2297 lines
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Entry
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- #611102 - DEAFNESS-INFERTILITY SYNDROME; DIS
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- OMIM
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<p>
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<span class="h4">#611102</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="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="/clinicalSynopsis/611102"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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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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<div><a href="https://clinicaltrials.gov/search?cond=DEAFNESS-INFERTILITY SYNDROME" 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=12545&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="https://www.ncbi.nlm.nih.gov/books/NBK598310/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8194" 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://medlineplus.gov/genetics/condition/deafness-infertility-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611102[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=94064" 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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<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>SNOMEDCT:</strong> 700489002<br />
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<strong>ORPHA:</strong> 94064<br />
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">ICD+</a>
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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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611102
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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-INFERTILITY SYNDROME; DIS
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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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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DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY<br />
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CHROMOSOME 15q15.3 DELETION SYNDROME
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/15/145?start=-3&limit=10&highlight=145">15q15.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:43300001-44500000&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">15:43,300,001-44,500,000</a> </span>
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</em>
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</strong>
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</p>
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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="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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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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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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<a href="/geneMap/15/145?start=-3&limit=10&highlight=145">
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15q15.3
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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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Deafness and male infertility
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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/611102"> 611102 </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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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved">4</abbr>
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</span>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/611102" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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<p />
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- 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 />
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<strong> HEAD & NECK </strong>
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<em> Ears </em>
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<span class="mim-font">
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- Hearing loss, sensorineural (bilateral, prelingual) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970190&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970190</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <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 />
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<span class="h5 mim-font">
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<strong> GENITOURINARY </strong>
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<div style="margin-left: 2em;">
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<span class="h5 mim-font">
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<em> Internal Genitalia (Male) </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Asthenoteratozoospermia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0403823&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0403823</a>]</span><br />
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- A contiguous gene syndrome caused by deletion of the stereocilin gene (STRC, <a href="/entry/606440">606440</a>) and the sperm-associated cation channel-2 gene (CATSPER2, <a href="/entry/607249">607249</a>) gene<br />
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome on chromosome 15q15.3. Two of the genes residing in this region are STRC (<a href="/entry/606440">606440</a>) and CATSPER2 (<a href="/entry/607249">607249</a>).</p><p>STRC alterations cause autosomal recessive nonsyndromic sensorineural deafness-16 (DFNB16; <a href="/entry/603720">603720</a>).</p>
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</span>
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<div>
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<br />
