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Entry
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- #600791 - DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4
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- OMIM
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<p>
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<span class="h4">#600791</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/600791"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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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="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</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="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#populationGenetics">Population Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div 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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</div>
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</a>
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</h4>
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</div>
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</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="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT" 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/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><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1467/" title="SLC26A4-Related Sensorineural Hearing Loss" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">SLC26A4-Related Sensorineu…</a></div>
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</div>
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<div><a href="https://www.diseaseinfosearch.org/x/2542" 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=600791[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=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>
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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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</span>
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</span>
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</div>
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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:0110498" 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/600791" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0110498" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</div>
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 90636<br />
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<strong>DO:</strong> 0110498<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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600791
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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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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NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; NSRD4<br />
|
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DILATED VESTIBULAR AQUEDUCT; DVA
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1307?start=-3&limit=10&highlight=1307">
|
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1q23.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Enlarged vestibular aqueduct, digenic
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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>
|
|
</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">
|
|
KCNJ10
|
|
</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/5/751?start=-3&limit=10&highlight=751">
|
|
5q35.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Enlarged vestibular aqueduct
|
|
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600791"> 600791 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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>
|
|
<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
FOXI1
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601093"> 601093 </a>
|
|
</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/7/577?start=-3&limit=10&highlight=577">
|
|
7q22.3
|
|
</a>
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600791"> 600791 </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">
|
|
SLC26A4
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605646"> 605646 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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<div>
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/600791" 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>
|
|
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|
|
<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>
|
|
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|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/600791" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600791" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
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|
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|
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|
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<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 <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br /> -
|
|
Vestibular abnormalities (variable) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551189&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551189</a>]</span><br /> -
|
|
Enlarged vestibular aqueduct <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863752&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863752</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011387</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011387</a>]</span><br /> -
|
|
Cochlear malformation defect (Mondini dysplasia) (less common)<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">
|
|
|
|
- Hearing loss is pre- or perilingual in onset<br /> -
|
|
Hearing loss may be fluctuating or progressive<br /> -
|
|
Allelic to Pendred syndrome, deafness with goiter (<a href="/entry/274600">274600</a>)<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 solute carrier family 26, member 4 gene (SLC26A4, <a href="/entry/605646#0004">605646.0004</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>
|
|
|
|
</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/609006"> 609006 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606351"> ESPN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606351"> 606351 </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, neurosensory, without vestibular involvement, autosomal dominant </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">
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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">
|
|
<a href="/entry/609006"> 609006 </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/606351"> ESPN </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/606351"> 606351 </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/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">
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<a href="/entry/220290"> Deafness, digenic, GJB2/GJB3 </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>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</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/220290"> 220290 </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/603324"> GJB3 </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/603324"> 603324 </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/1/682?start=-3&limit=10&highlight=682"> 1p31.3 </a>
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</span>
|
|
</td>
|
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<td>
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<span class="mim-font">
|
|
<a href="/entry/617654"> ?Deafness, autosomal recessive 108 </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>
|
|
|
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</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>
|
|
<span class="mim-font">
|
|
<a href="/entry/617654"> 617654 </a>
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/602336"> ROR1 </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/602336"> 602336 </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/1/838?start=-3&limit=10&highlight=838"> 1p21.2 </a>
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|
|
</span>
|
|
</td>
|
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<td>
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|
<span class="mim-font">
|
|
<a href="/entry/608653"> Deafness, autosomal recessive 32, with or without immotile sperm </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/608653"> 608653 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603504"> CDC14A </a>
|
|
</span>
|
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</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>
|
|
|
|
</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/610220"> 610220 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610219"> PJVK </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610219"> 610219 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/58?start=-3&limit=10&highlight=58"> 3p25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601386"> {Deafness, autosomal recessive 12, modifier of} </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/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>
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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/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>
|
|
</td>
|
|
<td>
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|
<span class="mim-font">
|
|
<a href="/entry/609646"> Deafness, autosomal recessive 42 </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/609646"> 609646 </a>
|
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</span>
|
|
</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">
|
|
<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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|
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<tr>
|
|
<td>
|
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<span class="mim-font">
|
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|
<a href="/geneMap/4/116?start=-3&limit=10&highlight=116"> 4p15.32 </a>
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|
|
|
</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>
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|
</span>
|
|
</td>
|
|
<td>
|
|
<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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615837"> 615837 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615762"> GRXCR2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615762"> 615762 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/751?start=-3&limit=10&highlight=751"> 5q35.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600791"> 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/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>
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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/610212"> ?Deafness, autosomal recessive 66 </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/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">
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<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">
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<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>
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<td>
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<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>
|
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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/616515"> ?Deafness, autosomal recessive 104 </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>
|
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|
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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>
|
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<td>
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<span class="mim-font">
|
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<a href="/entry/616515"> 616515 </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/611410"> RIPOR2 </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/611410"> 611410 </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/6/383?start=-3&limit=10&highlight=383"> 6p21.32 </a>
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</span>
|
|
</td>
|
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<td>
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<span class="mim-font">
|
|
<a href="/entry/609706"> Deafness, autosomal recessive 53 </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/609706"> 609706 </a>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120290"> COL11A2 </a>
|
|
</span>
|
|
</td>
|
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<td>
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<span class="mim-font">
|
|
<a href="/entry/120290"> 120290 </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/6/434?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>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605646"> SLC26A4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605646"> 605646 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/581?start=-3&limit=10&highlight=581"> 7q31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603678"> Deafness, autosomal recessive 14 </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/603678"> 603678 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<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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|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
