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Entry
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- #605472 - USHER SYNDROME, TYPE IIC; USH2C
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- OMIM
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<p>
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<span class="h4">#605472</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/605472"><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="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=USHER SYNDROME, TYPE IIC" 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=19168&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Usher syndrome type 2 </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/NBK1341/" 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/7325" 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=605472[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=231178" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Usher syndrome type 2</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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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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<div 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:0110839" 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/605472" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<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> 231178, 886<br />
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<strong>DO:</strong> 0110839<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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605472
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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 IIC; USH2C
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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="includedTitles" 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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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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USHER SYNDROME, TYPE IIC, GPR98/PDZD7, DIGENIC, INCLUDED
|
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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USHER SYNDROME, TYPE IIB, FORMERLY, INCLUDED; USH2B, FORMERLY, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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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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</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/5/322?start=-3&limit=10&highlight=322">
|
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5q14.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Usher syndrome, type 2C, GPR98/PDZD7 digenic
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
<a href="/entry/605472"> 605472 </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">
|
|
ADGRV1
|
|
</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">
|
|
Usher syndrome, type 2C
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> 605472 </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">
|
|
ADGRV1
|
|
</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/10/491?start=-3&limit=10&highlight=491">
|
|
10q24.31
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Usher syndrome, type IIC, GPR98/PDZD7 digenic
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> 605472 </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">
|
|
PDZD7
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612971"> 612971 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/605472" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS276900" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/605472" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/605472" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br /> -
|
|
Digenic dominant (see MISCELLANEOUS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232308&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232308</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hearing loss, congenital sensorineural, moderate-severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854238&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854238</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Retinitis pigmentosa, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854239&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854239</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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Digenic form caused by heterozygous mutations in the GPR98 (<a href="/entry/602851#0010">602851.0010</a>) and PDZD7 (<a href="/entry/612971#0002">612971.0002</a>) genes<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the G protein-coupled receptor 98 gene (GPR98, <a href="/entry/602851#0002">602851.0002</a>)<br /> -
|
|
Caused by simultaneous mutation in the G protein-coupled receptor 98 gene (GPR98, <a href="/entry/602851#0010">602851.0010</a>) and the PDZ domain-containing 7 gene (PDZD7, <a href="/entry/612971#0002">612971.0002</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
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/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/10/209?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/10/281?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>
|
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<a href="/entry/612632"> 612632 </a>
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<a href="/entry/612632"> USH1H </a>
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<a href="/entry/612632"> 612632 </a>
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<a href="/entry/614869"> Usher syndrome, type IJ </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<a href="/entry/614869"> 614869 </a>
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<a href="/entry/605564"> CIB2 </a>
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<a href="/entry/605564"> 605564 </a>
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<a href="/entry/618144"> Usher syndrome, type IV </a>
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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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<a href="/entry/618144"> 618144 </a>
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<a href="/entry/610008"> ARSG </a>
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<a href="/entry/610008"> 610008 </a>
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<a href="/geneMap/17/925?start=-3&limit=10&highlight=925"> 17q25.1 </a>
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<a href="/entry/606943"> Usher syndrome, type 1G </a>
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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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<a href="/entry/606943"> 606943 </a>
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<a href="/entry/607696"> USH1G </a>