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Deafness-infertility syndrome (DIS), characterized by early-onset deafness in both males and females and exclusive male infertility, is caused by homozygous deletion of the STRC and CATSPER2 genes on chromosome 15q15.5 (summary by <a href="#4" class="mim-tip-reference" title="Vona, B., Hofrichter, M. A. H., Neuner, C., Schroder, J., Gehrig, A., Hennermann, J. B., Kraus, F., Shehata-Dieler, W., Klopocki, E., Nanda, I., Haaf, T. <strong>DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.</strong> Clin. Genet. 87: 49-55, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26011646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26011646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26011646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/cge.12332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26011646">Vona et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26011646" 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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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#2" class="mim-tip-reference" title="Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others. <strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong> Am. J. Hum. Genet. 71: 1467-1474, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12434312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12434312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12434312[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/10.1086/344781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12434312">Dgany et al. (2002)</a> reported a nonconsanguineous French family in which a 56-year-old male and his 2 brothers suffered from type I congenital dyserythropoietic anemia (CDA1; <a href="/entry/224120">224120</a>), infertility, and nonsyndromic deafness. Further examination of the 3 brothers by <a href="#1" class="mim-tip-reference" title="Avidan, N., Tamary, H., Dgany, O., Cattan, D., Pariente, A., Thulliez, M., Borot, N., Moati, L., Barthelme, A., Shalmon, L., Krasnov, T., Ben-Asher, E., and 9 others. <strong>CATSPER2, a human autosomal nonsyndromic male infertility gene.</strong> Europ. J. Hum. Genet. 11: 497-502, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12825070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12825070</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12825070">Avidan et al. (2003)</a> revealed a moderate symmetric sensorineural hearing loss of 40 dB involving all frequencies. Semen analysis showed a normal volume and sperm concentration but abnormal motility and morphology, indicative of asthenoteratozoospermia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12825070+12434312" 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="#5" class="mim-tip-reference" title="Zhang, Y., Malekpour, M., Al-Madani, N., Kahrizi, K., Zanganeh, M., Lohr, N. J., Mohseni, M., Mojahedi, F., Daneshi, A., Najmabadi, H., Smith, R. J. H. <strong>Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.</strong> J. Med. Genet. 44: 233-240, 2007. Note: Erratum: J. Med. Genet. 44: 544 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17098888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17098888</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17098888[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2006.045765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17098888">Zhang et al. (2007)</a> described 3 consanguineous unrelated Iranian families segregating autosomal recessive nonsyndromic deafness. In each family, affected individuals had prelingual auditory impairment with normal vestibular function and no syndromic features. Sperm motility was assessed in 3 males from 2 of the families, and all 3 had reductions in motility and viability consistent with asthenoteratozoospermia; in the third family, the only affected male was too young to assess. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17098888" 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="Knijnenburg, J., Oberstein, S. A. J. L., Frei, K., Lucas, T., Gijsbers, A. C. J., Ruivenkamp, C. A. L., Tanke, H. J., Szuhai, K. <strong>A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents.</strong> J. Med. Genet. 46: 412-417, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19246478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19246478</a>] [<a href="https://doi.org/10.1136/jmg.2008.063685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19246478">Knijnenburg et al. (2009)</a> described a 10-year-old boy, born of nonconsanguineous parents, who had progressive bilateral sensorineural hearing loss with moderate hearing impairment for all frequencies. He had mental retardation, short stature, normal head circumference, and dysmorphic features consisting of metopic ridge, low set ears, high nasal bridge and protruding columella, high-arched palate, small palpebral fissures, thick eyelashes, and synophrys. He also displayed brachydactyly and had intermittent swelling of hands and feet with no known cause. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19246478" 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="#4" class="mim-tip-reference" title="Vona, B., Hofrichter, M. A. H., Neuner, C., Schroder, J., Gehrig, A., Hennermann, J. B., Kraus, F., Shehata-Dieler, W., Klopocki, E., Nanda, I., Haaf, T. <strong>DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.</strong> Clin. Genet. 87: 49-55, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26011646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26011646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26011646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/cge.12332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26011646">Vona et al. (2015)</a> reported 3 patients, including 2 boys and a girl, with onset of sensorineural deafness between birth and early childhood. All had homozygous deletions of the STRC and CATSPER2 genes. All were prepubertal at the time of study and were not evaluated for fertility. One boy had additional congenital abnormalities and comorbidities, which were likely independent of the deafness. The patients were ascertained from a larger cohort of 94 GJB2 (<a href="/entry/121011">121011</a>)/GJB6 (<a href="/entry/604418">604418</a>)-negative pediatric patients with sensorineural hearing loss who underwent genetic analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26011646" 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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<div>
