation (603324.0011; 603324.0012). The findings were consistent with digenic inheritance; the unaffected parents were heterozygous for 1 of the mutant alleles. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between hearing loss and variation in the C10ORF90 gene, see 617735.</p><p>For discussion of a possible association between hearing loss and variation in the CEP250 gene, see 609689.</p><p>For discussion of a possible association between hearing loss and variation in the LRP5 gene, see 603506.</p><p><strong><em>Reviews</em></strong></p><p>
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Willems (2000) reviewed the genetic causes of nonsyndromic sensorineural hearing loss. </p><p>Petersen and Willems (2006) provided a detailed review of the molecular genetics of nonsyndromic autosomal recessive deafness. </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>Population 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">
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<p>In Tunisia, Ben Arab et al. (1990) estimated the frequency of nonsyndromic autosomal recessive sensorineural deafness to be 7 per 10,000. Chaabani et al. (1995) studied 30 deaf couples in Tunisian and estimated that the number of loci for nonsyndromic autosomal recessive deafness in this population was 8.3. </p><p>Nance et al. (2000) proposed a hypothesis for the high frequency of DFNB1 in many large populations of the world, on the basis of an analysis of the proportion of noncomplementary marriages among the deaf during the 19th century, which suggested that the frequency of DFNB1 may have doubled in the United States during the past 200 years. These so-called noncomplementary marriages between individuals with the same type of recessive deafness are incapable of producing hearing offspring, and the square root of their frequency among deaf marriages provides an upper limit for the prevalence of the most common form of recessive deafness at that time. To explain the increase, they suggested that the combination of intense assortative mating and relaxed selection increased both the gene and the phenotype frequencies for DFNB1. The proposed model assumed that in previous millennia the genetic fitness of individuals with profound congenital deafness was very low and that genes for deafness were then in a mutational equilibrium. The introduction of sign language in Europe in the 17th to 18th centuries was a key event that dramatically improved the social and economic circumstances of the deaf, along with their genetic fitness. In many countries, schools for the deaf were established, contributing to the onset of intense linguistic homogamy, i.e., mate selection based on the ability to communicate in sign language. </p><p>In some large populations, connexin-26 deafness has been observed but at a much lower frequency. In Mongolia, for example, where there is only 1 residential school for the deaf, sign language was not introduced until 1995. Moreover, the fitness of the deaf is much lower than that of their hearing sibs, assortative mating is much less frequent than in the United States, and connexin mutations account for only 1.3% of all deafness (Pandya et al., 2001).</p><p>Nance and Kearsey (2004) showed by computer simulation that assortative mating, in fact, can accelerate dramatically the genetic response to relaxed selection. Along with the effects of gene drift and consanguinity, assortative mating also may have played a key role in the joint evolution and accelerated fixation of genes for speech after they first appeared in Homo sapiens 100,000 to 150,000 years ago. </p><p>In 156 unrelated congenitally deaf Czech patients, Seeman et al. (2004) tested for the presence of mutations in the coding sequence of the GJB2 gene. At least 1 pathogenic mutation was detected in 48.1% of patients. The 3 most common mutations were W24X (121011.0003), 35delG (121011.0005), and 313del14 (121011.0034); the authors stated that testing for only these 3 mutations would detect over 96% of all disease-causing mutations in GJB2 in this population. Testing for 35delG in 503 controls revealed a carrier frequency of 1:29.6 (3.4%) in the Czech Republic. </p><p>Alvarez et al. (2005) screened the GJB2 gene in 34 Spanish Romani (gypsy) families with autosomal recessive nonsyndromic hearing loss and found mutations in 50%. The predominant allele was W24X (121011.0003), accounting for 79% of DFNB1 alleles. Haplotype analysis suggested that a founder effect is responsible for the high prevalence of this mutation among Spanish gypsies. 