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|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </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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<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>
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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/616705"> ?Deafness, autosomal recessive 97 </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>
|
|
<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/616705"> 616705 </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/164860"> MET </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/164860"> 164860 </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/7/721?start=-3&limit=10&highlight=721"> 7q34-q36 </a>
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|
|
</span>
|
|
</td>
|
|
<td>
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|
<span class="mim-font">
|
|
<a href="/entry/603098"> Deafness, autosomal recessive 13 </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="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>
|
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</span>
|
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</td>
|
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</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>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606808"> 606808 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/128?start=-3&limit=10&highlight=128"> 10p11.23-q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607239"> Deafness, autosomal recessive 33 </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/607239"> 607239 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607239"> DFNB33 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<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>
|
|
<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">
|
|
<a href="/entry/618003"> Deafness, autosomal recessive 57 </a>
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</span>
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</td>
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|
<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/618003"> 618003 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612971"> PDZD7 </a>
|
|
</span>
|
|
</td>
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|
<td>
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|
<span class="mim-font">
|
|
<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>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/39?start=-3&limit=10&highlight=39"> 11p15.5 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617637"> Deafness autosomal recessive 106 </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/617637"> 617637 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614988"> EPS8L2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614988"> 614988 </a>
|
|
</span>
|
|
</td>
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</tr>
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|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/210?start=-3&limit=10&highlight=210"> 11p15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602092"> Deafness, autosomal recessive 18A </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/602092"> 602092 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605242"> USH1C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605242"> 605242 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<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>
|
|
</td>
|
|
</tr>
|
|
|
|
<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>
|
|
|
|
<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>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/902?start=-3&limit=10&highlight=902"> 11q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611022"> Deafness, autosomal recessive 24 </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/611022"> 611022 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/179410"> RDX </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/179410"> 179410 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<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>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/110?start=-3&limit=10&highlight=110"> 14q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600792"> Deafness, autosomal recessive 5 </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/600792"> 600792 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600792"> DFNB5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600792"> 600792 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/149?start=-3&limit=10&highlight=149"> 14q12 </a>
|
|
|
|
</span>
|
|
</td>
|
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<td>
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<span class="mim-font">
|
|
<a href="/entry/618094"> ?Deafness, autosomal recessive 110 </a>
|
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</span>
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</td>
|
|
<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
|
<a href="/entry/618094"> 618094 </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603196"> COCH </a>
|
|
</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
<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>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<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>
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608565"> 608565 </a>
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602167"> ESRRB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<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">
|
|
|
|
<a href="/geneMap/15/154?start=-3&limit=10&highlight=154"> 15q15.3 </a>
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|
|
|
</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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600316"> Deafness, autosomal recessive 3 </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/600316"> 600316 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602666"> MYO15A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602666"> 602666 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/292?start=-3&limit=10&highlight=292"> 17p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<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>
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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/618456"> 618456 </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"> 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>
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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/618481"> Deafness, autosomal recessive 99 </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/618481"> 618481 </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/616178"> TMEM132E </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/616178"> 616178 </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/17/955?start=-3&limit=10&highlight=955"> 17q25.1 </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/617639"> Deafness, autosomal recessive 107 </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>
|
|
</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>
|
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<td>
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|
<span class="mim-font">
|
|
<a href="/entry/617639"> 617639 </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/606962"> WBP2 </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/606962"> 606962 </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/18/3?start=-3&limit=10&highlight=3"> 18p11.32-p11.31 </a>
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|
|
</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
<a href="/entry/609647"> Deafness, autosomal recessive 46 </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="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>
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|
<td>
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|
<span class="mim-font">
|
|
<a href="/entry/609647"> DFNB46 </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/609647"> 609647 </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/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">
|
|
<a href="/entry/614861"> ?Deafness, autosomal recessive 98 </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/614861"> 614861 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612920"> TSPEAR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612920"> 612920 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/15?start=-3&limit=10&highlight=15"> 22q11.21-q12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608264"> Deafness, autosomal recessive 40 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-4 (DFNB4) with enlarged vestibular aqueduct (EVA) is caused by homozygous or compound heterozygous mutation in the SLC26A4 gene (<a href="/entry/605646">605646</a>) on chromosome 7q22.</p><p>Mutation in the FOXI1 gene (<a href="/entry/601093">601093</a>) has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 (<a href="/entry/602208">602208</a>) genes.</p><p>Mutations in the SLC26A4 gene also cause Pendred syndrome (PDS; <a href="/entry/274600">274600</a>), a disorder comprising congenital sensorineural hearing loss, cochlear abnormalities (EVA or Mondini dysplasia), and thyroid enlargement (goiter).</p>
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<p>DFNB4 with enlarged vestibular aqueduct is characterized by pre- or perilingual onset of sensorineural or mixed hearing loss, which may be fluctuating or progressive. The hearing loss is associated with temporal bone abnormalities, most commonly enlargement of the vestibular aqueduct, but it can also include the more severe Mondini dysplasia, a complex malformation in which the normal cochlear spiral of 2.5 turns is replaced by a hypoplastic coil of 1.5 turns (summary by <a href="#8" class="mim-tip-reference" title="Campbell, C., Cucci, R. A., Prasad, S., Green, G. E., Edeal, J. B., Galer, C. E., Karniski, L. P., Sheffield, V. C., Smith, R. J. H. <strong>Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.</strong> Hum. Mutat. 17: 403-411, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11317356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11317356</a>] [<a href="https://doi.org/10.1002/humu.1116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11317356">Campbell et al., 2001</a> and <a href="#21" class="mim-tip-reference" title="Pryor, S. P., Madeo, A. C., Reynolds, J. C., Sarlis, N. J., Arnos, K. S., Nance, W. E., Yang, Y., Zalewski, C. K., Brewer, C. C., Butman, J. A., Griffith, A. J. <strong>SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. (Letter)</strong> J. Med. Genet. 42: 159-165, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15689455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15689455</a>] [<a href="https://doi.org/10.1136/jmg.2004.024208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15689455">Pryor et al., 2005</a>). Enlarged vestibular aqueduct is the most common form of inner ear abnormality and can be associated with disequilibrium symptoms in a minority of patients (<a href="#25" class="mim-tip-reference" title="Valvassori, G. E. <strong>The large vestibular aqueduct and associated anomalies in the inner ear.</strong> Otolaryng. Clin. N. Am. 16: 95-101, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6602318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6602318</a>]" pmid="6602318">Valvassori, 1983</a>; <a href="#15" class="mim-tip-reference" title="Jackler, R. K., De La Cruz, A. <strong>The large vestibular aqueduct syndrome.</strong> Laryngoscope 99: 1238-1243, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2601537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2601537</a>] [<a href="https://doi.org/10.1288/00005537-198912000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2601537">Jackler and de la Cruz, 1989</a>; <a href="#16" class="mim-tip-reference" title="Levenson, M. J., Parisier, S. C., Jacobs, M., Edelstein, D. R. <strong>The large vestibular aqueduct syndrome in children: a review of 12 cases and the description of a new clinical entity.</strong> Arch. Otolaryng. Head Neck Surg. 115: 54-58, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2642380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2642380</a>] [<a href="https://doi.org/10.1001/archotol.1989.01860250056026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2642380">Levenson et al., 1989</a>; <a href="#4" class="mim-tip-reference" title="Arcand, P., Desrosiers, M., Dube, J., Abela, A. <strong>The large vestibular aqueduct syndrome and sensorineural hearing loss in the pediatric population.</strong> J. Otolaryng. 20: 247-250, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1920576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1920576</a>]" pmid="1920576">Arcand et al., 1991</a>; <a href="#7" class="mim-tip-reference" title="Belenky, W. M., Madgy, D. N., Leider, J. S., Becker, C. J., Hotaling, A. J. <strong>The enlarged vestibular aqueduct syndrome (EVA syndrome).