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Entry
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- #276904 - USHER SYNDROME, TYPE IC; USH1C
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- OMIM
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<p>
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<span class="h4">#276904</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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<li role="presentation">
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<a href="/clinicalSynopsis/276904"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS276900"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</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 class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div 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=USHER SYNDROME, TYPE IC" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19167&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Usher syndrome type 1 </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=662&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Usher syndrome </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1265/" 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/7319" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=276904[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231169" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Usher syndrome type 1</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Usher syndrome</a></div>
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</div>
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</div>
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110830" 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/276904" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:276904" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 231169, 886<br />
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<strong>DO:</strong> 0110830<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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276904
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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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USHER SYNDROME, TYPE IC; USH1C
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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USHER SYNDROME, TYPE I, ACADIAN VARIETY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<div>
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<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/11/210?start=-3&limit=10&highlight=210">
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11p15.1
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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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Usher syndrome, type 1C
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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/276904"> 276904 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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USH1C
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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/605242"> 605242 </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>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/276904" 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>
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</div>
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<div class="btn-group">
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|
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<a href="/phenotypicSeries/PS276900" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
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<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
|
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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/276904" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/276904" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
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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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<div>
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
|
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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>
|
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<div style="margin-left: 2em;">
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|
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<div>
|
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<span class="mim-font">
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|
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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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</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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<div>
|
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<span class="h5 mim-font">
|
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<strong> HEAD & NECK </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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<div>
|
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<span class="h5 mim-font">
|
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<em> Ears </em>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sensorineural hearing loss, profound congenital <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848605</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 /> -
|
|
Vestibular hypofunction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848606&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848606</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001756" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001756</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001756" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001756</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Retinitis pigmentosa, progressive (prepubertal onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848607&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848607</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28835009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28835009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.52</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000510</a>]</span><br /> -
|
|
Retinitis pigmentosa, sector type (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550740&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550740</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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</div>
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</div>
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- First described in Acadian population of Louisiana<br /> -
|
|
Allelic to deafness, neurosensory, autosomal recessive 18 (<a href="/entry/602092">602092</a>)<br /> -
|
|
Later onset of hearing loss in some patients<br />
|
|
|
|
</span>
|
|
</div>
|
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|
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</div>
|
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the USH1 protein network component harmonin gene (USH1C, <a href="/entry/605242#0001">605242.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
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</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
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|
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|
|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Usher syndrome
|
|
- <a href="/phenotypicSeries/PS276900">PS276900</a>
|
|
