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Entry
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- #221200 - DEAFNESS AND MYOPIA; DFNMYP
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- OMIM
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<p>
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<span class="h4">#221200</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/221200"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#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 style="display: table-cell;">External Links</div>
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</a>
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</h4>
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</div>
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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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</span>
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</div>
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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 AND MYOPIA" 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=22292&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/NBK269029/" 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://medlineplus.gov/genetics/condition/deafness-and-myopia-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=221200[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=363396" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel-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:0111628" 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/221200" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 363396<br />
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<strong>DO:</strong> 0111628<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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221200
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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 AND MYOPIA; DFNMYP
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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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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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/13/244?start=-3&limit=10&highlight=244">
|
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13q31.1
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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 myopia
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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/221200"> 221200 </a>
|
|
</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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<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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SLITRK6
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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/609681"> 609681 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/221200" 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="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/221200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/221200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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<div style="margin-left: 2em;">
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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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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Hearing loss, prelingual sensorineural, moderate to severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806276&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806276</a>]</span><br /> -
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Symmetric deterioration of hearing loss and speech reception with age <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011997&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011997</a>]</span><br /> -
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Severe to profound hearing impairment by early adulthood <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011998&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011998</a>]</span><br /> -
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Absent distortion product otoacoustic emissions (OAEs) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011999&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011999</a>]</span><br /> -
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Absent ipsilateral middle ear muscle reflexes (in older patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012000&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012000</a>]</span><br /> -
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Increase in amplitude and duration of cochlear microphonic (CM) (in young patients)<br /> -
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Absent cochlear microphonic (in older patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012002</a>]</span><br /> -
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Bilateral dys-synchronized auditory brainstem responses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012003&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012003</a>]</span><br /> -
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No reproducible waves I, III, or V at high intensities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012004&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012004</a>]</span><br /> -
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Absence of vestibular evoked myogenic potentials (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012005</a>]</span><br />
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</span>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Eyes </em>
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</span>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- High myopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34187009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34187009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271183&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271183</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011003</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011003</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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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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</span>