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<br />
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<div>
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<a id="inheritance" class="mim-anchor"></a>
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<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>The transmission pattern of DIS in the families reported by <a href="#1" class="mim-tip-reference" title="Avidan, N., Tamary, H., Dgany, O., Cattan, D., Pariente, A., Thulliez, M., Borot, N., Moati, L., Barthelme, A., Shalmon, L., Krasnov, T., Ben-Asher, E., and 9 others. <strong>CATSPER2, a human autosomal nonsyndromic male infertility gene.</strong> Europ. J. Hum. Genet. 11: 497-502, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12825070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12825070</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12825070">Avidan et al. (2003)</a> and <a href="#5" class="mim-tip-reference" title="Zhang, Y., Malekpour, M., Al-Madani, N., Kahrizi, K., Zanganeh, M., Lohr, N. J., Mohseni, M., Mojahedi, F., Daneshi, A., Najmabadi, H., Smith, R. J. H. <strong>Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.</strong> J. Med. Genet. 44: 233-240, 2007. Note: Erratum: J. Med. Genet. 44: 544 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17098888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17098888</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17098888[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2006.045765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17098888">Zhang et al. (2007)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12825070+17098888" 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="Zhang, Y., Malekpour, M., Al-Madani, N., Kahrizi, K., Zanganeh, M., Lohr, N. J., Mohseni, M., Mojahedi, F., Daneshi, A., Najmabadi, H., Smith, R. J. H. <strong>Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.</strong> J. Med. Genet. 44: 233-240, 2007. Note: Erratum: J. Med. Genet. 44: 544 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17098888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17098888</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17098888[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2006.045765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17098888">Zhang et al. (2007)</a> performed a genomewide screen using STRP marker analysis in 2 consanguineous unrelated Iranian families with deafness and male infertility and identified a single region of homozygosity by descent in affected individuals on chromosome 15q15.1-q15.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17098888" 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 3 French brothers with type I CDA, asthenoteratozoospermia, and nonsyndromic deafness, <a href="#2" class="mim-tip-reference" title="Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others. <strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong> Am. J. Hum. Genet. 71: 1467-1474, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12434312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12434312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12434312[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/10.1086/344781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12434312">Dgany et al. (2002)</a> identified homozygosity for a point mutation within the codanin gene (<a href="/entry/607465#0003">607465.0003</a>) as the cause of the type I CDA. <a href="#1" class="mim-tip-reference" title="Avidan, N., Tamary, H., Dgany, O., Cattan, D., Pariente, A., Thulliez, M., Borot, N., Moati, L., Barthelme, A., Shalmon, L., Krasnov, T., Ben-Asher, E., and 9 others. <strong>CATSPER2, a human autosomal nonsyndromic male infertility gene.</strong> Europ. J. Hum. Genet. 11: 497-502, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12825070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12825070</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12825070">Avidan et al. (2003)</a> found that the 3 sibs were also homozygous for an approximately 70-kb deletion in chromosome 15q15, which removed the entire STRC gene and the last 2 exons (225 bp) of the CATSPER2 gene. <a href="#1" class="mim-tip-reference" title="Avidan, N., Tamary, H., Dgany, O., Cattan, D., Pariente, A., Thulliez, M., Borot, N., Moati, L., Barthelme, A., Shalmon, L., Krasnov, T., Ben-Asher, E., and 9 others. <strong>CATSPER2, a human autosomal nonsyndromic male infertility gene.</strong> Europ. J. Hum. Genet. 11: 497-502, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12825070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12825070</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12825070">Avidan et al. (2003)</a> suggested that lack of functional stereocilin, which is mutated in DFNB16 (<a href="/entry/603720">603720</a>), and CATSPER2, a voltage-gated cation channel expressed exclusively in spermatozoa, might explain the observed deafness and male infertility phenotypes, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12825070+12434312" 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 affected members of 3 consanguineous Iranian families with nonsyndromic deafness and male infertility, <a href="#5" class="mim-tip-reference" title="Zhang, Y., Malekpour, M., Al-Madani, N., Kahrizi, K., Zanganeh, M., Lohr, N. J., Mohseni, M., Mojahedi, F., Daneshi, A., Najmabadi, H., Smith, R. J. H. <strong>Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.</strong> J. Med. Genet. 44: 233-240, 2007. Note: Erratum: J. Med. Genet. 