- 20 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1707?start=-3&limit=10&highlight=1707"> 1q41 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276901"> Usher syndrome, type 2A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276901"> 276901 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608400"> USH2A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608400"> 608400 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/783?start=-3&limit=10&highlight=783"> 3q25.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276902"> Usher syndrome, type 3A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276902"> 276902 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606397"> CLRN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606397"> 606397 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/322?start=-3&limit=10&highlight=322"> 5q14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> Usher syndrome, type 2C, GPR98/PDZD7 digenic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> 605472 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602851"> ADGRV1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602851"> 602851 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/322?start=-3&limit=10&highlight=322"> 5q14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> Usher syndrome, type 2C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> 605472 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602851"> ADGRV1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602851"> 602851 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/544?start=-3&limit=10&highlight=544"> 5q31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614504"> Usher syndrome type 3B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614504"> 614504 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142810"> HARS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142810"> 142810 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/443?start=-3&limit=10&highlight=443"> 9q32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611383"> Usher syndrome, type 2D </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611383"> 611383 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607928"> WHRN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607928"> 607928 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/144?start=-3&limit=10&highlight=144"> 10p11.21-q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614990"> Usher syndrome, type IK </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614990"> 614990 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614990"> USH1K </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614990"> 614990 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/209?start=-3&limit=10&highlight=209"> 10q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602083"> Usher syndrome, type 1F </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602083"> 602083 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605514"> PCDH15 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605514"> 605514 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/209?start=-3&limit=10&highlight=209"> 10q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601067"> Usher syndrome, type 1D/F digenic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic recessive">DR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601067"> 601067 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605514"> PCDH15 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605514"> 605514 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/281?start=-3&limit=10&highlight=281"> 10q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601067"> Usher syndrome, type 1D/F digenic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic recessive">DR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601067"> 601067 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605516"> CDH23 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605516"> 605516 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/281?start=-3&limit=10&highlight=281"> 10q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601067"> Usher syndrome, type 1D </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic recessive">DR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601067"> 601067 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605516"> CDH23 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605516"> 605516 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/491?start=-3&limit=10&highlight=491"> 10q24.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276901"> {Retinal disease in Usher syndrome type IIA, modifier of} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276901"> 276901 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612971"> PDZD7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612971"> 612971 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/491?start=-3&limit=10&highlight=491"> 10q24.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> Usher syndrome, type IIC, GPR98/PDZD7 digenic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> 605472 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612971"> PDZD7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612971"> 612971 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/210?start=-3&limit=10&highlight=210"> 11p15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276904"> Usher syndrome, type 1C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276904"> 276904 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605242"> USH1C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605242"> 605242 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/775?start=-3&limit=10&highlight=775"> 11q13.5 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276900"> Usher syndrome, type 1B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276900"> 276900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276903"> MYO7A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276903"> 276903 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/252?start=-3&limit=10&highlight=252"> 15q22-q23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612632"> Usher syndrome, type 1H </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612632"> 612632 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612632"> USH1H </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612632"> 612632 </a>
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<p>A number sign (#) is used with this entry because Usher syndrome type IC is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin (<a href="/entry/605242">605242</a>) on chromosome 11p15.</p>
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<p>Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (<a href="/entry/276901">276901</a>) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (<a href="#9" class="mim-tip-reference" title="Moller, C. G., Kimberling, W. J., Davenport, S. L. H., Priluck, I., White, V., Biscone-Halterman, K., Odkvist, L. M., Brookhouser, P. E., Lund, G., Grissom, T. J. <strong>Usher syndrome: an otoneurologic study.</strong> Laryngoscope 99: 73-79, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909824</a>] [<a href="https://doi.org/10.1288/00005537-198901000-00014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2909824">Moller et al., 1989</a>). Patients with type III (USH3; <a href="/entry/276902">276902</a>) have progressive hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2909824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 (<a href="/entry/276900">276900</a>).</p>