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</div>
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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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- Caused by mutation in the SLIT- and NTRK-like family, member-6 gene (SLITRK6, <a href="/entry/609681#0001">609681.0001</a>)<br />
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</span>
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</div>
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</div>
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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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</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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<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 of evidence that deafness and myopia (DFNMYP) is caused by homozygous mutation in the SLITRK6 gene (<a href="/entry/609681">609681</a>) on chromosome 13q31.</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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<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>In a survey of mental retardation in an inbred Amish community, <a href="#1" class="mim-tip-reference" title="Eldridge, R., Berlin, C. I., Money, J. W., McKusick, V. A. <strong>Cochlear deafness, myopia, and intellectual impairment in an Amish family: a new syndrome of hereditary deafness.</strong> Arch. Otolaryng. 88: 49-54, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5660029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5660029</a>] [<a href="https://doi.org/10.1001/archotol.1968.00770010051010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5660029">Eldridge et al. (1968)</a> observed 4 of 7 sibs in a family (2 males, 2 females) who also had deafness and myopia. The extent of intellectual impairment was difficult to evaluate. Sensory deprivation might have been a main factor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5660029" 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="Ohlsson, L. <strong>Congenital renal disease, deafness and myopia in one family.</strong> Acta Med. Scand. 174: 77-84, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14042467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14042467</a>] [<a href="https://doi.org/10.1111/j.0954-6820.1963.tb07893.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14042467">Ohlsson (1963)</a> described deafness and severe myopia in 3 boys in a sibship of 7. One was stated to be of somewhat low intelligence. All 3 plus 3 other sibs and the mother had albuminuria or hematuria. <a href="#4" class="mim-tip-reference" title="Ohlsson, L. <strong>Congenital renal disease, deafness and myopia in one family.</strong> Acta Med. Scand. 174: 77-84, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14042467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14042467</a>] [<a href="https://doi.org/10.1111/j.0954-6820.1963.tb07893.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14042467">Ohlsson (1963)</a> concluded that the family did not have Alport syndrome (<a href="/entry/104200">104200</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14042467" 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="Tekin, M., Chioza, B. A., Matsumoto, Y., Diaz-Horta, O., Cross, H. E., Duman, D., Kokotas, H., Moore-Barton, H. L., Sakoori, K., Ota, M., Odaka, Y. S., Foster, J., II, and 13 others. <strong>SLITRK6 mutations cause myopia and deafness in humans and mice.</strong> J. Clin. Invest. 123: 2094-2102, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23543054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23543054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23543054[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/10.1172/JCI65853" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23543054">Tekin et al. (2013)</a> studied 2 families with deafness and high myopia and mutation in the SLITRK6 gene. One was a consanguineous Old Order Amish family in which 3 sibs had congenital high myopia, with refraction error ranging from -7.25 to -10.25 diopters corrected by glasses, and prelingual-onset moderate to severe bilateral sensorineural hearing loss necessitating hearing aids. Their parents had low myopia with onset in their youth, and normal hearing. The second family was a consanguineous Turkish family in which 4 sibs had high myopia, with refraction error ranging from -6.0 to -11.0 diopters, and prelingual-onset moderate to profound sensorineural hearing loss. Their parents and 2 unaffected sibs did not have hearing loss; the father and 2 unaffected sibs had mild adult-onset myopia of less than -2 diopters. Affected individuals in both families did not exhibit delays in gross motor development, and none had balance problems, vertigo, dizziness, or spontaneous or positional nystagmus. CT scan of the temporal bone was normal in 1 affected individual from each family. Clinical examination confirmed the absence of additional findings, with normal facial appearance and normal neurologic, connective tissue, and ocular manifestations. None of the affected individuals had retinitis pigmentosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23543054" 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="Morlet, T., Rabinowitz, M. R., Looney, L. R., Riegner, T., Greenwood, L. A., Sherman, E. A., Achilly, N., Zhu, A., Yoo, E., O'Reilly, R. C., Jinks, R. N., Puffenberger, E. G., Heaps, A., Morton, H., Strauss, K. A. <strong>A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.</strong> Laryngoscope 124: 95-103, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23946138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23946138</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23946138[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/10.1002/lary.24361" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23946138">Morlet et al. (2014)</a> provided a longitudinal description of the auditory phenotype in 9 patients from an Old Order Amish community with deafness and myopia and the same mutation in the SLITRK6 gene (Q414X; <a href="/entry/609681#0001">609681.0001</a>) that had been identified in Old Order Amish by <a href="#5" class="mim-tip-reference" title="Tekin, M., Chioza, B. A., Matsumoto, Y., Diaz-Horta, O., Cross, H. E., Duman, D., Kokotas, H., Moore-Barton, H. L., Sakoori, K., Ota, M., Odaka, Y. S., Foster, J., II, and 13 others. <strong>SLITRK6 mutations cause myopia and deafness in humans and mice.