</strong> Ear Nose Throat J. 72: 746-751, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8261931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8261931</a>]" pmid="8261931">Belenky et al., 1993</a>; <a href="#18" class="mim-tip-reference" title="Okumura, T., Takahashi, H., Honjo, I., Takagi, A., Mitamura, K. <strong>Sensorineural hearing loss in patients with large vestibular aqueduct.</strong> Laryngoscope 105: 289-294, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7877418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7877418</a>] [<a href="https://doi.org/10.1288/00005537-199503000-00012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7877418">Okumura et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7877418+15689455+8261931+6602318+1920576+11317356+2601537+2642380" 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="#13" class="mim-tip-reference" title="Griffith, A. J., Arts, A., Downs, C., Innis, J. W., Shepard, N. T., Sheldon, S., Gebarski, S. S. <strong>Familial large vestibular aqueduct syndrome.</strong> Laryngoscope 106: 960-965, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8699909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8699909</a>] [<a href="https://doi.org/10.1097/00005537-199608000-00009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8699909">Griffith et al. (1996)</a> reported a family in which 2 brothers had sensorineural hearing loss and enlarged vestibular aqueduct with no other abnormalities. Their parents were unaffected. The authors suggested autosomal recessive or X-linked inheritance with variable expressivity of the disorder in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8699909" 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="Abe, S., Usami, S., Shinkawa, H. <strong>Three familial cases of hearing loss associated with enlargement of the vestibular aqueduct.</strong> Ann. Otol. Rhinol. Laryng. 106: 1063-1069, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9415602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9415602</a>] [<a href="https://doi.org/10.1177/000348949710601210" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9415602">Abe et al. (1997)</a> reported 3 families in which 2 sibs in each had congenital, high-frequency, fluctuating sensorineural hearing loss associated with enlargement of the vestibular aqueduct. Both parents in all 3 families were unaffected, suggesting autosomal recessive inheritance of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9415602" 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="Abe, S., Usami, S., Hoover, D. M., Cohn, E., Shinkawa, H., Kimberling, W. J. <strong>Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene.</strong> Am. J. Med. Genet. 82: 322-328, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10051166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10051166</a>]" pmid="10051166">Abe et al. (1999)</a> studied 13 patients from 9 Japanese families and 2 patients from a Caucasian family who had congenital high frequency-dominant fluctuating sensorineural hearing loss and EVA on CT scan. Gadolidium-enhanced MRI confirmed the enlarged endolymphatic duct and sac. Hearing loss in some patient was progressive but with fluctuations, and about one-third had a history of vertigo. The perchlorate discharge test was performed in 8 patients from 6 of the families; all results were normal. Three of these families had been described previously by <a href="#2" class="mim-tip-reference" title="Abe, S., Usami, S., Shinkawa, H. <strong>Three familial cases of hearing loss associated with enlargement of the vestibular aqueduct.</strong> Ann. Otol. Rhinol. Laryng. 106: 1063-1069, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9415602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9415602</a>] [<a href="https://doi.org/10.1177/000348949710601210" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9415602">Abe et al. (1997)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10051166+9415602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Li, X. C., Everett, L. A., Lalwani, A. K., Desmukh, D., Friedman, T. B., Green, E. D., Wilcox, E. R. <strong>A mutation in PDS causes non-syndromic recessive deafness. (Letter)</strong> Nature Genet. 18: 215-217, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9500541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9500541</a>] [<a href="https://doi.org/10.1038/ng0398-215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9500541">Li et al. (1998)</a> studied a large consanguineous family from southwest India in which 10 individuals ranging in age from 5 to 38 years were affected with congenital, profound, nonsyndromic autosomal recessive deafness. No goiter was palpable in any of the affected individuals and, although the perchlorate discharge test was not available, several other tests of thyroid function were normal. Axial and coronal computerized tomography of the temporal bone showed bilateral large vestibular aqueducts in all 3 affected individuals who were studied, with no Mondini-type cochlear malformation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9500541" 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="#5" class="mim-tip-reference" title="Baldwin, C. T., Weiss, S., Farrer, L., De Stefano, A., Adair, R., Franklyn, B., Kidd, K. K., Korostishevsky, M., Bonne-Tamir, B. <strong>Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.</strong> Hum. Molec. Genet. 4: 1637-1642, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541853</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541853">Baldwin et al. (1995)</a> described a large Middle-Eastern Druze family with recessive nonsyndromic deafness and demonstrated linkage between deafness in this family and 7q31 with a lod score exceeding 5.5. <a href="#5" class="mim-tip-reference" title="Baldwin, C. T., Weiss, S., Farrer, L., De Stefano, A., Adair, R., Franklyn, B., Kidd, K. K., Korostishevsky, M., Bonne-Tamir, B. <strong>Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.</strong> Hum. Molec. Genet. 4: 1637-1642, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541853</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541853">Baldwin et al. (1995)</a> designated the locus DFNB4. In addition, they found that deafness in 3 other Druze pedigrees, including 1 related to the linked family, was not linked to 7q31. Thus, there appear to be multiple nonallelic mutations for deafness in this genetic isolate. On the basis of a personal communication from <a href="#6" class="mim-tip-reference" title="Baldwin, C. T. <strong>Personal Communication.</strong> Boston, Mass. 1998."None>Baldwin (1998)</a>, <a href="#17" class="mim-tip-reference" title="Li, X. C., Everett, L. A., Lalwani, A. K., Desmukh, D., Friedman, T. B., Green, E. D., Wilcox, E. R. <strong>A mutation in PDS causes non-syndromic recessive deafness. (Letter)</strong> Nature Genet. 18: 215-217, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9500541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9500541</a>] [<a href="https://doi.org/10.1038/ng0398-215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9500541">Li et al. (1998)</a> purported that the Israeli-Druze family indeed had Pendred syndrome. Affected members of this family were later found to have goiters. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8541853+9500541" 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="Everett, L. A., Glaser, B., Beck, J. C., Idol, J. R., Buchs, A., Heyman, M., Adawi, F., Hazani, E., Nassir, E., Baxevanis, A. D., Sheffield, V. C., Green, E. D. <strong>Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).</strong> Nature Genet. 17: 411-422, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9398842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9398842</a>] [<a href="https://doi.org/10.1038/ng1297-411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9398842">Everett et al. (1997)</a> identified SLC26A4 (<a href="/entry/605646">605646</a>) as the gene mutant in Pendred syndrome (PDS; <a href="/entry/274600">274600</a>) in 3 families. The gene maps to 7q31. They pointed out that DFNB4 also maps to 7q31 and considered it likely that the DFNB4 individuals reported actually have PDS, rather than mutations in another gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9398842" 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 linkage analysis in 9 Japanese families and 1 Caucasian family with sensorineural hearing loss associated with EVA, <a href="#1" class="mim-tip-reference" title="Abe, S., Usami, S., Hoover, D. M., Cohn, E., Shinkawa, H., Kimberling, W. J. <strong>Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene.</strong> Am. J. Med. Genet. 82: 322-328, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10051166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10051166</a>]" pmid="10051166">Abe et al. (1999)</a> localized the gene responsible to 7q31, with a maximum multipoint lod score of 3.647. The EVA candidate gene region was found to lie in a 1.7-cM interval between flanking markers D7S501 and D7S2425. Although this region overlaps the region containing the gene responsible for Pendred syndrome, these patients did not fulfill the criteria for PDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10051166" 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><strong><em>Mutations in the SLC26A4 Gene</em></strong></p><p>
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In affected members of a large consanguineous family from southwest India with DFNB4 with EVA, <a href="#17" class="mim-tip-reference" title="Li, X. C., Everett, L. A., Lalwani, A. K., Desmukh, D., Friedman, T. B., Green, E. D., Wilcox, E. R. <strong>A mutation in PDS causes non-syndromic recessive deafness. (Letter)</strong> Nature Genet. 18: 215-217, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9500541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9500541</a>] [<a href="https://doi.org/10.1038/ng0398-215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9500541">Li et al. (1998)</a> found linkage to chromosome 7q31 and demonstrated that affected individuals were compound homozygotes for 2 mutations in exon 13 of the PDS gene (<a href="/entry/605646#0004">605646.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9500541" 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="Usami, S., Abe, S., Weston, M. D., Shinkawa, H., Van Camp, G., Kimberling, W. J. <strong>Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.</strong> Hum. Genet. 104: 188-192, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10190331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10190331</a>] [<a href="https://doi.org/10.1007/s004390050933" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10190331">Usami et al. (1999)</a> screened the SLC26A4 gene for mutations in 6 families with congenital nonsyndromic high frequency, fluctuating, sometimes progressive sensorineural hearing loss, and enlarged vestibular aqueduct diagnosed by CT. One patient had a history of vertigo; none had Mondini malformation. Affected individuals in 4 of the 6 families were homozygous or compound heterozygous for SLC26A4 mutations (<a href="/entry/605646#0009">605646.0009</a>-<a href="/entry/605646#0015">605646.0015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10190331" 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="#8" class="mim-tip-reference" title="Campbell, C., Cucci, R. A., Prasad, S., Green, G. E., Edeal, J. B., Galer, C. E., Karniski, L. P., Sheffield, V. C., Smith, R. J. H. <strong>Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.</strong> Hum. Mutat. 17: 403-411, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11317356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11317356</a>] [<a href="https://doi.org/10.1002/humu.1116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11317356">Campbell et al. (2001)</a> found mutations in the SLC26A4 gene in 5 of 6 multiplex families with EVA (83%) and in 4 of 5 multiplex families with Mondini dysplasia (80%), implying that mutations in the SLC26A4 gene are the major genetic cause of these temporal abnormalities. In their analyses of Pendred syndrome and DFNB4, they found that the 2 most common mutations, T416P (<a href="/entry/605646#0006">605646.0006</a>) and IVS8+1G-A (<a href="/entry/605646#0007">605646.0007</a>), were present in 22% and 30% of families, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11317356" 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>Recessive mutations in the anion transporter gene SLC26A4 are known to be responsible for Pendred syndrome and for nonsyndromic hearing loss associated with EVA. However, a large percentage of patients with these phenotypes lack mutations in the SLC26A4 coding region in one or both alleles. <a href="#28" class="mim-tip-reference" title="Yang, T., Vidarsson, H., Rodrigo-Blomqvist, S., Rosengren, S. S., Enerback, S., Smith, R. J. H. <strong>Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).</strong> Am. J. Hum. Genet. 80: 1055-1063, 2007. Note: Erratum: Am. J. Hum. Genet. 81: 634 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17503324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17503324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17503324[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/518314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17503324">Yang et al. (2007)</a> identified and characterized a key transcriptional regulatory element in the SLC26A4 promoter that binds FOXI1 (<a href="/entry/601093">601093</a>), which is a transcriptional activator of SLC26A4. They found 9 patients with Pendred syndrome or nonsyndromic EVA who were heterozygous for a novel -103T-C mutation (<a href="/entry/605646#0027">605646.0027</a>) in this regulatory element of the SLC26A4 gene that interfered with FOXI1 binding and completely abolished FOXI1-mediated transcriptional activation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17503324" 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>Mutation in the FOXI1 Gene</em></strong></p><p>