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<p><a href="#7" class="mim-tip-reference" title="Kloepfer, H. W., Laguaite, J. K., McLaurin, J. W. <strong>The hereditary syndrome of congenital deafness and retinitis pigmentosa: (Usher's syndrome).</strong> Laryngoscope 76: 850-862, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5937908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5937908</a>] [<a href="https://doi.org/10.1288/00005537-196605000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5937908">Kloepfer et al. (1966)</a> identified 537 persons with hearing loss in a French-Acadian ('Cajun') group in Louisiana. Of the 468 living persons with hearing loss, at least 158 or about 30% were known to have retinitis pigmentosa and cataract. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5937908" 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>Usher syndrome in French-Acadians is predominantly type I, although some type II cases have been identified (<a href="#15" class="mim-tip-reference" title="Smith, R. J. H., Pelias, M. Z., Daiger, S. P., Keats, B., Kimberling, W., Hejtmancik, J. F. <strong>Clinical variability and genetic heterogeneity within the Acadian Usher population.</strong> Am. J. Med. Genet. 43: 964-969, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415347</a>] [<a href="https://doi.org/10.1002/ajmg.1320430612" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1415347">Smith et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1415347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Saihan, Z., Stabej, P. L. Q., Robson, A. G., Rangesh, N., Holder, G. E., Moore, A. T., Steel, K. P., Luxon, L. M., Bitner-Glindzicz, M., Webster, A. R. <strong>Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss.</strong> Retina 31: 1708-1716, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21487335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21487335</a>] [<a href="https://doi.org/10.1097/IAE.0b013e31820d3fd1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21487335">Saihan et al. (2011)</a> studied a 42-year-old woman and her 40-year-old brother from a Caucasian British family who at 4 years of age were diagnosed with severe hearing loss requiring hearing aids, and who also developed visual field loss and night blindness in the third and fourth decades of life, respectively. Language acquisition and speech development were normal, and there was no history of delay in motor milestones, consistent with normal vestibular function in infancy. Ophthalmic examination revealed that both sibs had sector retinitis pigmentosa restricted to the inferior and nasal retina, and fundus autofluorescence imaging showed a clear demarcation between normal and abnormal areas of retina, which corresponded to areas of reduced sensitivity on fine matrix mapping and loss of visual field. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21487335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the Acadian families of Louisiana, <a href="#14" class="mim-tip-reference" title="Smith, R. J. H., Lee, E. C., Kimberling, W. J., Daiger, S. P., Pelias, M. Z., Keats, B. J. B., Jay, M., Bird, A., Reardon, W., Guest, M., Ayyagari, R., Hejtmancik, J. F. <strong>Localization of two genes for Usher syndrome type I to chromosome 11.</strong> Genomics 14: 995-1002, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1478678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1478678</a>] [<a href="https://doi.org/10.1016/s0888-7543(05)80122-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1478678">Smith et al. (1992)</a> demonstrated that Usher syndrome was linked to D11S419 (maximum lod = 4.20 at theta = 0.0), which is situated on 11p. A homologous region on mouse chromosome 7 is the site of a recessive deaf mutant 'twister' (twt), a disorder possibly homologous to Usher syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1478678" 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="Keats, B. J. B., Nouri, N., Pelias, M. Z., Deininger, P. L., Litt, M. <strong>Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11.</strong> Am. J. Hum. Genet. 54: 681-686, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8128966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8128966</a>]" pmid="8128966">Keats et al. (1994)</a> mapped the USH1C gene to a region of 11p15.1 by tight linkage to microsatellite markers. In addition, linkage disequilibrium was observed. <a href="#4" class="mim-tip-reference" title="Fantes, J. A., Oghene, K., Boyle, S., Danes, S., Fletcher, J. M., Bruford, E. A., Williamson, K., Seawright, A., Schedl, A., Hanson, I., Zehetner, G., Bhogal, R., Lehrach, H., Gregory, S., Williams, J., Little, P. F. R., Sellar, G. C., Hoovers, J., Mannens, M., Weissenbach, J., Junien, C., van Heyningen, V., Bickmore, W. A. <strong>A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1.</strong> Genomics 25: 447-461, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7789978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7789978</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80045-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7789978">Fantes et al. (1995)</a> constructed an integrated map of this region, including the markers tightly linked to USH1C. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7789978+8128966" 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 patients with Usher syndrome IC, <a href="#16" class="mim-tip-reference" title="Verpy, E., Leibovici, M., Zwaenepoel, I., Liu, X.-Z., Gal, A., Salem, N., Mansour, A., Blanchard, S., Kobayashi, I., Keats, B. J. B., Slim, R., Petit, C. <strong>A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.</strong> Nature Genet. 26: 51-55, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973247</a>] [<a href="https://doi.org/10.1038/79171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973247">Verpy et al. (2000)</a> found a splice site mutation (<a href="/entry/605242#0001">605242.0001</a>), a frameshift mutation (<a href="/entry/605242#0002">605242.0002</a>), and the expansion of an intronic variable number of tandem repeats (VNTRs) (<a href="/entry/605242#0003">605242.0003</a>). <a href="#16" class="mim-tip-reference" title="Verpy, E., Leibovici, M., Zwaenepoel, I., Liu, X.-Z., Gal, A., Salem, N., Mansour, A., Blanchard, S., Kobayashi, I., Keats, B. J. B., Slim, R., Petit, C. <strong>A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.</strong> Nature Genet. 26: 51-55, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973247</a>] [<a href="https://doi.org/10.1038/79171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973247">Verpy et al. (2000)</a> proposed that the USH1C gene also underlies the form of nonsyndromic autosomal recessive neurosensory deafness designated DFNB18 (<a href="/entry/602092">602092</a>), which maps to the same region of 11p. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bitner-Glindzicz, M., Lindley, K. J., Rutland, P., Blaydon, D., Smith, V. V., Milla, P. J., Hussain, K., Furth-Lavi, J., Cosgrove, K. E., Shepherd, R. M., Barnes, P. D., O'Brien, R. E., Farndon, P. A., Sowden, J., Liu, X.-Z., Scanlan, M. J., Malcolm, S., Dunne, M. J., Aynsley-Green, A., Glaser, B. <strong>A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.</strong> Nature Genet. 26: 56-60, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973248</a>] [<a href="https://doi.org/10.1038/79178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973248">Bitner-Glindzicz et al. (2000)</a> identified the USH1C gene and detected 2 different homozygous mutations in exon 3, one in an Acadian family (<a href="/entry/605242#0004">605242.0004</a>) and the other in a Pakistani family (<a href="/entry/605242#0002">605242.0002</a>) with Usher syndrome type IC. Additionally, they identified a contiguous gene deletion syndrome (<a href="/entry/606528">606528</a>) that included part of the ABCC8 (<a href="/entry/600509">600509</a>) and USH1C genes in 2 consanguineous families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973248" 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 an extensive genetic study of 9 Usher syndrome genes in 172 patients with Usher syndrome due to various genetic defects, <a href="#8" class="mim-tip-reference" title="Le Quesne Stabej, P., Saihan, Z., Rangesh, N., Steele-Stallard, H. B., Ambrose, J., Coffey, A., Emmerson, J., Haralambous, E., Hughes, Y., Steel, K. P., Luxon, L. M., Webster, A. R., Bitner-Glindzicz, M. <strong>Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.</strong> J. Med. Genet. 