</strong> J. Clin. Invest. 123: 2094-2102, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23543054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23543054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23543054[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/10.1172/JCI65853" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23543054">Tekin et al. (2013)</a>. The patients ranged in age from 4 months to 36 years. The 4 oldest patients, who were in the second to fourth decade of life, had absent ipsilateral middle ear muscle reflexes. Distortion product otoacoustic emissions (OAEs) were absent in all ears tested; the cochlear microphonic (CM) was increased in amplitude and duration in young patients but absent in the 2 oldest subjects. Auditory brainstem responses were dyssynchronized bilaterally with no reproducible waves I, III, or V at high intensities. Hearing loss and speech reception thresholds deteriorated symmetrically with age, which resulted in severe to profound hearing impairment by early adulthood. Vestibular evoked myogenic potentials were normal in 3 ears and absent in 1. Noting the absence of OAEs with large CMs and wave I recordings at high intensities, <a href="#3" class="mim-tip-reference" title="Morlet, T., Rabinowitz, M. R., Looney, L. R., Riegner, T., Greenwood, L. A., Sherman, E. A., Achilly, N., Zhu, A., Yoo, E., O'Reilly, R. C., Jinks, R. N., Puffenberger, E. G., Heaps, A., Morton, H., Strauss, K. A. <strong>A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.</strong> Laryngoscope 124: 95-103, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23946138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23946138</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23946138[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/10.1002/lary.24361" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23946138">Morlet et al. (2014)</a> suggested that inner hair cell function is relatively preserved in these patients. The authors concluded that homozygosity for the SLITRK6 Q414X mutation is associated with high myopia, cochlear dysfunction attributable to outer hair cell disease, and progressive auditory neuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23946138+23543054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a consanguineous Old Order Amish family in Ohio segregating autosomal recessive high myopia and deafness, <a href="#5" class="mim-tip-reference" title="Tekin, M., Chioza, B. A., Matsumoto, Y., Diaz-Horta, O., Cross, H. E., Duman, D., Kokotas, H., Moore-Barton, H. L., Sakoori, K., Ota, M., Odaka, Y. S., Foster, J., II, and 13 others. <strong>SLITRK6 mutations cause myopia and deafness in humans and mice.</strong> J. Clin. Invest. 123: 2094-2102, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23543054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23543054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23543054[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/10.1172/JCI65853" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23543054">Tekin et al. (2013)</a> performed genomewide SNP analysis and identified a single 12.2-Mb homozygous region shared among all affected individuals on chromosome 13q31.1-q31.3, delimited by the recombinant SNP markers <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1333404;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1333404</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs9584101;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs9584101</a>. Autozygosity across the interval was corroborated by microsatellite marker analysis in all family members, which defined a haplotype that cosegregated with the disease phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23543054" 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>Using DNA samples from 3 affected sibs from an Old Order Amish community in Pennsylvania, <a href="#3" class="mim-tip-reference" title="Morlet, T., Rabinowitz, M. R., Looney, L. R., Riegner, T., Greenwood, L. A., Sherman, E. A., Achilly, N., Zhu, A., Yoo, E., O'Reilly, R. C., Jinks, R. N., Puffenberger, E. G., Heaps, A., Morton, H., Strauss, K. A. <strong>A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.</strong> Laryngoscope 124: 95-103, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23946138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23946138</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23946138[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/10.1002/lary.24361" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23946138">Morlet et al. (2014)</a> mapped a locus for deafness and myopia to chromosome 13q31 between SNP markers <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs722023;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs722023</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs958373;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs958373</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23946138" 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 class="mim-changed mim-change"><p>The transmission pattern of DFNMYP in the families reported by <a href="#5" class="mim-tip-reference" title="Tekin, M., Chioza, B. A., Matsumoto, Y., Diaz-Horta, O., Cross, H. E., Duman, D., Kokotas, H., Moore-Barton, H. L., Sakoori, K., Ota, M., Odaka, Y. S., Foster, J., II, and 13 others. <strong>SLITRK6 mutations cause myopia and deafness in humans and mice.</strong> J. Clin. Invest. 123: 2094-2102, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23543054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23543054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23543054[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/10.1172/JCI65853" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23543054">Tekin et al. (2013)</a> and <a href="#3" class="mim-tip-reference" title="Morlet, T., Rabinowitz, M. R., Looney, L. R., Riegner, T., Greenwood, L. A., Sherman, E. A., Achilly, N., Zhu, A., Yoo, E., O'Reilly, R. C., Jinks, R. N., Puffenberger, E. G., Heaps, A., Morton, H., Strauss, K. A. <strong>A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.</strong> Laryngoscope 124: 95-103, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23946138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23946138</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23946138[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/10.1002/lary.24361" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23946138">Morlet et al. (2014)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23946138+23543054" 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></div>