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In 2 families given a diagnosis of enlarged vestibular aqueduct, <a href="#28" class="mim-tip-reference" title="Yang, T., Vidarsson, H., Rodrigo-Blomqvist, S., Rosengren, S. S., Enerback, S., Smith, R. J. H. <strong>Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).</strong> Am. J. Hum. Genet. 80: 1055-1063, 2007. Note: Erratum: Am. J. Hum. Genet. 81: 634 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17503324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17503324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17503324[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/518314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17503324">Yang et al. (2007)</a> found heterozygosity for a mutation in the FOXI1 gene (<a href="/entry/601093#0002">601093.0002</a>). Although both of these families were classified by the authors as 'nonsyndromic EVA,' in one of them goiter reminiscent of Pendred syndrome was noted. Both alleles of the SLC26A4 gene were wildtype. The FOXI1 mutation showed significantly decreased luciferase activation in promoter-reporter assays, suggesting that this variant compromised the ability of FOXI1 to transactivate SLC26A4 and was causally related to disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17503324" 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>Digenic Inheritance</em></strong></p><p>
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<a href="#28" class="mim-tip-reference" title="Yang, T., Vidarsson, H., Rodrigo-Blomqvist, S., Rosengren, S. S., Enerback, S., Smith, R. J. H. <strong>Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).</strong> Am. J. Hum. Genet. 80: 1055-1063, 2007. Note: Erratum: Am. J. Hum. Genet. 81: 634 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17503324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17503324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17503324[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/518314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17503324">Yang et al. (2007)</a> reported a patient with DFNB4 and EVA who was compound heterozygous for a mutation in 2 different genes. The patient had a heterozygous mutation in the SLC26A4 gene (<a href="/entry/605646#0028">605646.0028</a>) and a heterozygous mutation in the FOXI1 gene (<a href="/entry/601093#0001">601093.0001</a>). This finding was consistent with their observation that EVA occurs in the mouse mutant doubly heterozygous for mutations in these 2 genes, and the results supported a dosage-dependent model for the molecular pathogenesis of nonsyndromic EVA that involves SLC26A4 and its transcriptional regulatory machinery. <a href="#28" class="mim-tip-reference" title="Yang, T., Vidarsson, H., Rodrigo-Blomqvist, S., Rosengren, S. S., Enerback, S., Smith, R. J. H. <strong>Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).</strong> Am. J. Hum. Genet. 80: 1055-1063, 2007. Note: Erratum: Am. J. Hum. Genet. 81: 634 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17503324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17503324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17503324[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/518314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17503324">Yang et al. (2007)</a> stated the this was the first example of digenic inheritance to be verified as a cause of human deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17503324" 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="#27" class="mim-tip-reference" title="Yang, T., Gurrola, J. G., II, Wu, H., Chiu, S. M., Wangemann, P., Snyder, P. M., Smith, R. J. H. <strong>Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.</strong> Am. J. Hum. Genet. 84: 651-657, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19426954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19426954</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19426954[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/10.1016/j.ajhg.2009.04.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19426954">Yang et al. (2009)</a> sequenced the KCNJ10 gene (<a href="/entry/602208">602208</a>) in 89 patients who had a clinical diagnosis of EVA/Pendred syndrome and were known to carry only 1 SLC26A4 coding sequence mutation; promoter mutations and deletions of SLC26A4 were excluded in this patient cohort. In 2 patients, <a href="#27" class="mim-tip-reference" title="Yang, T., Gurrola, J. G., II, Wu, H., Chiu, S. M., Wangemann, P., Snyder, P. M., Smith, R. J. H. <strong>Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.</strong> Am. J. Hum. Genet. 84: 651-657, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19426954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19426954</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19426954[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/10.1016/j.ajhg.2009.04.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19426954">Yang et al. (2009)</a> identified missense mutations in KCNJ10 (P194H, <a href="/entry/602208#0008">602208.0008</a> and R348C, <a href="/entry/602208#0009">602208.0009</a>, respectively). The former patient carried a F335L mutation in SLC26A4 (<a href="/entry/605646#0031">605646.0031</a>), and the latter a splice site mutation (<a href="/entry/605646#0029">605646.0029</a>). Both KCNJ10 mutations reduce potassium conductance activity, which is critical for generating and maintaining the endocochlear potential. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19426954" 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="#22" class="mim-tip-reference" title="Scott, D. A., Wang, R., Kreman, T. M., Andrews, M., McDonald, J. M., Bishop, J. R., Smith, R. J. H., Karniski, L. P., Sheffield, V. C. <strong>Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).</strong> Hum. Molec. Genet. 9: 1709-1715, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10861298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10861298</a>] [<a href="https://doi.org/10.1093/hmg/9.11.1709" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10861298">Scott et al. (2000)</a> compared 3 common Pendred syndrome allele variants with 3 PDS mutations reported only in individuals with nonsyndromic hearing loss. The mutations associated with Pendred syndrome exhibited complete loss of pendrin (SLC26A4)-induced chloride and iodide transport, while alleles unique to patients with DFNB4 were able to transport both iodide and chloride, albeit at a much lower level than wildtype pendrin. The authors hypothesized that the residual level of anion transport was sufficient to eliminate or postpone the onset of goiter in individuals with DFNB4. They proposed a model for pendrin function in the thyroid in which pendrin transports iodide across the apical membrane of the thyrocyte into the colloid space. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10861298" 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="#23" class="mim-tip-reference" title="Tsukamoto, K., Suzuki, H., Harada, D., Namba, A., Abe, S., Usami, S. <strong>Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.</strong> Europ. J. Hum. Genet. 11: 916-922, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14508505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14508505</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201073" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14508505">Tsukamoto et al. (2003)</a> screened 10 Japanese families with Pendred syndrome, 32 Japanese families with bilateral sensorineural hearing loss associated with EVA, and 96 unrelated Japanese controls for mutations in the SLC26A4 gene. They identified causative mutations in 90% of the typical Pendred syndrome families and in 78.1% of those with sensorineural hearing loss with EVA. None of their patients had the Mondini malformation. <a href="#23" class="mim-tip-reference" title="Tsukamoto, K., Suzuki, H., Harada, D., Namba, A., Abe, S., Usami, S. <strong>Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.</strong> Europ. J. Hum. Genet. 11: 916-922, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14508505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14508505</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201073" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14508505">Tsukamoto et al. (2003)</a> noted that the same combination of mutations resulted in variable phenotypic expression (see, e.g., <a href="/entry/605646#0011">605646.0011</a> and <a href="/entry/605646#0012">605646.0012</a>), suggesting that these 2 conditions are part of a continuous spectrum of disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14508505" 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="#21" class="mim-tip-reference" title="Pryor, S. P., Madeo, A. C., Reynolds, J. C., Sarlis, N. J., Arnos, K. S., Nance, W. E., Yang, Y., Zalewski, C. K., Brewer, C. C., Butman, J. A., Griffith, A. J. <strong>SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. (Letter)</strong> J. Med. Genet. 42: 159-165, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15689455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15689455</a>] [<a href="https://doi.org/10.1136/jmg.2004.024208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15689455">Pryor et al. (2005)</a> evaluated the clinical phenotype and SLC26A4 genotype of 39 patients with EVA from 31 families, definitively classifying 29 individuals. All 11 PDS patients had 2 mutant SLC26A4 alleles, whereas all 18 nonsyndromic EVA patients had either 1 or no SLC26A4 mutant alleles. <a href="#21" class="mim-tip-reference" title="Pryor, S. P., Madeo, A. C., Reynolds, J. C., Sarlis, N. J., Arnos, K. S., Nance, W. E., Yang, Y., Zalewski, C. K., Brewer, C. C., Butman, J. A., Griffith, A. J. <strong>SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. (Letter)</strong> J. Med. Genet. 42: 159-165, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15689455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15689455</a>] [<a href="https://doi.org/10.1136/jmg.2004.024208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15689455">Pryor et al. (2005)</a> concluded that PDS and nonsyndromic EVA are distinct clinical and genetic entities, with PDS being a genetically homogeneous disorder caused by biallelic SLC26A4 mutations, and at least some cases of nonsyndromic EVA being associated with a single SLC26A4 mutation. They noted that the detection of a single mutant SLC26A4 allele is incompletely diagnostic without additional clinical evaluation to differentiate PDS from nonsyndromic EVA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15689455" 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="Albert, S., Blons, H., Jonard, L., Feldmann, D., Chauvin, P., Loundon, N., Sergent-Allaoui, A., Houang, M., Joannard, A., Schmerber, S., Delobel, B., Leman, J., and 18 others. <strong>SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.</strong> Europ. J. Hum. Genet. 14: 773-779, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16570074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16570074</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201611" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16570074">Albert et al. (2006)</a> analyzed the SLC26A4 gene in 109 patients from 100 unrelated French Caucasian families with nonsyndromic deafness and enlarged vestibular aqueduct and no mutation in the GJB2 gene (<a href="/entry/121011">121011</a>). They identified 91 allelic variants in 40 unrelated families (prevalence of SLC26A4 mutations, 40%). There were 18 compound heterozygous and 6 homozygous families; <a href="#3" class="mim-tip-reference" title="Albert, S., Blons, H., Jonard, L., Feldmann, D., Chauvin, P., Loundon, N., Sergent-Allaoui, A., Houang, M., Joannard, A., Schmerber, S., Delobel, B., Leman, J., and 18 others. <strong>SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.</strong> Europ. J. Hum. Genet. 14: 773-779, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16570074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16570074</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201611" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16570074">Albert et al. (2006)</a> noted that patients with biallelic mutations had more severe deafness, an earlier age of diagnosis, and a more fluctuating course than patients in whom no mutation was identified. <a href="#3" class="mim-tip-reference" title="Albert, S., Blons, H., Jonard, L., Feldmann, D., Chauvin, P., Loundon, N., Sergent-Allaoui, A., Houang, M., Joannard, A., Schmerber, S., Delobel, B., Leman, J., and 18 others. <strong>SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.</strong> Europ. J. Hum. Genet. 14: 773-779, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16570074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16570074</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201611" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16570074">Albert et al. (2006)</a> estimated that up to 4% of nonsyndromic hearing impairment could be caused by SLC26A4 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16570074" 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 71 families with EVA, <a href="#10" class="mim-tip-reference" title="Choi, B. Y., Madeo, A. C., King, K. A., Zalewski, C. K., Pryor, S. P., Muskett, J. A., Nance, W. E., Butman, J. A., Brewer, C. C., Griffith, A. J. <strong>Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. (Letter)</strong> J. Med. Genet. 