49: 27-36, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22135276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22135276</a>] [<a href="https://doi.org/10.1136/jmedgenet-2011-100468" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22135276">Le Quesne Stabej et al. (2012)</a> found that mutations in the USH1C gene were the second most common defect, accounting for 14.9% of families. Four families carried a splice site mutation (495+1G-A; <a href="/entry/605242#0006">605242.0006</a>), and haplotype analysis indicated a founder effect. Mutations in the MYO7A gene (<a href="/entry/276903">276903</a>) were the most common in the cohort, accounting for 53.2% of families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22135276" 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 2 sibs from a Caucasian British family who were diagnosed with hearing loss at 4 years of age and who developed retinitis pigmentosa of the 'sector' type in the third and fourth decades of life, respectively, <a href="#11" class="mim-tip-reference" title="Saihan, Z., Stabej, P. L. Q., Robson, A. G., Rangesh, N., Holder, G. E., Moore, A. T., Steel, K. P., Luxon, L. M., Bitner-Glindzicz, M., Webster, A. R. <strong>Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss.</strong> Retina 31: 1708-1716, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21487335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21487335</a>] [<a href="https://doi.org/10.1097/IAE.0b013e31820d3fd1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21487335">Saihan et al. (2011)</a> identified compound heterozygosity for a missense mutation (R103H; <a href="/entry/605242#0011">605242.0011</a>) and a splice site mutation (<a href="/entry/605242#0012">605242.0012</a>) in the USH1C gene. Both sibs were negative for pathogenic changes in 7 other Usher-associated genes. Their unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in 866 control chromosomes. <a href="#11" class="mim-tip-reference" title="Saihan, Z., Stabej, P. L. Q., Robson, A. G., Rangesh, N., Holder, G. E., Moore, A. T., Steel, K. P., Luxon, L. M., Bitner-Glindzicz, M., Webster, A. R. <strong>Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss.</strong> Retina 31: 1708-1716, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21487335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21487335</a>] [<a href="https://doi.org/10.1097/IAE.0b013e31820d3fd1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21487335">Saihan et al. (2011)</a> noted that both the retinal and the audiovestibular phenotypes in the sibs were much milder than those previously reported in cases of USH1C-related nonsyndromic hearing loss or Usher syndrome type I. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21487335" 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 a combination of whole-genome SNP analysis as well as whole-exome sequencing in 2 Israeli families of Yemenite Jewish descent with retinitis pigmentosa, <a href="#6" class="mim-tip-reference" title="Khateb, S., Zelinger, L., Ben-Yosef, T., Merin, S., Crystal-Shalit, O., Gross, M., Banin, E., Sharon, D. <strong>Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.</strong> PLoS One 7: e51566, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23251578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23251578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23251578[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.0051566" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23251578">Khateb et al. (2012)</a> identified a homozygous 1-bp deletion in the USH1C gene (1220delG; <a href="/entry/605242#0013">605242.0013</a>) that was confirmed by Sanger sequencing and cosegregated fully with the phenotype in both families. The mutation was part of a shared homozygous haplotype of 27 SNPs shared by the probands from the 2 families, indicating a founder mutation; screening for the 1220delG mutation in 119 ethnically matched controls revealed 1 heterozygous individual, for a carrier frequency of 0.008 in the Israeli Yemenite Jewish population. Screening 35 unrelated Yemenite Jewish patients with retinal degeneration identified 6 additional RP patients who were homozygous for the 1220delG mutation. Audiometric testing in 10 of the mutation-positive individuals revealed that 4 had mild to severe symmetric hearing impairment; the ages of the patients with deafness ranged from 38 to 72 years, whereas those of the patients with normal hearing ranged from 13 to 40 years. <a href="#6" class="mim-tip-reference" title="Khateb, S., Zelinger, L., Ben-Yosef, T., Merin, S., Crystal-Shalit, O., Gross, M., Banin, E., Sharon, D. <strong>Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.</strong> PLoS One 7: e51566, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23251578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23251578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23251578[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.0051566" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23251578">Khateb et al. (2012)</a> stated that this was the first report of a mutation in a known USH1 gene causing late-onset rather than congenital sensorineural hearing loss, and noted that the mutation accounted for 23% of RP among Yemenite Jewish patients in their cohort. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23251578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the French-Acadian ('Cajun') population of southwestern Louisiana where Usher syndrome is frequent (<a href="#7" class="mim-tip-reference" title="Kloepfer, H. W., Laguaite, J. K., McLaurin, J. W. <strong>The hereditary syndrome of congenital deafness and retinitis pigmentosa: (Usher's syndrome).</strong> Laryngoscope 76: 850-862, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5937908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5937908</a>] [<a href="https://doi.org/10.1288/00005537-196605000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5937908">Kloepfer et al., 1966</a>), <a href="#3" class="mim-tip-reference" title="Daiger, S. P., Bertin, T. K., Smith, R. J. H., Pelias, M. Z. <strong>Tentative linkage of Usher's syndrome to Gc on human chromosome 4. (Abstract)</strong> Cytogenet. Cell Genet. 46: 602 only, 1987."None>Daiger et al. (1987)</a> and <a href="#10" class="mim-tip-reference" title="Pelias, M. Z., Lemoine, D. R., Kossar, A. L., Ward, L. J., Wilson, A. F., Elston, R. C. <strong>Linkage studies of Usher syndrome: analysis of an Acadian kindred in Louisiana.</strong> Cytogenet. Cell Genet. 47: 111-112, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3162715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3162715</a>] [<a href="https://doi.org/10.1159/000132524" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3162715">Pelias et al. (1988)</a> found a suggestion of linkage to GC (<a href="/entry/139200">139200</a>) on 4q (maximum lod score = 1.41 at theta = 0.17). In the same large Louisiana kindred, Smith et al. (<a href="#13" class="mim-tip-reference" title="Smith, R. J. H., Holcomb, J. D., Caskey, C. T., Pelias, M. Z., Daiger, S. P., Heitmancik, J. F. <strong>Multipoint linkage analysis of Usher syndrome: exclusion of chromosome 4. (Abstract)</strong> Am. J. Hum. Genet. 43: A159 only, 1988."None>1988</a>, <a href="#12" class="mim-tip-reference" title="Smith, R. J. H., Daiger, S. P., Pelias, M. Z., Giesenschlag, N., Hejtmancik, J. F. <strong>Multipoint linkage analysis of Usher syndrome: exclusion of chromosome 4. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1082 only, 1989."None>1989</a>) excluded the Usher syndrome locus from a large part of chromosome 4 by multipoint linkage analysis. Notably, a 17-cM region around the GC locus was excluded by reason of a lod score less than -2.0. <a href="#2" class="mim-tip-reference" title="Bonneau, D., Kaplan, J., Berthier, M., Seger, J., Dufier, J. L., Frezal, J. <strong>Evidence against linkage of the gene for Usher's syndrome type 1 with group specific component (GC) on chromosome 4.</strong> Ann. Genet. 33: 103-104, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2241083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2241083</a>]" pmid="2241083">Bonneau et al. (1990)</a> also excluded linkage to GC. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3162715+2241083+5937908" 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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Bitner-Glindzicz, M., Lindley, K. J., Rutland, P., Blaydon, D., Smith, V. V., Milla, P. J., Hussain, K., Furth-Lavi, J., Cosgrove, K. E., Shepherd, R. M., Barnes, P. D., O'Brien, R. E., Farndon, P. A., Sowden, J., Liu, X.-Z., Scanlan, M. J., Malcolm, S., Dunne, M. J., Aynsley-Green, A., Glaser, B.