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<p>In a consanguineous Old Order Amish family in Ohio with deafness and myopia mapping to chromosome 13q31, <a href="#5" class="mim-tip-reference" title="Tekin, M., Chioza, B. A., Matsumoto, Y., Diaz-Horta, O., Cross, H. E., Duman, D., Kokotas, H., Moore-Barton, H. L., Sakoori, K., Ota, M., Odaka, Y. S., Foster, J., II, and 13 others. <strong>SLITRK6 mutations cause myopia and deafness in humans and mice.</strong> J. Clin. Invest. 123: 2094-2102, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23543054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23543054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23543054[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/10.1172/JCI65853" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23543054">Tekin et al. (2013)</a> analyzed candidate genes as well as microRNAs and other potentially functional molecules within the disease interval, and identified a nonsense mutation in the SLITRK6 gene (Q414X; <a href="/entry/609681#0001">609681.0001</a>) that segregated with disease in the family. The mutation was not found in the dbSNP (build 135) or 1000 Genomes Project databases or in 450 controls of European ancestry; only a single heterozygous carrier was detected in 80 Amish controls. In parallel, whole-exome sequencing was performed in 2 affected individuals from a consanguineous Turkish family with deafness and myopia, which revealed homozygosity for a different nonsense mutation in SLITRK6 (S297X; <a href="/entry/609681#0002">609681.0002</a>) that cosegregated with disease in the family and was not found in 330 Turkish controls. Analysis of the SLITRK6 gene in 177 multiplex families with nonsyndromic autosomal recessive deafness, in some of which myopia was also present, identified a Greek family with 2 affected brothers who were homozygous for a third nonsense mutation (R181X; <a href="/entry/609681#0003">609681.0003</a>); the parents were heterozygous for the mutation, which was not found in 300 Greek controls. Screening for the R181X and S297X mutations in 370 probands from the United States with nonsyndromic sensorineural hearing loss identified no sequence variants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23543054" 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 individuals from an Old Order Amish community in Pennsylvania with deafness and myopia mapping to chromosome 13q31, <a href="#3" class="mim-tip-reference" title="Morlet, T., Rabinowitz, M. R., Looney, L. R., Riegner, T., Greenwood, L. A., Sherman, E. A., Achilly, N., Zhu, A., Yoo, E., O'Reilly, R. C., Jinks, R. N., Puffenberger, E. G., Heaps, A., Morton, H., Strauss, K. A. <strong>A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.</strong> Laryngoscope 124: 95-103, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23946138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23946138</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23946138[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/10.1002/lary.24361" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23946138">Morlet et al. (2014)</a> performed Sanger sequencing of the candidate gene SLITRK6 and identified homozygosity for the Q414X mutation. Genotyping of 571 Old Order Amish control samples by high-resolution melt analysis revealed 27 carriers of the mutation (4.7% carrier frequency). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23946138" 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>Using high-resolution small-animal MRI scanning, <a href="#5" class="mim-tip-reference" title="Tekin, M., Chioza, B. A., Matsumoto, Y., Diaz-Horta, O., Cross, H. E., Duman, D., Kokotas, H., Moore-Barton, H. L., Sakoori, K., Ota, M., Odaka, Y. S., Foster, J., II, and 13 others. <strong>SLITRK6 mutations cause myopia and deafness in humans and mice.</strong> J. Clin. Invest. 123: 2094-2102, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23543054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23543054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23543054[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/10.1172/JCI65853" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23543054">Tekin et al. (2013)</a> studied 10- to 12-month-old Slitrk6 -/- mice and observed a significant increase in axial length, but not lens thickness, in mutant mice compared to controls. The size difference in axial length was not apparent in newborn mice, indicating that SLITRK6 regulates eye growth after birth. <a href="#5" class="mim-tip-reference" title="Tekin, M., Chioza, B. A., Matsumoto, Y., Diaz-Horta, O., Cross, H. E., Duman, D., Kokotas, H., Moore-Barton, H. L., Sakoori, K., Ota, M., Odaka, Y. S., Foster, J., II, and 13 others. <strong>SLITRK6 mutations cause myopia and deafness in humans and mice.</strong> J. Clin. Invest. 123: 2094-2102, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23543054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23543054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23543054[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/10.1172/JCI65853" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23543054">Tekin et al. (2013)</a> concluded that Slitrk6 knockout mice appeared to closely mimic the human myopia phenotype, in association with previously documented deafness in Slitrk6-null mice (<a href="#2" class="mim-tip-reference" title="Matsumoto, Y., Katayama, K., Okamoto, T., Yamada, K., Takashima, N., Nagao, S., Aruga, J. <strong>Impaired auditory-vestibular functions and behavioral abnormalities of Slitrk6-deficient mice.</strong> PLoS One 6: e16497, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21298075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21298075</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21298075[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/10.1371/journal.pone.0016497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21298075">Matsumoto et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21298075+23543054" 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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Eldridge, R., Berlin, C. I., Money, J. W., McKusick, V. A.