44: 544 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17098888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17098888</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17098888[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2006.045765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17098888">Zhang et al. (2007)</a> identified homozygosity for an approximately 100-kb deleted region on chromosome 15q15.3 involving KIAA0377 (<a href="/entry/610979">610979</a>), CKMT1B (<a href="/entry/123290">123290</a>), STRC, and CATSPER2. The families did not share identical deletions, and haplotype analysis indicated that they did not share a common ancestor. <a href="#5" class="mim-tip-reference" title="Zhang, Y., Malekpour, M., Al-Madani, N., Kahrizi, K., Zanganeh, M., Lohr, N. J., Mohseni, M., Mojahedi, F., Daneshi, A., Najmabadi, H., Smith, R. J. H. <strong>Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.</strong> J. Med. Genet. 44: 233-240, 2007. Note: Erratum: J. Med. Genet. 44: 544 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17098888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17098888</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17098888[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2006.045765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17098888">Zhang et al. (2007)</a> noted that the hearing loss phenotype in these families was similar by audioprofiling to that of DFNB16, suggesting that deletion of STRC is causally related to their deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17098888" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 10-year-old boy, born of nonconsanguineous parents, who had progressive bilateral sensorineural hearing loss, mental retardation, and dysmorphic features, <a href="#3" class="mim-tip-reference" title="Knijnenburg, J., Oberstein, S. A. J. L., Frei, K., Lucas, T., Gijsbers, A. C. J., Ruivenkamp, C. A. L., Tanke, H. J., Szuhai, K. <strong>A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents.</strong> J. Med. Genet. 46: 412-417, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19246478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19246478</a>] [<a href="https://doi.org/10.1136/jmg.2008.063685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19246478">Knijnenburg et al. (2009)</a> identified homozygosity for a 90-kb deletion on chromosome 15q15.3, containing 4 genes, including the STRC gene. The unaffected parents were hemizygous carriers. By screening healthy control individuals and reviewing publicly available copy number variation (CNV) data, <a href="#3" class="mim-tip-reference" title="Knijnenburg, J., Oberstein, S. A. J. L., Frei, K., Lucas, T., Gijsbers, A. C. J., Ruivenkamp, C. A. L., Tanke, H. J., Szuhai, K. <strong>A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents.</strong> J. Med. Genet. 46: 412-417, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19246478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19246478</a>] [<a href="https://doi.org/10.1136/jmg.2008.063685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19246478">Knijnenburg et al. (2009)</a> estimated the frequency of hemizygous deletion carriers to be about 1.6%. The authors noted that this case illustrates the importance of not automatically eliminating registered CNVs from further analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19246478" 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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Avidan, N., Tamary, H., Dgany, O., Cattan, D., Pariente, A., Thulliez, M., Borot, N., Moati, L., Barthelme, A., Shalmon, L., Krasnov, T., Ben-Asher, E., and 9 others.
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<strong>CATSPER2, a human autosomal nonsyndromic male infertility gene.</strong>
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Europ. J. Hum. Genet. 11: 497-502, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12825070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12825070</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12825070" 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.5200991" target="_blank">Full Text</a>]
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Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others.
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<strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong>
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Am. J. Hum. Genet. 71: 1467-1474, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12434312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12434312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12434312[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=12434312" 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/10.1086/344781" target="_blank">Full Text</a>]
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Knijnenburg, J., Oberstein, S. A. J. L., Frei, K., Lucas, T., Gijsbers, A. C. J., Ruivenkamp, C. A. L., Tanke, H. J., Szuhai, K.
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<strong>A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents.</strong>
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J. Med. Genet. 46: 412-417, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19246478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19246478</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19246478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2008.063685" target="_blank">Full Text</a>]
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Vona, B., Hofrichter, M. A. H., Neuner, C., Schroder, J., Gehrig, A., Hennermann, J. B., Kraus, F., Shehata-Dieler, W., Klopocki, E., Nanda, I., Haaf, T.
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<strong>DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.</strong>
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Clin. Genet. 87: 49-55, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26011646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26011646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26011646[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=26011646" 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/cge.12332" target="_blank">Full Text</a>]
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Zhang, Y., Malekpour, M., Al-Madani, N., Kahrizi, K., Zanganeh, M., Lohr, N. J., Mohseni, M., Mojahedi, F., Daneshi, A., Najmabadi, H., Smith, R. J. H.