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<strong>A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.</strong>
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Nature Genet. 26: 56-60, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973248</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973248" 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/10.1038/79178" target="_blank">Full Text</a>]
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Bonneau, D., Kaplan, J., Berthier, M., Seger, J., Dufier, J. L., Frezal, J.
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<strong>Evidence against linkage of the gene for Usher's syndrome type 1 with group specific component (GC) on chromosome 4.</strong>
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Ann. Genet. 33: 103-104, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2241083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2241083</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2241083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Daiger, S. P., Bertin, T. K., Smith, R. J. H., Pelias, M. Z.
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<strong>Tentative linkage of Usher's syndrome to Gc on human chromosome 4. (Abstract)</strong>
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Cytogenet. Cell Genet. 46: 602 only, 1987.
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Fantes, J. A., Oghene, K., Boyle, S., Danes, S., Fletcher, J. M., Bruford, E. A., Williamson, K., Seawright, A., Schedl, A., Hanson, I., Zehetner, G., Bhogal, R., Lehrach, H., Gregory, S., Williams, J., Little, P. F. R., Sellar, G. C., Hoovers, J., Mannens, M., Weissenbach, J., Junien, C., van Heyningen, V., Bickmore, W. A.
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<strong>A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1.</strong>
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Genomics 25: 447-461, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7789978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7789978</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7789978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(95)80045-n" target="_blank">Full Text</a>]
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Keats, B. J. B., Nouri, N., Pelias, M. Z., Deininger, P. L., Litt, M.
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<strong>Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11.</strong>
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Am. J. Hum. Genet. 54: 681-686, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8128966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8128966</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8128966" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Khateb2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Khateb, S., Zelinger, L., Ben-Yosef, T., Merin, S., Crystal-Shalit, O., Gross, M., Banin, E., Sharon, D.
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<strong>Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.</strong>
|
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PLoS One 7: e51566, 2012. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23251578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23251578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23251578[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=23251578" 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.0051566" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Kloepfer1966" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kloepfer, H. W., Laguaite, J. K., McLaurin, J. W.
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<strong>The hereditary syndrome of congenital deafness and retinitis pigmentosa: (Usher's syndrome).</strong>
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Laryngoscope 76: 850-862, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5937908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5937908</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5937908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1288/00005537-196605000-00004" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Le Quesne Stabej2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Le Quesne Stabej, P., Saihan, Z., Rangesh, N., Steele-Stallard, H. B., Ambrose, J., Coffey, A., Emmerson, J., Haralambous, E., Hughes, Y., Steel, K. P., Luxon, L. M., Webster, A. R., Bitner-Glindzicz, M.
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<strong>Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.</strong>
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J. Med. Genet. 49: 27-36, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22135276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22135276</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22135276" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2011-100468" target="_blank">Full Text</a>]
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Moller1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Moller, C. G., Kimberling, W. J., Davenport, S. L. H., Priluck, I., White, V., Biscone-Halterman, K., Odkvist, L. M., Brookhouser, P. E., Lund, G., Grissom, T. J.
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|
<strong>Usher syndrome: an otoneurologic study.</strong>
|
|
Laryngoscope 99: 73-79, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909824</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2909824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1288/00005537-198901000-00014" target="_blank">Full Text</a>]
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Pelias1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pelias, M. Z., Lemoine, D. R., Kossar, A. L., Ward, L. J., Wilson, A. F., Elston, R. C.
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<strong>Linkage studies of Usher syndrome: analysis of an Acadian kindred in Louisiana.</strong>
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Cytogenet. Cell Genet. 47: 111-112, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3162715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3162715</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3162715" 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/10.1159/000132524" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Saihan2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Saihan, Z., Stabej, P. L. Q., Robson, A. G., Rangesh, N., Holder, G. E., Moore, A. T., Steel, K. P., Luxon, L. M., Bitner-Glindzicz, M., Webster, A. R.
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<strong>Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss.</strong>
|
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Retina 31: 1708-1716, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21487335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21487335</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21487335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/IAE.0b013e31820d3fd1" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Smith1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Smith, R. J. H., Daiger, S. P., Pelias, M. Z., Giesenschlag, N., Hejtmancik, J. F.
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<strong>Multipoint linkage analysis of Usher syndrome: exclusion of chromosome 4. (Abstract)</strong>
|
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Cytogenet. Cell Genet. 51: 1082 only, 1989.
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<a id="13" class="mim-anchor"></a>
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<a id="Smith1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Smith, R. J. H., Holcomb, J. D., Caskey, C. T., Pelias, M. Z., Daiger, S. P., Heitmancik, J. F.
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<strong>Multipoint linkage analysis of Usher syndrome: exclusion of chromosome 4. (Abstract)</strong>
|
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Am. J. Hum. Genet. 43: A159 only, 1988.
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<a id="14" class="mim-anchor"></a>
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<a id="Smith1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Smith, R. J. H., Lee, E. C., Kimberling, W. J., Daiger, S. P., Pelias, M. Z., Keats, B. J. B., Jay, M., Bird, A., Reardon, W., Guest, M., Ayyagari, R., Hejtmancik, J. F.