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<strong>Cochlear deafness, myopia, and intellectual impairment in an Amish family: a new syndrome of hereditary deafness.</strong>
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Arch. Otolaryng. 88: 49-54, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5660029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5660029</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5660029" 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/10.1001/archotol.1968.00770010051010" target="_blank">Full Text</a>]
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Matsumoto, Y., Katayama, K., Okamoto, T., Yamada, K., Takashima, N., Nagao, S., Aruga, J.
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<strong>Impaired auditory-vestibular functions and behavioral abnormalities of Slitrk6-deficient mice.</strong>
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PLoS One 6: e16497, 2011. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21298075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21298075</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21298075[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=21298075" 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/10.1371/journal.pone.0016497" target="_blank">Full Text</a>]
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Morlet, T., Rabinowitz, M. R., Looney, L. R., Riegner, T., Greenwood, L. A., Sherman, E. A., Achilly, N., Zhu, A., Yoo, E., O'Reilly, R. C., Jinks, R. N., Puffenberger, E. G., Heaps, A., Morton, H., Strauss, K. A.
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<strong>A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.</strong>
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Laryngoscope 124: 95-103, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23946138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23946138</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23946138[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=23946138" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/lary.24361" target="_blank">Full Text</a>]
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<a id="Ohlsson1963" class="mim-anchor"></a>
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<div class="">
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Ohlsson, L.
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<strong>Congenital renal disease, deafness and myopia in one family.</strong>
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Acta Med. Scand. 174: 77-84, 1963.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14042467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14042467</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14042467" 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.0954-6820.1963.tb07893.x" target="_blank">Full Text</a>]
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<a id="Tekin2013" class="mim-anchor"></a>
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Tekin, M., Chioza, B. A., Matsumoto, Y., Diaz-Horta, O., Cross, H. E., Duman, D., Kokotas, H., Moore-Barton, H. L., Sakoori, K., Ota, M., Odaka, Y. S., Foster, J., II, and 13 others.
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<strong>SLITRK6 mutations cause myopia and deafness in humans and mice.</strong>
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J. Clin. Invest. 123: 2094-2102, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23543054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23543054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23543054[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=23543054" 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/10.1172/JCI65853" target="_blank">Full Text</a>]
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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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Marla J. F. O'Neill - updated : 1/8/2015
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Victor A. McKusick : 6/3/1986
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carol : 12/12/2024
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carol : 04/23/2024<br>carol : 04/05/2017<br>carol : 01/09/2015<br>carol : 1/8/2015<br>mcolton : 1/8/2015<br>carol : 11/22/2013<br>mcolton : 11/20/2013<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>reenie : 10/18/1986
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<strong>#</strong> 221200
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DEAFNESS AND MYOPIA; DFNMYP
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<strong>ORPHA:</strong> 363396;
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<strong>DO:</strong> 0111628;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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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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13q31.1
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Deafness and myopia
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221200
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Autosomal recessive
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3
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SLITRK6