35delG (121011.0005) was the second most common allele (17%). </p><p>Arnos et al. (2008) collected pedigree data on 311 contemporary marriages among deaf individuals that were comparable to those collected by Fay (1898). Segregation analysis of the resulting data revealed that the estimated proportion of noncomplementary matings that can produce only deaf children increased by a factor of more than 5 in the aforegoing 100 years. Additional analysis within their sample of contemporary pedigrees showed that there was a statistically significant linear increase in the prevalence of pathologic GJB2 mutations when the data on 441 probands were partitioned into three 20-year birth cohorts (1920-1980). Arnos et al. (2008) concluded that their data were consistent with the increase in the frequency of DFNB1 predicted by their previous simulation studies, and provided convincing evidence for the important influence that assortative mating can have on the frequency of common genes for deafness. </p><p>Schimmenti et al. (2008) enrolled 95 infants with hearing loss from whom both exons of Cx26 were sequenced and the Cx30 deletion was assayed in a study comparing infants with and without connexin-related hearing loss. Overall among these 95 patients, biallelic mutations were identified in 24.7%, but in only 9.1% of infants of Hispanic origin. Schimmenti et al. (2008) concluded that connexin-related hearing loss occurs in one quarter of infants in an ethnically diverse hearing loss population but with a lower prevalence in Hispanic infants. </p><p>Tekin et al. (2010) screened the GJB2 gene in 534 Mongolian probands with nonsyndromic sensorineural deafness and identified biallelic GJB2 mutations in 23 (4.5%) deaf probands. The most common mutation, IVS1+1G-A (121011.0029), appeared to have diverse origins based on multiple associated haplotypes. Tekin et al. (2010) stated that they found a lower frequency of assortative mating (37.5%) and decreased genetic fitness (62%) of the deaf in Mongolia compared to Western populations, which explained the lower frequency of GJB2 deafness in Mongolia. </p><p>Barashkov et al. (2011) found homozygosity for the IVS1+1G-A mutation in GJB2 in 70 of 86 patients from the Yakut population isolate in eastern Siberia with nonsyndromic hearing impairment. Six patients were compound heterozygous for this mutation and another pathogenic GJB2 mutation. Audiometric examination was performed on 40 patients who were homozygous for the mutation. Most (85%) had severe to profound hearing impairment, 14% had moderate impairment, and 1% had mild hearing loss. There was some variability in hearing thresholds. The carrier frequency for this mutation in this population was estimated to be 11.7%, the highest among 6 eastern Siberian populations analyzed, and the mutation was estimated to be about 800 years old. The findings were consistent with a founder effect, and Barashkov et al. (2011) postulated a central Asian origin for the mutation. </p><p>Among 15,799 ethnically diverse individuals screened for DFNB1 carrier status, Lazarin et al. (2013) identified 371 carriers (2.3%), for an estimated carrier frequency of approximately 1 in 43. Five 'carrier couples' were identified. Six individuals were identified as homozygotes or compound heterozygotes. Among 756 individuals of east Asian origin, the carrier frequency was 1 in 22. </p><p>In 6 Guatemalan probands with DFNB1A, Carranza et al. (2016) identified a homozygous truncating mutation in the GJB1 gene (W44X; 121011.0040). Two additional probands with deafness were compound heterozygous for the W44X mutation and another pathogenic mutation. The patients were from a cohort of 133 Guatemalan families with hearing loss who underwent sequencing of the GJB1 gene. The W44X mutation was the most common GJB1 pathogenic variant identified, accounting for 21 of 266 alleles, and 62% of the mutant GJB1 alleles identified. Haplotype analysis indicated a founder effect in this population, and ancestry analysis of individuals with this pathogenic variant showed a close match with Mayans. The W44X mutation always occurred with a benign c.79G-A variant (V27I) in the GJB1 gene. </p>
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<strong>History</strong>
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<p>In the pre-mendelian era, Meniere (1846, 1856) noted the role of parental consanguinity in deafness. Boudin (1862) noted the association between consanguinity and congenital deafness.</p><p>Groce (1985) traced the history of congenital deafness on Martha's Vineyard, the Massachusetts island. The first deaf person moved to the island in 1694. Groce (1985) estimated that in the 19th century 1 in 155 persons on the island was born deaf. Because there were deaf members in virtually every family in the western part of the island, everyone learned sign language, and the deaf were fully integrated into every aspect of life. Under these circumstances, deafness was not a disability or a handicap.