46: 856-861, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19578036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19578036</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19578036[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.2009.067892" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19578036">Choi et al. (2009)</a> used sequence analysis of SLC26A4 coding and conserved noncoding regions and CGH microarray analysis, and compared segregation of EVA among families with 2, 1, or no detectable mutant alleles of SLC26A4. EVA segregation ratios were similar in families with 1 or 2 mutant alleles, but the segregation ratio for families with 1 mutation was significantly higher than that of families with no SLC26A4 mutations. Haplotype analyses revealed discordant segregation of EVA with SLC26A4-linked STR markers in 8 of 24 families with no mutation in SLC26A4. <a href="#10" class="mim-tip-reference" title="Choi, B. Y., Madeo, A. C., King, K. A., Zalewski, C. K., Pryor, S. P., Muskett, J. A., Nance, W. E., Butman, J. A., Brewer, C. C., Griffith, A. J. <strong>Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. (Letter)</strong> J. Med. Genet. 46: 856-861, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19578036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19578036</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19578036[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.2009.067892" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19578036">Choi et al. (2009)</a> concluded that families with EVA and 1 detectable mutation in SLC26A4 were likely to be segregating EVA as a trait caused by that mutation in combination with a second occult mutant allele of SLC26A4 or of another autosomal gene. In contrast, EVA appeared to be a nongenetic or complex trait with a significantly lower recurrence rate in families with no detectable SLC26A4 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19578036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Chattaraj, P., Munjal, T., Honda, K., Rendtorff, N. D., Ratay, J. S., Muskett, J. A., Risso, D. S., Roux, I., Gertz, E. M., Schaffer, A. A., Friedman, T. B., Morell, R. J., Tranebjaerg, L., Griffith, A. J. <strong>A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.</strong> J. Med. Genet. 54: 665-673, 2017. Note: Erratum: J. Med. Genet. 55: 846 only, 2018. Erratum: 6July, 2023. Advance Electronic Publication.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28780564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28780564</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28780564[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/jmedgenet-2017-104721" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28780564">Chattaraj et al. (2017)</a> performed genotype-haplotype analysis and massively parallel sequencing of the SLC26A4 gene in patients with EVA and only 1 detected mutant allele in the SLC26A4 gene. The authors identified a shared novel haplotype, termed CEVA (Caucasian EVA), composed of 12 uncommon variants upstream of SLC26A4. The presence of the CEVA haplotype on 7 of 10 mutation-negative chromosomes in a National Institutes of Health discovery cohort and 6 of 6 mutation-negative chromosomes in a Danish replication cohort was higher than the observed prevalence of 28 of 1,006 Caucasian control chromosomes (p less than 0.0001 for each EVA cohort). The corresponding heterozygous carrier rate was 28 of 503 (5.6%). The prevalence of CEVA (11 of 126) was also increased among EVA chromosomes with no mutations detected (p = 0.0042). <a href="#9" class="mim-tip-reference" title="Chattaraj, P., Munjal, T., Honda, K., Rendtorff, N. D., Ratay, J. S., Muskett, J. A., Risso, D. S., Roux, I., Gertz, E. M., Schaffer, A. A., Friedman, T. B., Morell, R. J., Tranebjaerg, L., Griffith, A. J. <strong>A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.</strong> J. Med. Genet. 54: 665-673, 2017. Note: Erratum: J. Med. Genet. 55: 846 only, 2018. Erratum: 6July, 2023. Advance Electronic Publication.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28780564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28780564</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28780564[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/jmedgenet-2017-104721" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28780564">Chattaraj et al. (2017)</a> concluded that the CEVA haplotype causally contributes to most cases of Caucasian EVA, being present in cases where only 1 mutation is detected by traditional exonic sequencing, and possibly in some cases where no mutation has been detected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28780564" 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="#26" class="mim-tip-reference" title="Wang, Q.-J., Zhao, Y.-L., Rao, S.-Q., Guo, Y.-F., Yuan, H., Zong, L., Guan, J., Xu, B.-C., Wang, D.-Y., Han, M.-K., Lan, L., Zhai, S.-Q., Shen, Y. <strong>A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.</strong> Clin. Genet. 72: 245-254, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17718863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17718863</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00862.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17718863">Wang et al. (2007)</a> identified a total of 40 SLC26A4 mutations, including 25 novel mutations, among 107 Chinese patients with EVA from 101 families. Overall, SLC26A4 mutations were identified in 97.9% of patients. The most common mutation was a splice site transition (IVS7-2A-G; <a href="/entry/605646#0029">605646.0029</a>), which accounted for 57.6% of mutant alleles. <a href="#19" class="mim-tip-reference" title="Park, H.-J., Lee, S.-J., Jin, H.-S., Lee, J. O., Go, S.-H., Jang, H. S., Moon, S.-K., Lee, S.-C., Chun, Y.-M., Lee, H.-K., Choi, J.-Y., Jung, S.-C., Griffith, A. J., Koo, S. K. <strong>Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans.</strong> Clin. Genet. 67: 160-165, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15679828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15679828</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2004.00386.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15679828">Park et al. (2005)</a> identified the same splice site mutation in 9 (20%) of 45 mutant alleles in a study of Korean EVA patients. In 15 patients from 13 unrelated Chinese families with deafness and EVA, <a href="#14" class="mim-tip-reference" title="Hu, H., Wu, L., Feng, Y., Pan, Q., Long, Z., Li, J., Dai, H., Xia, K., Liang, D., Niikawa, N., Xia, J. <strong>Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.</strong> J. Hum. Genet. 52: 492-497, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17443271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17443271</a>] [<a href="https://doi.org/10.1007/s10038-007-0139-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17443271">Hu et al. (2007)</a> identified the IVS7-2A-G mutation in 5 (22.3%) of 22 mutant alleles. Reviewing previously published studies involving Chinese patients, the authors stated that IVS7-2A-G accounted for 69.1% (76 of 110) of all mutant alleles in the Chinese, suggesting a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17443271+15679828+17718863" 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="#20" class="mim-tip-reference" title="Pourova, R., Janousek, P., Jurovcik, M., Dvorakova, M., Malikova, M., Raskova, D., Bendova, O., Leonardi, E., Murgia, A., Kabelka, Z., Astl, J., Seeman, P. <strong>Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without enlarged vestibular aqueduct (EVA).</strong> Ann. Hum. Genet. 74: 299-307, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20597900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20597900</a>] [<a href="https://doi.org/10.1111/j.1469-1809.2010.00581.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20597900">Pourova et al. (2010)</a> screened the SLC26A4 gene in 303 Czech patients with early-onset hearing loss. The patients were divided into 3 groups: 22 with EVA and/or Mondini malformation on imaging, 220 patients without imaging available, and 61 patients with EVA/Mondini-negative imaging studies. Biallelic SLC26A4 mutations were found in 6 (27.3%) patients in the first group, 2 (0.9%) patients in the second group, and none (0%) in the third group; 4 of the 8 patients with biallelic mutations had goiter, consistent with Pendred syndrome. Monoallelic SLC26A4 mutations were found in 3 (13.6%) patients in the first group, 12 (5.5%) patients in the second group, and 3 (4.9%) patients in the third group. The most frequent mutations were V138F (<a href="/entry/605646#0024">605646.0024</a>) and L445W (<a href="/entry/605646#0018">605646.0018</a>), in 18% and 8.9% alleles, respectively. Among 13 patients with bilateral EVA, 6 (46%) carried biallelic mutations. No biallelic mutations were found in EVA-negative patients, but 4.9% had monoallelic mutations. Overall, biallelic mutations were found in only 2.7% of all patients, but were more common in familial cases. The findings also suggested that a single SLC26A4 mutation may contribute to the phenotype, perhaps in concert with mutations in other genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20597900" 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 title of their paper, <a href="#5" class="mim-tip-reference" title="Baldwin, C. T., Weiss, S., Farrer, L., De Stefano, A., Adair, R., Franklyn, B., Kidd, K. K., Korostishevsky, M., Bonne-Tamir, B. <strong>Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.</strong> Hum. Molec. Genet. 4: 1637-1642, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541853</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541853">Baldwin et al. (1995)</a> referred to the form of deafness that maps to 7q31 as DFNB4. The same symbol was used by <a href="#12" class="mim-tip-reference" title="Fukushima, K., Ramesh, A., Srikumari Srisailapathy, C. R., Ni, L., Chen, A., O'Neill, M., Van Camp, G., Coucke, P., Smith, S. D., Kenyon, J. B., Jain, P., Wilcox, E. R., Zbar, R. I. S., Smith, R. J. H. <strong>Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.</strong> Hum. Molec. Genet. 4: 1643-1648, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541854</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1643" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541854">Fukushima et al. (1995)</a> for a locus on chromosome 14 (<a href="/entry/600792">600792</a>). The chromosome 14 locus is, in fact, symbolized DFNB5. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8541854+8541853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541853</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8541853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2017-104721" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.2009.067892" target="_blank">Full Text</a>]
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<strong>Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541854</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8541854" 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/10.1093/hmg/4.9.1643" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2601537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2601537</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2601537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1288/00005537-198912000-00006" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archotol.1989.01860250056026" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng0398-215" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1288/00005537-199503000-00012" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2004.00386.x" target="_blank">Full Text</a>]
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<a id="Pourova2010" class="mim-anchor"></a>
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Pourova, R., Janousek, P., Jurovcik, M., Dvorakova, M., Malikova, M., Raskova, D., Bendova, O., Leonardi, E., Murgia, A., Kabelka, Z., Astl, J., Seeman, P.
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<strong>Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without enlarged vestibular aqueduct (EVA).</strong>
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[<a href="https://doi.org/10.1111/j.1469-1809.2010.00581.x" target="_blank">Full Text</a>]
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Pryor, S. P., Madeo, A. C., Reynolds, J. C., Sarlis, N. J., Arnos, K. S., Nance, W. E., Yang, Y., Zalewski, C. K., Brewer, C. C., Butman, J. A., Griffith, A. J.
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[<a href="https://doi.org/10.1136/jmg.2004.024208" target="_blank">Full Text</a>]
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Scott, D. A., Wang, R., Kreman, T. M., Andrews, M., McDonald, J. M., Bishop, J. R., Smith, R. J. H., Karniski, L. P., Sheffield, V. C.
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<strong>Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).</strong>
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Hum. Molec. Genet. 9: 1709-1715, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10861298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10861298</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10861298" 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/10.1093/hmg/9.11.1709" target="_blank">Full Text</a>]
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Tsukamoto, K., Suzuki, H., Harada, D., Namba, A., Abe, S., Usami, S.