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<strong>Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.</strong>
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J. Med. Genet. 44: 233-240, 2007. Note: Erratum: J. Med. Genet. 44: 544 only, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17098888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17098888</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17098888[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=17098888" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - updated : 4/2/2015
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Marla J. F. O'Neill - updated : 9/28/2009
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill : 6/8/2007
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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alopez : 07/25/2024
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alopez : 05/24/2022<br>carol : 04/03/2015<br>mcolton : 4/3/2015<br>ckniffin : 4/2/2015<br>terry : 6/8/2012<br>wwang : 9/28/2009<br>carol : 1/14/2009<br>wwang : 6/8/2007
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<strong>#</strong> 611102
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DEAFNESS-INFERTILITY SYNDROME; DIS
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DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY<br />
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CHROMOSOME 15q15.3 DELETION SYNDROME
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<strong>SNOMEDCT:</strong> 700489002;
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<strong>ORPHA:</strong> 94064;
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Cytogenetic location: 15q15.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:43,300,001-44,500,000 </span>
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<strong>Gene-Phenotype Relationships</strong>
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Phenotype
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Phenotype <br /> MIM number
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15q15.3
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Deafness and male infertility
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611102
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Autosomal recessive
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<span class="mim-font">
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4
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<p>A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome on chromosome 15q15.3. Two of the genes residing in this region are STRC (606440) and CATSPER2 (607249).</p><p>STRC alterations cause autosomal recessive nonsyndromic sensorineural deafness-16 (DFNB16; 603720).</p>
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<strong>Description</strong>
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<p>Deafness-infertility syndrome (DIS), characterized by early-onset deafness in both males and females and exclusive male infertility, is caused by homozygous deletion of the STRC and CATSPER2 genes on chromosome 15q15.5 (summary by Vona et al., 2015). </p>
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<strong>Clinical Features</strong>
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<p>Dgany et al. (2002) reported a nonconsanguineous French family in which a 56-year-old male and his 2 brothers suffered from type I congenital dyserythropoietic anemia (CDA1; 224120), infertility, and nonsyndromic deafness. Further examination of the 3 brothers by Avidan et al. (2003) revealed a moderate symmetric sensorineural hearing loss of 40 dB involving all frequencies. Semen analysis showed a normal volume and sperm concentration but abnormal motility and morphology, indicative of asthenoteratozoospermia. </p><p>Zhang et al. (2007) described 3 consanguineous unrelated Iranian families segregating autosomal recessive nonsyndromic deafness. In each family, affected individuals had prelingual auditory impairment with normal vestibular function and no syndromic features. Sperm motility was assessed in 3 males from 2 of the families, and all 3 had reductions in motility and viability consistent with asthenoteratozoospermia; in the third family, the only affected male was too young to assess. </p><p>Knijnenburg et al. (2009) described a 10-year-old boy, born of nonconsanguineous parents, who had progressive bilateral sensorineural hearing loss with moderate hearing impairment for all frequencies. He had mental retardation, short stature, normal head circumference, and dysmorphic features consisting of metopic ridge, low set ears, high nasal bridge and protruding columella, high-arched palate, small palpebral fissures, thick eyelashes, and synophrys. He also displayed brachydactyly and had intermittent swelling of hands and feet with no known cause. </p><p>Vona et al. (2015) reported 3 patients, including 2 boys and a girl, with onset of sensorineural deafness between birth and early childhood. All had homozygous deletions of the STRC and CATSPER2 genes. All were prepubertal at the time of study and were not evaluated for fertility. One boy had additional congenital abnormalities and comorbidities, which were likely independent of the deafness. The patients were ascertained from a larger cohort of 94 GJB2 (121011)/GJB6 (604418)-negative pediatric patients with sensorineural hearing loss who underwent genetic analysis. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of DIS in the families reported by Avidan et al. (2003) and Zhang et al. (2007) was consistent with autosomal recessive inheritance. </p>
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<strong>Mapping</strong>