</p><p>Mengel et al. (1967) found severe deafness in 16 members of a kindred. By history, all were born with at least some hearing but suffered progressive severe loss in later childhood. Sonographic and speech analysis gave further evidence of some hearing in early childhood. Audiologic tests suggested cochlear location of the defect. Although successive generations were affected in some instances, consanguinity and recessive inheritance were thought to account for the finding. Barr and Wedenberg (1964) described a similar disorder in 4 of 7 sibs. </p><p>Among the 11 children of consanguineous parents, Cremers (1979) observed 2 boys and a girl with progressive sensorineural deafness, first noticed at ages 4, 7 and 11 years. He found 2 reports of a similar deafness and concluded that it was different from the deafness reported by Mengel et al. (1967). A second family was reported by Cremers et al. (1987). Progressive sensorineural hearing loss started mainly in the higher frequencies. They also found an abrupt decline in the audiogram that slowly decreased with the increase of low frequency hearing loss. </p><p>Ormerod (1960) recognized the following types of congenital deafness, beginning with the most complete form: (1) Michel type--complete lack of development of internal ear. (2) Mondini-Alexander type--development only of a single curved tube representing the cochlea, and similar immaturity of the vestibular canals. (3) Bing-Siebenmann type--bony labyrinth well formed but membranous part and particularly the sense organ poorly developed. This type is often associated with retinitis pigmentosa. (4) Scheibe cochleosaccular type--In this form, which is the most frequent one, the vestibular part is developed and functioning. Malformation is restricted to the membranous cochlea and saccule. This type occurs in Waardenburg syndrome. (5) Siebenmann type--changes mainly in middle ear and often due to thyroid hormone deficiency. The middle ear is involved in myxomatous change which may be embryonic persistence. (6) Microtia and atresia of the meatus--abnormality limited to the external ear. </p>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Deraemaeker (1960); Hanhart (1938); Kabarity et al. (1981); Lindenov
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(1945)
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</span>
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<br />
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<strong>A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. (Letter)</strong>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 03/16/2023<br>Cassandra L. Kniffin - updated : 5/23/2016<br>Anne M. Stumpf - updated : 4/18/2013<br>Ada Hamosh - updated : 9/28/2012<br>Cassandra L. Kniffin - updated : 11/1/2011<br>Marla J. F. O'Neill - updated : 8/22/2011<br>Cassandra L. Kniffin - updated : 11/19/2010<br>Marla J. F. O'Neill - updated : 7/6/2010<br>Cassandra L. Kniffin - updated : 3/3/2009<br>Marla J. F. O'Neill - updated : 10/27/2008<br>Ada Hamosh - updated : 9/8/2008<br>Marla J. F. O'Neill - updated : 2/1/2007<br>Cassandra L. Kniffin - updated : 12/12/2006<br>Cassandra L. Kniffin - updated : 6/1/2006<br>Marla J. F. O'Neill - updated : 11/17/2005<br>Marla J. F. O'Neill - updated : 10/11/2005<br>Marla J. F. O'Neill - updated : 9/19/2005<br>Marla J. F. O'Neill - updated : 4/20/2005<br>Natalie E. Krasikov - updated : 11/2/2004<br>Victor A. McKusick - updated : 5/21/2004<br>Michael B. Petersen - updated : 4/30/2002<br>Victor A. McKusick - updated : 2/6/2002<br>Victor A. McKusick - updated : 5/25/2000<br>Victor A. McKusick - updated : 5/14/1999<br>Victor A. McKusick - updated : 9/9/1997<br>Victor A. McKusick - updated : 4/30/1997
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</span>
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Victor A. McKusick : 7/27/1994
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carol : 09/09/2024<br>carol : 03/16/2023<br>carol : 05/28/2021<br>carol : 05/03/2021<br>carol : 10/14/2016<br>carol : 05/25/2016<br>ckniffin : 5/23/2016<br>carol : 5/16/2016<br>carol : 5/8/2015<br>alopez : 5/30/2013<br>alopez : 4/18/2013<br>alopez : 3/20/2013<br>ckniffin : 2/26/2013<br>alopez : 10/3/2012<br>terry : 9/28/2012<br>carol : 9/21/2012<br>carol : 11/1/2011<br>ckniffin : 11/1/2011<br>carol : 8/24/2011<br>terry : 8/22/2011<br>wwang : 12/22/2010<br>ckniffin : 11/19/2010<br>wwang : 7/8/2010<br>terry : 7/6/2010<br>ckniffin : 3/6/2009<br>carol : 3/6/2009<br>ckniffin : 3/3/2009<br>terry : 12/12/2008<br>wwang : 11/3/2008<br>terry : 10/27/2008<br>alopez : 9/16/2008<br>terry : 9/8/2008<br>carol : 1/31/2008<br>ckniffin : 10/26/2007<br>wwang : 2/1/2007<br>wwang : 12/14/2006<br>ckniffin : 12/12/2006<br>wwang : 6/12/2006<br>ckniffin : 6/1/2006<br>wwang : 11/21/2005<br>terry : 11/17/2005<br>wwang : 10/11/2005<br>wwang : 10/11/2005<br>terry : 9/19/2005<br>wwang : 6/15/2005<br>wwang : 4/28/2005<br>wwang : 4/25/2005<br>terry : 4/20/2005<br>carol : 11/2/2004<br>alopez : 10/11/2004<br>carol : 7/7/2004<br>alopez : 5/27/2004<br>terry : 5/21/2004<br>cwells : 5/2/2002<br>cwells : 4/30/2002<br>alopez : 2/6/2002<br>carol : 5/25/2000<br>mgross : 5/18/1999<br>terry : 5/14/1999<br>terry : 5/14/1999<br>dkim : 10/12/1998<br>alopez : 7/1/1998<br>alopez : 5/28/1998<br>terry : 9/9/1997<br>mark : 6/13/1997<br>mark : 5/5/1997<br>mark : 5/5/1997<br>alopez : 4/30/1997<br>terry : 4/29/1997<br>terry : 3/26/1996<br>mark : 2/14/1996<br>terry : 2/9/1996<br>mark : 2/5/1996<br>terry : 1/29/1996<br>mark : 10/19/1995<br>terry : 1/9/1995<br>carol : 9/1/1994<br>jason : 7/27/1994
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