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<span class="mim-font">
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609681
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that deafness and myopia (DFNMYP) is caused by homozygous mutation in the SLITRK6 gene (609681) on chromosome 13q31.</p>
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<strong>Clinical Features</strong>
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<p>In a survey of mental retardation in an inbred Amish community, Eldridge et al. (1968) observed 4 of 7 sibs in a family (2 males, 2 females) who also had deafness and myopia. The extent of intellectual impairment was difficult to evaluate. Sensory deprivation might have been a main factor. </p><p>Ohlsson (1963) described deafness and severe myopia in 3 boys in a sibship of 7. One was stated to be of somewhat low intelligence. All 3 plus 3 other sibs and the mother had albuminuria or hematuria. Ohlsson (1963) concluded that the family did not have Alport syndrome (104200). </p><p>Tekin et al. (2013) studied 2 families with deafness and high myopia and mutation in the SLITRK6 gene. One was a consanguineous Old Order Amish family in which 3 sibs had congenital high myopia, with refraction error ranging from -7.25 to -10.25 diopters corrected by glasses, and prelingual-onset moderate to severe bilateral sensorineural hearing loss necessitating hearing aids. Their parents had low myopia with onset in their youth, and normal hearing. The second family was a consanguineous Turkish family in which 4 sibs had high myopia, with refraction error ranging from -6.0 to -11.0 diopters, and prelingual-onset moderate to profound sensorineural hearing loss. Their parents and 2 unaffected sibs did not have hearing loss; the father and 2 unaffected sibs had mild adult-onset myopia of less than -2 diopters. Affected individuals in both families did not exhibit delays in gross motor development, and none had balance problems, vertigo, dizziness, or spontaneous or positional nystagmus. CT scan of the temporal bone was normal in 1 affected individual from each family. Clinical examination confirmed the absence of additional findings, with normal facial appearance and normal neurologic, connective tissue, and ocular manifestations. None of the affected individuals had retinitis pigmentosa. </p><p>Morlet et al. (2014) provided a longitudinal description of the auditory phenotype in 9 patients from an Old Order Amish community with deafness and myopia and the same mutation in the SLITRK6 gene (Q414X; 609681.0001) that had been identified in Old Order Amish by Tekin et al. (2013). The patients ranged in age from 4 months to 36 years. The 4 oldest patients, who were in the second to fourth decade of life, had absent ipsilateral middle ear muscle reflexes. Distortion product otoacoustic emissions (OAEs) were absent in all ears tested; the cochlear microphonic (CM) was increased in amplitude and duration in young patients but absent in the 2 oldest subjects. Auditory brainstem responses were dyssynchronized bilaterally with no reproducible waves I, III, or V at high intensities. Hearing loss and speech reception thresholds deteriorated symmetrically with age, which resulted in severe to profound hearing impairment by early adulthood. Vestibular evoked myogenic potentials were normal in 3 ears and absent in 1. Noting the absence of OAEs with large CMs and wave I recordings at high intensities, Morlet et al. (2014) suggested that inner hair cell function is relatively preserved in these patients. The authors concluded that homozygosity for the SLITRK6 Q414X mutation is associated with high myopia, cochlear dysfunction attributable to outer hair cell disease, and progressive auditory neuropathy. </p>
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<strong>Mapping</strong>
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<p>In a consanguineous Old Order Amish family in Ohio segregating autosomal recessive high myopia and deafness, Tekin et al. (2013) performed genomewide SNP analysis and identified a single 12.2-Mb homozygous region shared among all affected individuals on chromosome 13q31.1-q31.3, delimited by the recombinant SNP markers rs1333404 and rs9584101. Autozygosity across the interval was corroborated by microsatellite marker analysis in all family members, which defined a haplotype that cosegregated with the disease phenotype. </p><p>Using DNA samples from 3 affected sibs from an Old Order Amish community in Pennsylvania, Morlet et al. (2014) mapped a locus for deafness and myopia to chromosome 13q31 between SNP markers rs722023 and rs958373. </p>