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<p>Zhang et al. (2007) performed a genomewide screen using STRP marker analysis in 2 consanguineous unrelated Iranian families with deafness and male infertility and identified a single region of homozygosity by descent in affected individuals on chromosome 15q15.1-q15.3. </p>
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<strong>Molecular Genetics</strong>
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<p>In 3 French brothers with type I CDA, asthenoteratozoospermia, and nonsyndromic deafness, Dgany et al. (2002) identified homozygosity for a point mutation within the codanin gene (607465.0003) as the cause of the type I CDA. Avidan et al. (2003) found that the 3 sibs were also homozygous for an approximately 70-kb deletion in chromosome 15q15, which removed the entire STRC gene and the last 2 exons (225 bp) of the CATSPER2 gene. Avidan et al. (2003) suggested that lack of functional stereocilin, which is mutated in DFNB16 (603720), and CATSPER2, a voltage-gated cation channel expressed exclusively in spermatozoa, might explain the observed deafness and male infertility phenotypes, respectively. </p><p>In affected members of 3 consanguineous Iranian families with nonsyndromic deafness and male infertility, Zhang et al. (2007) identified homozygosity for an approximately 100-kb deleted region on chromosome 15q15.3 involving KIAA0377 (610979), CKMT1B (123290), STRC, and CATSPER2. The families did not share identical deletions, and haplotype analysis indicated that they did not share a common ancestor. Zhang et al. (2007) noted that the hearing loss phenotype in these families was similar by audioprofiling to that of DFNB16, suggesting that deletion of STRC is causally related to their deafness. </p><p>In a 10-year-old boy, born of nonconsanguineous parents, who had progressive bilateral sensorineural hearing loss, mental retardation, and dysmorphic features, Knijnenburg et al. (2009) identified homozygosity for a 90-kb deletion on chromosome 15q15.3, containing 4 genes, including the STRC gene. The unaffected parents were hemizygous carriers. By screening healthy control individuals and reviewing publicly available copy number variation (CNV) data, Knijnenburg et al. (2009) estimated the frequency of hemizygous deletion carriers to be about 1.6%. The authors noted that this case illustrates the importance of not automatically eliminating registered CNVs from further analysis. </p>
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<strong>REFERENCES</strong>
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Avidan, N., Tamary, H., Dgany, O., Cattan, D., Pariente, A., Thulliez, M., Borot, N., Moati, L., Barthelme, A., Shalmon, L., Krasnov, T., Ben-Asher, E., and 9 others.
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<strong>CATSPER2, a human autosomal nonsyndromic male infertility gene.</strong>
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Europ. J. Hum. Genet. 11: 497-502, 2003.
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[PubMed: 12825070]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200991]
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Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others.
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<strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong>
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Am. J. Hum. Genet. 71: 1467-1474, 2002.
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[PubMed: 12434312]
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[Full Text: https://doi.org/10.1086/344781]
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Knijnenburg, J., Oberstein, S. A. J. L., Frei, K., Lucas, T., Gijsbers, A. C. J., Ruivenkamp, C. A. L., Tanke, H. J., Szuhai, K.
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<strong>A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents.</strong>
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J. Med. Genet. 46: 412-417, 2009.
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[PubMed: 19246478]
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[Full Text: https://doi.org/10.1136/jmg.2008.063685]
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Vona, B., Hofrichter, M. A. H., Neuner, C., Schroder, J., Gehrig, A., Hennermann, J. B., Kraus, F., Shehata-Dieler, W., Klopocki, E., Nanda, I., Haaf, T.
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<strong>DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.</strong>
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Clin. Genet. 87: 49-55, 2015.
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[PubMed: 26011646]
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[Full Text: https://doi.org/10.1111/cge.12332]
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Zhang, Y., Malekpour, M., Al-Madani, N., Kahrizi, K., Zanganeh, M., Lohr, N. J., Mohseni, M., Mojahedi, F., Daneshi, A., Najmabadi, H., Smith, R. J. H.
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<strong>Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.</strong>
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J. Med. Genet. 44: 233-240, 2007. Note: Erratum: J. Med. Genet. 44: 544 only, 2007.
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[PubMed: 17098888]
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[Full Text: https://doi.org/10.1136/jmg.2006.045765]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 4/2/2015<br>Marla J. F. O'Neill - updated : 9/28/2009
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Creation Date:
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Marla J. F. O'Neill : 6/8/2007
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 07/25/2024<br>alopez : 05/24/2022<br>carol : 04/03/2015<br>mcolton : 4/3/2015<br>ckniffin : 4/2/2015<br>terry : 6/8/2012<br>wwang : 9/28/2009<br>carol : 1/14/2009<br>wwang : 6/8/2007
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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