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<strong>Localization of two genes for Usher syndrome type I to chromosome 11.</strong>
|
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Genomics 14: 995-1002, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1478678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1478678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1478678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0888-7543(05)80122-3" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Smith1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Smith, R. J. H., Pelias, M. Z., Daiger, S. P., Keats, B., Kimberling, W., Hejtmancik, J. F.
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<strong>Clinical variability and genetic heterogeneity within the Acadian Usher population.</strong>
|
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Am. J. Med. Genet. 43: 964-969, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415347</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1415347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320430612" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Verpy2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Verpy, E., Leibovici, M., Zwaenepoel, I., Liu, X.-Z., Gal, A., Salem, N., Mansour, A., Blanchard, S., Kobayashi, I., Keats, B. J. B., Slim, R., Petit, C.
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<strong>A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.</strong>
|
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Nature Genet. 26: 51-55, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973247</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973247" 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/10.1038/79171" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<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 : 1/16/2013
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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 : 4/25/2012<br>Anne M. Stumpf - updated : 10/19/2000<br>Victor A. McKusick - updated : 8/28/2000
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 1/7/1993
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 01/15/2015
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<span class="mim-text-font">
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carol : 1/15/2015<br>carol : 4/15/2014<br>mcolton : 4/15/2014<br>carol : 1/23/2013<br>terry : 1/16/2013<br>carol : 4/26/2012<br>ckniffin : 4/25/2012<br>ckniffin : 4/25/2012<br>carol : 5/6/2011<br>carol : 2/28/2006<br>carol : 2/28/2006<br>alopez : 1/26/2006<br>alopez : 1/26/2006<br>carol : 12/5/2001<br>carol : 10/23/2001<br>carol : 10/19/2000<br>alopez : 10/19/2000<br>alopez : 8/29/2000<br>terry : 8/28/2000<br>mark : 12/12/1995<br>terry : 12/11/1995<br>terry : 3/7/1995<br>mimadm : 3/12/1994<br>carol : 1/28/1993<br>carol : 1/11/1993<br>carol : 1/7/1993
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<span class="mim-font">
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<strong>#</strong> 276904
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<h3>
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USHER SYNDROME, TYPE IC; USH1C
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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USHER SYNDROME, TYPE I, ACADIAN VARIETY
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<strong>ORPHA:</strong> 231169, 886;
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<strong>DO:</strong> 0110830;
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<td>
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<span class="mim-font">
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11p15.1
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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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Usher syndrome, type 1C
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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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276904
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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USH1C
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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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605242
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Usher syndrome type IC is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin (605242) on chromosome 11p15.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (276901) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3; 276902) have progressive hearing loss. </p><p>For a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 (276900).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kloepfer et al. (1966) identified 537 persons with hearing loss in a French-Acadian ('Cajun') group in Louisiana. Of the 468 living persons with hearing loss, at least 158 or about 30% were known to have retinitis pigmentosa and cataract. </p><p>Usher syndrome in French-Acadians is predominantly type I, although some type II cases have been identified (Smith et al., 1992). </p><p>Saihan et al. (2011) studied a 42-year-old woman and her 40-year-old brother from a Caucasian British family who at 4 years of age were diagnosed with severe hearing loss requiring hearing aids, and who also developed visual field loss and night blindness in the third and fourth decades of life, respectively. Language acquisition and speech development were normal, and there was no history of delay in motor milestones, consistent with normal vestibular function in infancy. Ophthalmic examination revealed that both sibs had sector retinitis pigmentosa restricted to the inferior and nasal retina, and fundus autofluorescence imaging showed a clear demarcation between normal and abnormal areas of retina, which corresponded to areas of reduced sensitivity on fine matrix mapping and loss of visual field. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In the Acadian families of Louisiana, Smith et al. (1992) demonstrated that Usher syndrome was linked to D11S419 (maximum lod = 4.20 at theta = 0.0), which is situated on 11p. A homologous region on mouse chromosome 7 is the site of a recessive deaf mutant 'twister' (twt), a disorder possibly homologous to Usher syndrome. </p><p>Keats et al. (1994) mapped the USH1C gene to a region of 11p15.1 by tight linkage to microsatellite markers. In addition, linkage disequilibrium was observed. Fantes et al. (1995) constructed an integrated map of this region, including the markers tightly linked to USH1C. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In patients with Usher syndrome IC, Verpy et al. (2000) found a splice site mutation (605242.0001), a frameshift mutation (605242.0002), and the expansion of an intronic variable number of tandem repeats (VNTRs) (605242.0003). Verpy et al. (2000) proposed that the USH1C gene also underlies the form of nonsyndromic autosomal recessive neurosensory deafness designated DFNB18 (602092), which maps to the same region of 11p. </p><p>Bitner-Glindzicz et al. (2000) identified the USH1C gene and detected 2 different homozygous mutations in exon 3, one in an Acadian family (605242.0004) and the other in a Pakistani family (605242.0002) with Usher syndrome type IC. Additionally, they identified a contiguous gene deletion syndrome (606528) that included part of the ABCC8 (600509) and USH1C genes in 2 consanguineous families. </p><p>In an extensive genetic study of 9 Usher syndrome genes in 172 patients with Usher syndrome due to various genetic defects, Le Quesne Stabej et al. (2012) found that mutations in the USH1C gene were the second most common defect, accounting for 14.9% of families. Four families carried a splice site mutation (495+1G-A; 605242.0006), and haplotype analysis indicated a founder effect. Mutations in the MYO7A gene (276903) were the most common in the cohort, accounting for 53.2% of families. </p><p>In 2 sibs from a Caucasian British family who were diagnosed with hearing loss at 4 years of age and who developed retinitis pigmentosa of the 'sector' type in the third and fourth decades of life, respectively, Saihan et al. (2011) identified compound heterozygosity for a missense mutation (R103H; 605242.0011) and a splice site mutation (605242.0012) in the USH1C gene. Both sibs were negative for pathogenic changes in 7 other Usher-associated genes. Their unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in 866 control chromosomes. Saihan et al. (2011) noted that both the retinal and the audiovestibular phenotypes in the sibs were much milder than those previously reported in cases of USH1C-related nonsyndromic hearing loss or Usher syndrome type I. </p><p>Using a combination of whole-genome SNP analysis as well as whole-exome sequencing in 2 Israeli families of Yemenite Jewish descent with retinitis pigmentosa, Khateb et al. (2012) identified a homozygous 1-bp deletion in the USH1C gene (1220delG; 605242.0013) that was confirmed by Sanger sequencing and cosegregated fully with the phenotype in both families. The mutation was part of a shared homozygous haplotype of 27 SNPs shared by the probands from the 2 families, indicating a founder mutation; screening for the 1220delG mutation in 119 ethnically matched controls revealed 1 heterozygous individual, for a carrier frequency of 0.008 in the Israeli Yemenite Jewish population. Screening 35 unrelated Yemenite Jewish patients with retinal degeneration identified 6 additional RP patients who were homozygous for the 1220delG mutation. Audiometric testing in 10 of the mutation-positive individuals revealed that 4 had mild to severe symmetric hearing impairment; the ages of the patients with deafness ranged from 38 to 72 years, whereas those of the patients with normal hearing ranged from 13 to 40 years. Khateb et al. (2012) stated that this was the first report of a mutation in a known USH1 gene causing late-onset rather than congenital sensorineural hearing loss, and noted that the mutation accounted for 23% of RP among Yemenite Jewish patients in their cohort. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>History</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>In the French-Acadian ('Cajun') population of southwestern Louisiana where Usher syndrome is frequent (Kloepfer et al., 1966), Daiger et al. (1987) and Pelias et al. (1988) found a suggestion of linkage to GC (139200) on 4q (maximum lod score = 1.41 at theta = 0.17). In the same large Louisiana kindred, Smith et al. (1988, 1989) excluded the Usher syndrome locus from a large part of chromosome 4 by multipoint linkage analysis. Notably, a 17-cM region around the GC locus was excluded by reason of a lod score less than -2.0. Bonneau et al. (1990) also excluded linkage to GC. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Bitner-Glindzicz, M., Lindley, K. J., Rutland, P., Blaydon, D., Smith, V. V., Milla, P. J., Hussain, K., Furth-Lavi, J., Cosgrove, K. E., Shepherd, R. M., Barnes, P. D., O'Brien, R. E., Farndon, P. A., Sowden, J., Liu, X.-Z., Scanlan, M. J., Malcolm, S., Dunne, M. J., Aynsley-Green, A., Glaser, B.
|
|
<strong>A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.</strong>
|
|
Nature Genet. 26: 56-60, 2000.
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[PubMed: 10973248]
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[Full Text: https://doi.org/10.1038/79178]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Bonneau, D., Kaplan, J., Berthier, M., Seger, J., Dufier, J. L., Frezal, J.
|
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<strong>Evidence against linkage of the gene for Usher's syndrome type 1 with group specific component (GC) on chromosome 4.</strong>
|
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Ann. Genet. 33: 103-104, 1990.
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[PubMed: 2241083]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Daiger, S. P., Bertin, T. K., Smith, R. J. H., Pelias, M. Z.
|
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<strong>Tentative linkage of Usher's syndrome to Gc on human chromosome 4. (Abstract)</strong>
|
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Cytogenet. Cell Genet. 46: 602 only, 1987.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Fantes, J. A., Oghene, K., Boyle, S., Danes, S., Fletcher, J. M., Bruford, E. A., Williamson, K., Seawright, A., Schedl, A., Hanson, I., Zehetner, G., Bhogal, R., Lehrach, H., Gregory, S., Williams, J., Little, P. F. R., Sellar, G. C., Hoovers, J., Mannens, M., Weissenbach, J., Junien, C., van Heyningen, V., Bickmore, W. A.
|
|
<strong>A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1.</strong>
|
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Genomics 25: 447-461, 1995.
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[PubMed: 7789978]
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[Full Text: https://doi.org/10.1016/0888-7543(95)80045-n]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Keats, B. J. B., Nouri, N., Pelias, M. Z., Deininger, P. L., Litt, M.
|
|
<strong>Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11.</strong>
|
|
Am. J. Hum. Genet. 54: 681-686, 1994.
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[PubMed: 8128966]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Khateb, S., Zelinger, L., Ben-Yosef, T., Merin, S., Crystal-Shalit, O., Gross, M., Banin, E., Sharon, D.
|
|
<strong>Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.</strong>
|
|
PLoS One 7: e51566, 2012. Note: Electronic Article.