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<strong>Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.</strong>
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Europ. J. Hum. Genet. 11: 916-922, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14508505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14508505</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14508505" 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/10.1038/sj.ejhg.5201073" target="_blank">Full Text</a>]
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<a id="Usami1999" class="mim-anchor"></a>
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Usami, S., Abe, S., Weston, M. D., Shinkawa, H., Van Camp, G., Kimberling, W. J.
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<strong>Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.</strong>
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Hum. Genet. 104: 188-192, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10190331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10190331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10190331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004390050933" target="_blank">Full Text</a>]
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<a id="Valvassori1983" class="mim-anchor"></a>
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Valvassori, G. E.
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<strong>The large vestibular aqueduct and associated anomalies in the inner ear.</strong>
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Otolaryng. Clin. N. Am. 16: 95-101, 1983.
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Wang, Q.-J., Zhao, Y.-L., Rao, S.-Q., Guo, Y.-F., Yuan, H., Zong, L., Guan, J., Xu, B.-C., Wang, D.-Y., Han, M.-K., Lan, L., Zhai, S.-Q., Shen, Y.
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<strong>A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17718863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17718863</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17718863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2007.00862.x" target="_blank">Full Text</a>]
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Yang, T., Gurrola, J. G., II, Wu, H., Chiu, S. M., Wangemann, P., Snyder, P. M., Smith, R. J. H.
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<strong>Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.</strong>
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Am. J. Hum. Genet. 84: 651-657, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19426954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19426954</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19426954[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=19426954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2009.04.014" target="_blank">Full Text</a>]
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Yang, T., Vidarsson, H., Rodrigo-Blomqvist, S., Rosengren, S. S., Enerback, S., Smith, R. J. H.
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<strong>Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).</strong>
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Am. J. Hum. Genet. 80: 1055-1063, 2007. Note: Erratum: Am. J. Hum. Genet. 81: 634 only, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17503324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17503324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17503324[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=17503324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/518314" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Ada Hamosh - updated : 03/06/2019
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/12/2012<br>Marla J. F. O'Neill - updated : 2/15/2011<br>Ada Hamosh - updated : 10/6/2009<br>Marla J. F. O'Neill - updated : 6/1/2009<br>Cassandra L. Kniffin - updated : 10/26/2007<br>Marla J. F. O'Neill - reorganized : 8/9/2007<br>Victor A. McKusick - updated : 8/6/2001<br>George E. Tiller - updated : 9/19/2000<br>Victor A. McKusick - updated : 2/24/1998<br>Victor A. McKusick - updated : 12/2/1997
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Victor A. McKusick : 9/25/1995
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alopez : 01/26/2024<br>alopez : 01/26/2024<br>carol : 10/12/2023<br>carol : 08/24/2023<br>carol : 03/07/2019<br>alopez : 03/06/2019<br>carol : 06/21/2016<br>carol : 2/12/2016<br>alopez : 6/13/2012<br>ckniffin : 6/12/2012<br>carol : 4/24/2012<br>terry : 3/26/2012<br>wwang : 2/17/2011<br>terry : 2/15/2011<br>carol : 1/10/2011<br>alopez : 10/27/2009<br>alopez : 10/13/2009<br>terry : 10/6/2009<br>alopez : 7/31/2009<br>wwang : 6/2/2009<br>terry : 6/1/2009<br>terry : 12/12/2008<br>wwang : 11/7/2007<br>ckniffin : 10/26/2007<br>alopez : 8/9/2007<br>carol : 8/6/2001<br>alopez : 2/20/2001<br>alopez : 9/19/2000<br>alopez : 9/19/2000<br>dkim : 11/6/1998<br>alopez : 5/28/1998<br>alopez : 2/27/1998<br>terry : 2/24/1998<br>jenny : 12/2/1997<br>mark : 7/3/1997<br>mimadm : 11/3/1995<br>mark : 9/25/1995
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<h3>
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<span class="mim-font">
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<strong>#</strong> 600791
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<h3>
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DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; NSRD4<br />
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DILATED VESTIBULAR AQUEDUCT; DVA
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<strong>ORPHA:</strong> 90636;
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<strong>DO:</strong> 0110498;
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<th>
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Location
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<th>
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Phenotype
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<th>
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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1q23.2
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<span class="mim-font">
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Enlarged vestibular aqueduct, digenic
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<span class="mim-font">
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600791
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</span>
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<span class="mim-font">
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Autosomal recessive
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</span>
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<span class="mim-font">
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3
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<span class="mim-font">
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KCNJ10
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<span class="mim-font">
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602208
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5q35.1
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<span class="mim-font">
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Enlarged vestibular aqueduct
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<span class="mim-font">
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600791
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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FOXI1
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<span class="mim-font">
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601093
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7q22.3
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<span class="mim-font">
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Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
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</td>
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<td>
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<span class="mim-font">
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600791
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</span>
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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SLC26A4
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<span class="mim-font">
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605646
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</table>
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-4 (DFNB4) with enlarged vestibular aqueduct (EVA) is caused by homozygous or compound heterozygous mutation in the SLC26A4 gene (605646) on chromosome 7q22.</p><p>Mutation in the FOXI1 gene (601093) has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 (602208) genes.</p><p>Mutations in the SLC26A4 gene also cause Pendred syndrome (PDS; 274600), a disorder comprising congenital sensorineural hearing loss, cochlear abnormalities (EVA or Mondini dysplasia), and thyroid enlargement (goiter).</p>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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<p>DFNB4 with enlarged vestibular aqueduct is characterized by pre- or perilingual onset of sensorineural or mixed hearing loss, which may be fluctuating or progressive. The hearing loss is associated with temporal bone abnormalities, most commonly enlargement of the vestibular aqueduct, but it can also include the more severe Mondini dysplasia, a complex malformation in which the normal cochlear spiral of 2.5 turns is replaced by a hypoplastic coil of 1.5 turns (summary by Campbell et al., 2001 and Pryor et al., 2005). Enlarged vestibular aqueduct is the most common form of inner ear abnormality and can be associated with disequilibrium symptoms in a minority of patients (Valvassori, 1983; Jackler and de la Cruz, 1989; Levenson et al., 1989; Arcand et al., 1991; Belenky et al., 1993; Okumura et al., 1995). </p>
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<h4>
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<strong>Clinical Features</strong>
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</h4>
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<p>Griffith et al. (1996) reported a family in which 2 brothers had sensorineural hearing loss and enlarged vestibular aqueduct with no other abnormalities. Their parents were unaffected. The authors suggested autosomal recessive or X-linked inheritance with variable expressivity of the disorder in this family. </p><p>Abe et al. (1997) reported 3 families in which 2 sibs in each had congenital, high-frequency, fluctuating sensorineural hearing loss associated with enlargement of the vestibular aqueduct. Both parents in all 3 families were unaffected, suggesting autosomal recessive inheritance of the disorder. </p><p>Abe et al. (1999) studied 13 patients from 9 Japanese families and 2 patients from a Caucasian family who had congenital high frequency-dominant fluctuating sensorineural hearing loss and EVA on CT scan. Gadolidium-enhanced MRI confirmed the enlarged endolymphatic duct and sac. Hearing loss in some patient was progressive but with fluctuations, and about one-third had a history of vertigo. The perchlorate discharge test was performed in 8 patients from 6 of the families; all results were normal. Three of these families had been described previously by Abe et al. (1997). </p><p>Li et al. (1998) studied a large consanguineous family from southwest India in which 10 individuals ranging in age from 5 to 38 years were affected with congenital, profound, nonsyndromic autosomal recessive deafness. No goiter was palpable in any of the affected individuals and, although the perchlorate discharge test was not available, several other tests of thyroid function were normal. Axial and coronal computerized tomography of the temporal bone showed bilateral large vestibular aqueducts in all 3 affected individuals who were studied, with no Mondini-type cochlear malformation. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Baldwin et al. (1995) described a large Middle-Eastern Druze family with recessive nonsyndromic deafness and demonstrated linkage between deafness in this family and 7q31 with a lod score exceeding 5.5. Baldwin et al. (1995) designated the locus DFNB4. In addition, they found that deafness in 3 other Druze pedigrees, including 1 related to the linked family, was not linked to 7q31. Thus, there appear to be multiple nonallelic mutations for deafness in this genetic isolate. On the basis of a personal communication from Baldwin (1998), Li et al. (1998) purported that the Israeli-Druze family indeed had Pendred syndrome. Affected members of this family were later found to have goiters. </p><p>Everett et al. (1997) identified SLC26A4 (605646) as the gene mutant in Pendred syndrome (PDS; 274600) in 3 families. The gene maps to 7q31. They pointed out that DFNB4 also maps to 7q31 and considered it likely that the DFNB4 individuals reported actually have PDS, rather than mutations in another gene. </p><p>By linkage analysis in 9 Japanese families and 1 Caucasian family with sensorineural hearing loss associated with EVA, Abe et al. (1999) localized the gene responsible to 7q31, with a maximum multipoint lod score of 3.647. The EVA candidate gene region was found to lie in a 1.7-cM interval between flanking markers D7S501 and D7S2425. Although this region overlaps the region containing the gene responsible for Pendred syndrome, these patients did not fulfill the criteria for PDS. </p>