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>The transmission pattern of DFNMYP in the families reported by Tekin et al. (2013) and Morlet et al. (2014) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In a consanguineous Old Order Amish family in Ohio with deafness and myopia mapping to chromosome 13q31, Tekin et al. (2013) analyzed candidate genes as well as microRNAs and other potentially functional molecules within the disease interval, and identified a nonsense mutation in the SLITRK6 gene (Q414X; 609681.0001) that segregated with disease in the family. The mutation was not found in the dbSNP (build 135) or 1000 Genomes Project databases or in 450 controls of European ancestry; only a single heterozygous carrier was detected in 80 Amish controls. In parallel, whole-exome sequencing was performed in 2 affected individuals from a consanguineous Turkish family with deafness and myopia, which revealed homozygosity for a different nonsense mutation in SLITRK6 (S297X; 609681.0002) that cosegregated with disease in the family and was not found in 330 Turkish controls. Analysis of the SLITRK6 gene in 177 multiplex families with nonsyndromic autosomal recessive deafness, in some of which myopia was also present, identified a Greek family with 2 affected brothers who were homozygous for a third nonsense mutation (R181X; 609681.0003); the parents were heterozygous for the mutation, which was not found in 300 Greek controls. Screening for the R181X and S297X mutations in 370 probands from the United States with nonsyndromic sensorineural hearing loss identified no sequence variants. </p><p>In affected individuals from an Old Order Amish community in Pennsylvania with deafness and myopia mapping to chromosome 13q31, Morlet et al. (2014) performed Sanger sequencing of the candidate gene SLITRK6 and identified homozygosity for the Q414X mutation. Genotyping of 571 Old Order Amish control samples by high-resolution melt analysis revealed 27 carriers of the mutation (4.7% carrier frequency). </p>
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<p>Using high-resolution small-animal MRI scanning, Tekin et al. (2013) studied 10- to 12-month-old Slitrk6 -/- mice and observed a significant increase in axial length, but not lens thickness, in mutant mice compared to controls. The size difference in axial length was not apparent in newborn mice, indicating that SLITRK6 regulates eye growth after birth. Tekin et al. (2013) concluded that Slitrk6 knockout mice appeared to closely mimic the human myopia phenotype, in association with previously documented deafness in Slitrk6-null mice (Matsumoto et al., 2011). </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
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Eldridge, R., Berlin, C. I., Money, J. W., McKusick, V. A.
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<strong>Cochlear deafness, myopia, and intellectual impairment in an Amish family: a new syndrome of hereditary deafness.</strong>
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Arch. Otolaryng. 88: 49-54, 1968.
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[PubMed: 5660029]
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[Full Text: https://doi.org/10.1001/archotol.1968.00770010051010]
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Matsumoto, Y., Katayama, K., Okamoto, T., Yamada, K., Takashima, N., Nagao, S., Aruga, J.
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<strong>Impaired auditory-vestibular functions and behavioral abnormalities of Slitrk6-deficient mice.</strong>
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PLoS One 6: e16497, 2011. Note: Electronic Article.
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[PubMed: 21298075]
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[Full Text: https://doi.org/10.1371/journal.pone.0016497]
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Morlet, T., Rabinowitz, M. R., Looney, L. R., Riegner, T., Greenwood, L. A., Sherman, E. A., Achilly, N., Zhu, A., Yoo, E., O'Reilly, R. C., Jinks, R. N., Puffenberger, E. G., Heaps, A., Morton, H., Strauss, K. A.
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<strong>A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.</strong>
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Laryngoscope 124: 95-103, 2014.
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[PubMed: 23946138]
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[Full Text: https://doi.org/10.1002/lary.24361]
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<p class="mim-text-font">
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Ohlsson, L.
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<strong>Congenital renal disease, deafness and myopia in one family.</strong>
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Acta Med. Scand. 174: 77-84, 1963.
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[PubMed: 14042467]
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[Full Text: https://doi.org/10.1111/j.0954-6820.1963.tb07893.x]
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<p class="mim-text-font">
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Tekin, M., Chioza, B. A., Matsumoto, Y., Diaz-Horta, O., Cross, H. E., Duman, D., Kokotas, H., Moore-Barton, H. L., Sakoori, K., Ota, M., Odaka, Y. S., Foster, J., II, and 13 others.
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<strong>SLITRK6 mutations cause myopia and deafness in humans and mice.</strong>
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J. Clin. Invest. 123: 2094-2102, 2013.
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[PubMed: 23543054]
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[Full Text: https://doi.org/10.1172/JCI65853]
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