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[PubMed: 23251578]
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[Full Text: https://doi.org/10.1371/journal.pone.0051566]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kloepfer, H. W., Laguaite, J. K., McLaurin, J. W.
|
|
<strong>The hereditary syndrome of congenital deafness and retinitis pigmentosa: (Usher's syndrome).</strong>
|
|
Laryngoscope 76: 850-862, 1966.
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[PubMed: 5937908]
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[Full Text: https://doi.org/10.1288/00005537-196605000-00004]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Le Quesne Stabej, P., Saihan, Z., Rangesh, N., Steele-Stallard, H. B., Ambrose, J., Coffey, A., Emmerson, J., Haralambous, E., Hughes, Y., Steel, K. P., Luxon, L. M., Webster, A. R., Bitner-Glindzicz, M.
|
|
<strong>Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.</strong>
|
|
J. Med. Genet. 49: 27-36, 2012.
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[PubMed: 22135276]
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[Full Text: https://doi.org/10.1136/jmedgenet-2011-100468]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Moller, C. G., Kimberling, W. J., Davenport, S. L. H., Priluck, I., White, V., Biscone-Halterman, K., Odkvist, L. M., Brookhouser, P. E., Lund, G., Grissom, T. J.
|
|
<strong>Usher syndrome: an otoneurologic study.</strong>
|
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Laryngoscope 99: 73-79, 1989.
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[PubMed: 2909824]
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[Full Text: https://doi.org/10.1288/00005537-198901000-00014]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Pelias, M. Z., Lemoine, D. R., Kossar, A. L., Ward, L. J., Wilson, A. F., Elston, R. C.
|
|
<strong>Linkage studies of Usher syndrome: analysis of an Acadian kindred in Louisiana.</strong>
|
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Cytogenet. Cell Genet. 47: 111-112, 1988.
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[PubMed: 3162715]
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[Full Text: https://doi.org/10.1159/000132524]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Saihan, Z., Stabej, P. L. Q., Robson, A. G., Rangesh, N., Holder, G. E., Moore, A. T., Steel, K. P., Luxon, L. M., Bitner-Glindzicz, M., Webster, A. R.
|
|
<strong>Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss.</strong>
|
|
Retina 31: 1708-1716, 2011.
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[PubMed: 21487335]
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[Full Text: https://doi.org/10.1097/IAE.0b013e31820d3fd1]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Smith, R. J. H., Daiger, S. P., Pelias, M. Z., Giesenschlag, N., Hejtmancik, J. F.
|
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<strong>Multipoint linkage analysis of Usher syndrome: exclusion of chromosome 4. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 1082 only, 1989.
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Smith, R. J. H., Holcomb, J. D., Caskey, C. T., Pelias, M. Z., Daiger, S. P., Heitmancik, J. F.
|
|
<strong>Multipoint linkage analysis of Usher syndrome: exclusion of chromosome 4. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 43: A159 only, 1988.
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Smith, R. J. H., Lee, E. C., Kimberling, W. J., Daiger, S. P., Pelias, M. Z., Keats, B. J. B., Jay, M., Bird, A., Reardon, W., Guest, M., Ayyagari, R., Hejtmancik, J. F.
|
|
<strong>Localization of two genes for Usher syndrome type I to chromosome 11.</strong>
|
|
Genomics 14: 995-1002, 1992.
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|
|
[PubMed: 1478678]
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[Full Text: https://doi.org/10.1016/s0888-7543(05)80122-3]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Smith, R. J. H., Pelias, M. Z., Daiger, S. P., Keats, B., Kimberling, W., Hejtmancik, J. F.
|
|
<strong>Clinical variability and genetic heterogeneity within the Acadian Usher population.</strong>
|
|
Am. J. Med. Genet. 43: 964-969, 1992.
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|
|
[PubMed: 1415347]
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[Full Text: https://doi.org/10.1002/ajmg.1320430612]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Verpy, E., Leibovici, M., Zwaenepoel, I., Liu, X.-Z., Gal, A., Salem, N., Mansour, A., Blanchard, S., Kobayashi, I., Keats, B. J. B., Slim, R., Petit, C.
|
|
<strong>A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.</strong>
|
|
Nature Genet. 26: 51-55, 2000.
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|
|
[PubMed: 10973247]
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[Full Text: https://doi.org/10.1038/79171]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Contributors:
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Marla J. F. O'Neill - updated : 1/16/2013<br>Cassandra L. Kniffin - updated : 4/25/2012<br>Anne M. Stumpf - updated : 10/19/2000<br>Victor A. McKusick - updated : 8/28/2000
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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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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 01/15/2015<br>carol : 1/15/2015<br>carol : 4/15/2014<br>mcolton : 4/15/2014<br>carol : 1/23/2013<br>terry : 1/16/2013<br>carol : 4/26/2012<br>ckniffin : 4/25/2012<br>ckniffin : 4/25/2012<br>carol : 5/6/2011<br>carol : 2/28/2006<br>carol : 2/28/2006<br>alopez : 1/26/2006<br>alopez : 1/26/2006<br>carol : 12/5/2001<br>carol : 10/23/2001<br>carol : 10/19/2000<br>alopez : 10/19/2000<br>alopez : 8/29/2000<br>terry : 8/28/2000<br>mark : 12/12/1995<br>terry : 12/11/1995<br>terry : 3/7/1995<br>mimadm : 3/12/1994<br>carol : 1/28/1993<br>carol : 1/11/1993<br>carol : 1/7/1993
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