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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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</div>
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<span class="mim-text-font">
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<p><strong><em>Mutations in the SLC26A4 Gene</em></strong></p><p>
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In affected members of a large consanguineous family from southwest India with DFNB4 with EVA, Li et al. (1998) found linkage to chromosome 7q31 and demonstrated that affected individuals were compound homozygotes for 2 mutations in exon 13 of the PDS gene (605646.0004). </p><p>Usami et al. (1999) screened the SLC26A4 gene for mutations in 6 families with congenital nonsyndromic high frequency, fluctuating, sometimes progressive sensorineural hearing loss, and enlarged vestibular aqueduct diagnosed by CT. One patient had a history of vertigo; none had Mondini malformation. Affected individuals in 4 of the 6 families were homozygous or compound heterozygous for SLC26A4 mutations (605646.0009-605646.0015). </p><p>Campbell et al. (2001) found mutations in the SLC26A4 gene in 5 of 6 multiplex families with EVA (83%) and in 4 of 5 multiplex families with Mondini dysplasia (80%), implying that mutations in the SLC26A4 gene are the major genetic cause of these temporal abnormalities. In their analyses of Pendred syndrome and DFNB4, they found that the 2 most common mutations, T416P (605646.0006) and IVS8+1G-A (605646.0007), were present in 22% and 30% of families, respectively. </p><p>Recessive mutations in the anion transporter gene SLC26A4 are known to be responsible for Pendred syndrome and for nonsyndromic hearing loss associated with EVA. However, a large percentage of patients with these phenotypes lack mutations in the SLC26A4 coding region in one or both alleles. Yang et al. (2007) identified and characterized a key transcriptional regulatory element in the SLC26A4 promoter that binds FOXI1 (601093), which is a transcriptional activator of SLC26A4. They found 9 patients with Pendred syndrome or nonsyndromic EVA who were heterozygous for a novel -103T-C mutation (605646.0027) in this regulatory element of the SLC26A4 gene that interfered with FOXI1 binding and completely abolished FOXI1-mediated transcriptional activation. </p><p><strong><em>Mutation in the FOXI1 Gene</em></strong></p><p>
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In 2 families given a diagnosis of enlarged vestibular aqueduct, Yang et al. (2007) found heterozygosity for a mutation in the FOXI1 gene (601093.0002). Although both of these families were classified by the authors as 'nonsyndromic EVA,' in one of them goiter reminiscent of Pendred syndrome was noted. Both alleles of the SLC26A4 gene were wildtype. The FOXI1 mutation showed significantly decreased luciferase activation in promoter-reporter assays, suggesting that this variant compromised the ability of FOXI1 to transactivate SLC26A4 and was causally related to disease. </p><p><strong><em>Digenic Inheritance</em></strong></p><p>
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Yang et al. (2007) reported a patient with DFNB4 and EVA who was compound heterozygous for a mutation in 2 different genes. The patient had a heterozygous mutation in the SLC26A4 gene (605646.0028) and a heterozygous mutation in the FOXI1 gene (601093.0001). This finding was consistent with their observation that EVA occurs in the mouse mutant doubly heterozygous for mutations in these 2 genes, and the results supported a dosage-dependent model for the molecular pathogenesis of nonsyndromic EVA that involves SLC26A4 and its transcriptional regulatory machinery. Yang et al. (2007) stated the this was the first example of digenic inheritance to be verified as a cause of human deafness. </p><p>Yang et al. (2009) sequenced the KCNJ10 gene (602208) in 89 patients who had a clinical diagnosis of EVA/Pendred syndrome and were known to carry only 1 SLC26A4 coding sequence mutation; promoter mutations and deletions of SLC26A4 were excluded in this patient cohort. In 2 patients, Yang et al. (2009) identified missense mutations in KCNJ10 (P194H, 602208.0008 and R348C, 602208.0009, respectively). The former patient carried a F335L mutation in SLC26A4 (605646.0031), and the latter a splice site mutation (605646.0029). Both KCNJ10 mutations reduce potassium conductance activity, which is critical for generating and maintaining the endocochlear potential. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</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. (2000) compared 3 common Pendred syndrome allele variants with 3 PDS mutations reported only in individuals with nonsyndromic hearing loss. The mutations associated with Pendred syndrome exhibited complete loss of pendrin (SLC26A4)-induced chloride and iodide transport, while alleles unique to patients with DFNB4 were able to transport both iodide and chloride, albeit at a much lower level than wildtype pendrin. The authors hypothesized that the residual level of anion transport was sufficient to eliminate or postpone the onset of goiter in individuals with DFNB4. They proposed a model for pendrin function in the thyroid in which pendrin transports iodide across the apical membrane of the thyrocyte into the colloid space. </p><p>Tsukamoto et al. (2003) screened 10 Japanese families with Pendred syndrome, 32 Japanese families with bilateral sensorineural hearing loss associated with EVA, and 96 unrelated Japanese controls for mutations in the SLC26A4 gene. They identified causative mutations in 90% of the typical Pendred syndrome families and in 78.1% of those with sensorineural hearing loss with EVA. None of their patients had the Mondini malformation. Tsukamoto et al. (2003) noted that the same combination of mutations resulted in variable phenotypic expression (see, e.g., 605646.0011 and 605646.0012), suggesting that these 2 conditions are part of a continuous spectrum of disease. </p><p>Pryor et al. (2005) evaluated the clinical phenotype and SLC26A4 genotype of 39 patients with EVA from 31 families, definitively classifying 29 individuals. All 11 PDS patients had 2 mutant SLC26A4 alleles, whereas all 18 nonsyndromic EVA patients had either 1 or no SLC26A4 mutant alleles. Pryor et al. (2005) concluded that PDS and nonsyndromic EVA are distinct clinical and genetic entities, with PDS being a genetically homogeneous disorder caused by biallelic SLC26A4 mutations, and at least some cases of nonsyndromic EVA being associated with a single SLC26A4 mutation. They noted that the detection of a single mutant SLC26A4 allele is incompletely diagnostic without additional clinical evaluation to differentiate PDS from nonsyndromic EVA. </p><p>Albert et al. (2006) analyzed the SLC26A4 gene in 109 patients from 100 unrelated French Caucasian families with nonsyndromic deafness and enlarged vestibular aqueduct and no mutation in the GJB2 gene (121011). They identified 91 allelic variants in 40 unrelated families (prevalence of SLC26A4 mutations, 40%). There were 18 compound heterozygous and 6 homozygous families; Albert et al. (2006) noted that patients with biallelic mutations had more severe deafness, an earlier age of diagnosis, and a more fluctuating course than patients in whom no mutation was identified. Albert et al. (2006) estimated that up to 4% of nonsyndromic hearing impairment could be caused by SLC26A4 mutations. </p><p>In 71 families with EVA, Choi et al. (2009) used sequence analysis of SLC26A4 coding and conserved noncoding regions and CGH microarray analysis, and compared segregation of EVA among families with 2, 1, or no detectable mutant alleles of SLC26A4. EVA segregation ratios were similar in families with 1 or 2 mutant alleles, but the segregation ratio for families with 1 mutation was significantly higher than that of families with no SLC26A4 mutations. Haplotype analyses revealed discordant segregation of EVA with SLC26A4-linked STR markers in 8 of 24 families with no mutation in SLC26A4. Choi et al. (2009) concluded that families with EVA and 1 detectable mutation in SLC26A4 were likely to be segregating EVA as a trait caused by that mutation in combination with a second occult mutant allele of SLC26A4 or of another autosomal gene. In contrast, EVA appeared to be a nongenetic or complex trait with a significantly lower recurrence rate in families with no detectable SLC26A4 mutation. </p><p>Chattaraj et al. (2017) performed genotype-haplotype analysis and massively parallel sequencing of the SLC26A4 gene in patients with EVA and only 1 detected mutant allele in the SLC26A4 gene. The authors identified a shared novel haplotype, termed CEVA (Caucasian EVA), composed of 12 uncommon variants upstream of SLC26A4. The presence of the CEVA haplotype on 7 of 10 mutation-negative chromosomes in a National Institutes of Health discovery cohort and 6 of 6 mutation-negative chromosomes in a Danish replication cohort was higher than the observed prevalence of 28 of 1,006 Caucasian control chromosomes (p less than 0.0001 for each EVA cohort). The corresponding heterozygous carrier rate was 28 of 503 (5.6%). The prevalence of CEVA (11 of 126) was also increased among EVA chromosomes with no mutations detected (p = 0.0042). Chattaraj et al. (2017) concluded that the CEVA haplotype causally contributes to most cases of Caucasian EVA, being present in cases where only 1 mutation is detected by traditional exonic sequencing, and possibly in some cases where no mutation has been detected. </p>
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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>Wang et al. (2007) identified a total of 40 SLC26A4 mutations, including 25 novel mutations, among 107 Chinese patients with EVA from 101 families. Overall, SLC26A4 mutations were identified in 97.9% of patients. The most common mutation was a splice site transition (IVS7-2A-G; 605646.0029), which accounted for 57.6% of mutant alleles. Park et al. (2005) identified the same splice site mutation in 9 (20%) of 45 mutant alleles in a study of Korean EVA patients. In 15 patients from 13 unrelated Chinese families with deafness and EVA, Hu et al. (2007) identified the IVS7-2A-G mutation in 5 (22.3%) of 22 mutant alleles. Reviewing previously published studies involving Chinese patients, the authors stated that IVS7-2A-G accounted for 69.1% (76 of 110) of all mutant alleles in the Chinese, suggesting a founder effect. </p><p>Pourova et al. (2010) screened the SLC26A4 gene in 303 Czech patients with early-onset hearing loss. The patients were divided into 3 groups: 22 with EVA and/or Mondini malformation on imaging, 220 patients without imaging available, and 61 patients with EVA/Mondini-negative imaging studies. Biallelic SLC26A4 mutations were found in 6 (27.3%) patients in the first group, 2 (0.9%) patients in the second group, and none (0%) in the third group; 4 of the 8 patients with biallelic mutations had goiter, consistent with Pendred syndrome. Monoallelic SLC26A4 mutations were found in 3 (13.6%) patients in the first group, 12 (5.5%) patients in the second group, and 3 (4.9%) patients in the third group. The most frequent mutations were V138F (605646.0024) and L445W (605646.0018), in 18% and 8.9% alleles, respectively. Among 13 patients with bilateral EVA, 6 (46%) carried biallelic mutations. No biallelic mutations were found in EVA-negative patients, but 4.9% had monoallelic mutations. Overall, biallelic mutations were found in only 2.7% of all patients, but were more common in familial cases. The findings also suggested that a single SLC26A4 mutation may contribute to the phenotype, perhaps in concert with mutations in other genes. </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>Nomenclature</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In the title of their paper, Baldwin et al. (1995) referred to the form of deafness that maps to 7q31 as DFNB4. The same symbol was used by Fukushima et al. (1995) for a locus on chromosome 14 (600792). The chromosome 14 locus is, in fact, symbolized DFNB5. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Abe, S., Usami, S., Hoover, D. M., Cohn, E., Shinkawa, H., Kimberling, W. J.
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<strong>Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene.</strong>
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Am. J. Med. Genet. 82: 322-328, 1999.
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[PubMed: 10051166]
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</p>
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<li>
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<p class="mim-text-font">
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Abe, S., Usami, S., Shinkawa, H.
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<strong>Three familial cases of hearing loss associated with enlargement of the vestibular aqueduct.</strong>
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Albert, S., Blons, H., Jonard, L., Feldmann, D., Chauvin, P., Loundon, N., Sergent-Allaoui, A., Houang, M., Joannard, A., Schmerber, S., Delobel, B., Leman, J., and 18 others.
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<strong>SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.</strong>
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<p class="mim-text-font">
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Baldwin, C. T., Weiss, S., Farrer, L., De Stefano, A., Adair, R., Franklyn, B., Kidd, K. K., Korostishevsky, M., Bonne-Tamir, B.
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<strong>Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.</strong>
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Baldwin, C. T.
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Campbell, C., Cucci, R. A., Prasad, S., Green, G. E., Edeal, J. B., Galer, C. E., Karniski, L. P., Sheffield, V. C., Smith, R. J. H.
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<strong>Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.</strong>
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Hum. Mutat. 17: 403-411, 2001.
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Chattaraj, P., Munjal, T., Honda, K., Rendtorff, N. D., Ratay, J. S., Muskett, J. A., Risso, D. S., Roux, I., Gertz, E. M., Schaffer, A. A., Friedman, T. B., Morell, R. J., Tranebjaerg, L., Griffith, A. J.
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<strong>A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.</strong>
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J. Med. Genet. 54: 665-673, 2017. Note: Erratum: J. Med. Genet. 55: 846 only, 2018. Erratum: 6July, 2023. Advance Electronic Publication.
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[PubMed: 28780564]
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[Full Text: https://doi.org/10.1136/jmedgenet-2017-104721]
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</p>
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<p class="mim-text-font">
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Choi, B. Y., Madeo, A. C., King, K. A., Zalewski, C. K., Pryor, S. P., Muskett, J. A., Nance, W. E., Butman, J. A., Brewer, C. C., Griffith, A. J.
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<strong>Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. (Letter)</strong>
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[PubMed: 19578036]
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[Full Text: https://doi.org/10.1136/jmg.2009.067892]
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Everett, L. A., Glaser, B., Beck, J. C., Idol, J. R., Buchs, A., Heyman, M., Adawi, F., Hazani, E., Nassir, E., Baxevanis, A. D., Sheffield, V. C., Green, E. D.
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<strong>Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).</strong>
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Nature Genet. 17: 411-422, 1997.
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[PubMed: 9398842]
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Fukushima, K., Ramesh, A., Srikumari Srisailapathy, C. R., Ni, L., Chen, A., O'Neill, M., Van Camp, G., Coucke, P., Smith, S. D., Kenyon, J. B., Jain, P., Wilcox, E. R., Zbar, R. I. S., Smith, R. J. H.
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<strong>Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.</strong>
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<strong>Familial large vestibular aqueduct syndrome.</strong>
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Jackler, R. K., De La Cruz, A.
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Levenson, M. J., Parisier, S. C., Jacobs, M., Edelstein, D. R.
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Li, X. C., Everett, L. A., Lalwani, A. K., Desmukh, D., Friedman, T. B., Green, E. D., Wilcox, E. R.
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Park, H.-J., Lee, S.-J., Jin, H.-S., Lee, J. O., Go, S.-H., Jang, H. S., Moon, S.-K., Lee, S.-C., Chun, Y.-M., Lee, H.-K., Choi, J.-Y., Jung, S.-C., Griffith, A. J., Koo, S. K.
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Pourova, R., Janousek, P., Jurovcik, M., Dvorakova, M., Malikova, M., Raskova, D., Bendova, O., Leonardi, E., Murgia, A., Kabelka, Z., Astl, J., Seeman, P.
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[PubMed: 20597900]
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<p class="mim-text-font">
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Pryor, S. P., Madeo, A. C., Reynolds, J. C., Sarlis, N. J., Arnos, K. S., Nance, W. E., Yang, Y., Zalewski, C. K., Brewer, C. C., Butman, J. A., Griffith, A. J.
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<strong>SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. (Letter)</strong>
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[PubMed: 15689455]
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</p>
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<p class="mim-text-font">
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Scott, D. A., Wang, R., Kreman, T. M., Andrews, M., McDonald, J. M., Bishop, J. R., Smith, R. J. H., Karniski, L. P., Sheffield, V. C.
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<strong>Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).</strong>
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Hum. Molec. Genet. 9: 1709-1715, 2000.
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[PubMed: 10861298]
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[Full Text: https://doi.org/10.1093/hmg/9.11.1709]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Tsukamoto, K., Suzuki, H., Harada, D., Namba, A., Abe, S., Usami, S.
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<strong>Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.</strong>
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Europ. J. Hum. Genet. 11: 916-922, 2003.
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[PubMed: 14508505]
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</p>
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<li>
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<p class="mim-text-font">
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Usami, S., Abe, S., Weston, M. D., Shinkawa, H., Van Camp, G., Kimberling, W. J.
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<strong>Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.</strong>
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|
Hum. Genet. 104: 188-192, 1999.
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[PubMed: 10190331]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Valvassori, G. E.
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<strong>The large vestibular aqueduct and associated anomalies in the inner ear.</strong>
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Otolaryng. Clin. N. Am. 16: 95-101, 1983.
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<p class="mim-text-font">
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Wang, Q.-J., Zhao, Y.-L., Rao, S.-Q., Guo, Y.-F., Yuan, H., Zong, L., Guan, J., Xu, B.-C., Wang, D.-Y., Han, M.-K., Lan, L., Zhai, S.-Q., Shen, Y.
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<p class="mim-text-font">
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Yang, T., Gurrola, J. G., II, Wu, H., Chiu, S. M., Wangemann, P., Snyder, P. M., Smith, R. J. H.
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<strong>Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.</strong>
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Am. J. Hum. Genet. 84: 651-657, 2009.
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[PubMed: 19426954]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.04.014]
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</p>
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<li>
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<p class="mim-text-font">
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Yang, T., Vidarsson, H., Rodrigo-Blomqvist, S., Rosengren, S. S., Enerback, S., Smith, R. J. H.
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<strong>Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).</strong>
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Am. J. Hum. Genet. 80: 1055-1063, 2007. Note: Erratum: Am. J. Hum. Genet. 81: 634 only, 2007.
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[PubMed: 17503324]
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[Full Text: https://doi.org/10.1086/518314]
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Ada Hamosh - updated : 03/06/2019<br>Cassandra L. Kniffin - updated : 6/12/2012<br>Marla J. F. O'Neill - updated : 2/15/2011<br>Ada Hamosh - updated : 10/6/2009<br>Marla J. F. O'Neill - updated : 6/1/2009<br>Cassandra L. Kniffin - updated : 10/26/2007<br>Marla J. F. O'Neill - reorganized : 8/9/2007<br>Victor A. McKusick - updated : 8/6/2001<br>George E. Tiller - updated : 9/19/2000<br>Victor A. McKusick - updated : 2/24/1998<br>Victor A. McKusick - updated : 12/2/1997
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Victor A. McKusick : 9/25/1995
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