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<a href="/entry/602097"> Usher syndrome, type 1E </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<a href="/entry/602097"> 602097 </a>
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<a href="/entry/602097"> USH1E </a>
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<a href="/entry/602097"> 602097 </a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Usher syndrome type IIC (USH2C) is caused by homozygous or compound heterozygous mutation in the ADGRV1 gene (<a href="/entry/602851">602851</a>) on chromosome 5q14. It is also caused by biallelic digenic mutation in the ADGRV1 and PDZD7 (<a href="/entry/612971">612971</a>) genes.</p>
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<p>Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (<a href="#5" class="mim-tip-reference" title="Eudy, J. D., Weston, M. D., Yao, S., Hoover, D. M., Rehm, H. L., Ma-Edmonds, M., Yan, D., Ahmad, I., Cheng, J. J., Ayuso, C., Cremers, C., Davenport, S., Moller, C., Talmadge, C. B., Beisel, K. W., Tamayo, M., Morton, C. C., Swaroop, A., Kimberling, W. J., Sumegi, J. <strong>Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.</strong> Science 280: 1753-1757, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9624053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9624053</a>] [<a href="https://doi.org/10.1126/science.280.5370.1753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9624053">Eudy et al., 1998</a>). See <a href="/entry/276900">276900</a> for clinical characterization of Usher syndrome types I, II, and III. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9624053" 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 II, see USH2A (<a href="/entry/276901">276901</a>).</p>
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<p><a href="#4" class="mim-tip-reference" title="Ebermann, I., Wiesen, M. H. J., Zrenner, E., Lopez, I., Pigeon, R., Kohl, S., Lowenheim, H., Koenekoop, R. K., Bolz, H. J. <strong>GPR98 mutations cause Usher syndrome type 2 in males.</strong> J. Med. Genet. 46: 277-280, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19357117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19357117</a>] [<a href="https://doi.org/10.1136/jmg.2008.059626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19357117">Ebermann et al. (2009)</a> reported a German brother and sister with USH2C. The patients were 43 and 50 years old, respectively, at the time of the examination. Both patients had congenital, bilateral, symmetric, moderate to severe hearing loss with a mildly downsloping pure tone audiogram. The woman had slightly better visual acuity and later onset of visual defects than her brother, but both had retinitis pigmentosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19357117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Malm, E., Ponjavic, V., Moller, C., Kimberling, W. J., Andreasson, S. <strong>Phenotypes in defined genotypes including siblings with Usher syndrome.</strong> Ophthalmic Genet. 32: 65-74, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21174530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21174530</a>] [<a href="https://doi.org/10.3109/13816810.2010.536064" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21174530">Malm et al. (2011)</a> evaluated visual function, comprising both the severity of the rod cone degeneration and the function in the macular region, in 12 patients genotyped as Usher syndrome 1B, 1D, 1F, 2A, 2C, or 3A, including 3 families with affected sibs, and confirmed phenotypic heterogeneity between sibs with the same genotype and between patients with different genotypes. In contrast to previous studies, they found marked phenotypic variation in retinal function including the macular area in 3 sibs with Usher syndrome 2C who had the same GPR98 mutation (<a href="/entry/602851#0004">602851.0004</a>). Two sibs, aged 48 and 52 years, had severe rod cone degeneration, whereas the third, aged 51 years, demonstrated only a slight visual handicap with moderately reduced rod and cone function according to full-field electroretinography, remaining function in the macular region according to multifocal electroretinography, visual acuity of 20/20, and almost normal macular structure according to optical coherence tomography. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21174530" 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>The transmission pattern of USH2C in the families reported by <a href="#13" class="mim-tip-reference" title="Weston, M. D., Luijendijk, M. W. J., Humphrey, K. D., Moller, C., Kimberling, W. J. <strong>Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.</strong> Am. J. Hum. Genet. 74: 357-366, 2004. Note: Erratum: 74: 1080 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14740321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14740321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14740321[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/381685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14740321">Weston et al. (2004)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14740321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Pieke-Dahl, S., Kimberling, W. J., Gorin, M. B., Weston, M. D., Furman, J. M. R., Pikus, A., Moller, C. <strong>Genetic heterogeneity of Usher syndrome type II.</strong> J. Med. Genet. 30: 843-848, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7901420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7901420</a>] [<a href="https://doi.org/10.1136/jmg.30.10.843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7901420">Pieke-Dahl et al. (1993)</a> observed a family in which 4 of 7 sibs had characteristics of Usher syndrome type II, i.e., deafness and retinitis pigmentosa with no vestibular dysfunction; nonlinkage to markers spanning the 1q32-q41 region, where the USH2A (<a href="/entry/276901">276901</a>) gene had been thought to be located, indicated further heterogeneity in Usher syndrome. Scrutiny of the phenotype suggested that the retinitis pigmentosa was of milder type than in the usual cases of Usher syndrome type II and that mild vestibular abnormalities were present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7901420" 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="Pieke-Dahl, S., Moller, C. G., Kelley, P. M., Astuato, L. M., Cremers, C. W. R. J., Gorin, M. B., Kimberling, W. J. <strong>Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q.</strong> J. Med. Genet. 37: 256-262, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10745043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10745043</a>] [<a href="https://doi.org/10.1136/jmg.37.4.256" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10745043">Pieke-Dahl et al. (2000)</a> reported linkage analysis in the family they reported in 1993 and in another large family with the same phenotype. A 2-point lod score of 3.1 was obtained with marker D5S484. A total of 9 unrelated 5q-linked families were subsequently identified, producing a maximum combined multipoint lod score of 5.86. Haplotype analysis of 5q markers indicated that this Usher syndrome locus, designated USH2C, is flanked by markers D5S428 and D5S433. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10745043" 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="Pieke-Dahl, S., Moller, C. G., Kelley, P. M., Astuato, L. M., Cremers, C. W. R. J., Gorin, M. B., Kimberling, W. J. <strong>Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q.</strong> J. Med. Genet. 37: 256-262, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10745043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10745043</a>] [<a href="https://doi.org/10.1136/jmg.37.4.256" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10745043">Pieke-Dahl et al. (2000)</a> reported that 3 families with an Usher syndrome type II phenotype did not link to 5q. In 2 of these families, there was severe early-onset retinitis pigmentosa and dental enamel anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10745043" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#13" class="mim-tip-reference" title="Weston, M. D., Luijendijk, M. W. J., Humphrey, K. D., Moller, C., Kimberling, W. J. <strong>Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.</strong> Am. J. Hum. Genet. 74: 357-366, 2004. Note: Erratum: 74: 1080 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14740321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14740321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14740321[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/381685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14740321">Weston et al. (2004)</a> analyzed the GPR98, or VLGR1, gene for mutations in chromosome 5q14-linked Usher syndrome (USH2C) and found mutations limited to 1 isoform, VLGR1b (<a href="/entry/602851#0002">602851.0002</a>-<a href="/entry/602851#0005">602851.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14740321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a large consanguineous Tunisian family with Usher syndrome type II, originally designated as USH2B, <a href="#8" class="mim-tip-reference" title="Hmani-Aifa, M., Benzina, Z., Zulfiqar, F., Dhouib, H., Shahzadi, A., Ghorbel, A., Rebai, A., Soderkvist, P., Riazuddin, S., Kimberling, W. J., Ayadi, H. <strong>Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.</strong> Europ. J. Hum. Genet. 17: 474-482, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18854872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18854872</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18854872[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/10.1038/ejhg.2008.167" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18854872">Hmani-Aifa et al. (2009)</a> identified a homozygous mutation in the GPR98 gene (Y6044C; <a href="/entry/602851#0006">602851.0006</a>). Heterozygous mutation carriers were unaffected. The family also segregated nonsyndromic retinitis pigmentosa-40 (RP40; <a href="/entry/613801">613801</a>) that was caused by a homozygous mutation in the PDE6B gene (<a href="/entry/180072#0007">180072.0007</a>). One family member who was doubly homozygous for both mutations had a more severe ocular phenotype. Two family members who were doubly heterozygous for both mutations were unaffected at ages 82 and 65 years, respectively. <a href="#8" class="mim-tip-reference" title="Hmani-Aifa, M., Benzina, Z., Zulfiqar, F., Dhouib, H., Shahzadi, A., Ghorbel, A., Rebai, A., Soderkvist, P., Riazuddin, S., Kimberling, W. J., Ayadi, H. <strong>Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.</strong> Europ. J. Hum. Genet. 17: 474-482, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18854872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18854872</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18854872[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/10.1038/ejhg.2008.167" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18854872">Hmani-Aifa et al. (2009)</a> commented that consanguinity can increase familial clustering of multiple hereditary diseases within the same family. The family had originally been reported by <a href="#7" class="mim-tip-reference" title="Hmani, M., Ghorbel, A., Boulila-Elgaied, A., Ben Zina, Z., Kammoun, W., Drira, M., Chaabouni, M., Petit, C., Ayadi, H. <strong>A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.</strong> Europ. J. Hum. Genet. 7: 363-367, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10234513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10234513</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10234513">Hmani et al. (1999)</a>. <a href="#8" class="mim-tip-reference" title="Hmani-Aifa, M., Benzina, Z., Zulfiqar, F., Dhouib, H., Shahzadi, A., Ghorbel, A., Rebai, A., Soderkvist, P., Riazuddin, S., Kimberling, W. J., Ayadi, H. <strong>Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.</strong> Europ. J. Hum. Genet. 17: 474-482, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18854872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18854872</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18854872[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/10.1038/ejhg.2008.167" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18854872">Hmani-Aifa et al. (2009)</a> concluded that the USH2B locus at chromosome 3p23-p24.2 does not exist and therefore withdrew the locus designation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10234513+18854872" 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="#6" class="mim-tip-reference" title="Hilgert, N., Kahrizi, K., Dieltjens, N., Bazazzadegan, N., Najmabadi, H., Smith, R. J. H., Van Camp, G. <strong>A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.</strong> J. Med. Genet. 46: 272-276, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19357116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19357116</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19357116[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2008.060947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19357116">Hilgert et al. (2009)</a> identified a homozygous 136-kb deletion in the GPR98 gene (<a href="/entry/602851#0007">602851.0007</a>) in 6 affected members of an extended consanguineous Iranian family with USH2C, including 3 men and 3 women. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19357116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Ebermann, I., Wiesen, M. H. J., Zrenner, E., Lopez, I., Pigeon, R., Kohl, S., Lowenheim, H., Koenekoop, R. K., Bolz, H. J. <strong>GPR98 mutations cause Usher syndrome type 2 in males.</strong> J. Med. Genet. 46: 277-280, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19357117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19357117</a>] [<a href="https://doi.org/10.1136/jmg.2008.059626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19357117">Ebermann et al. (2009)</a> identified pathogenic mutations in the GPR98 gene in 2 unrelated men with USH2C. One German man and his affected sister were compound heterozygous for GPR98 mutations (<a href="/entry/602851#0008">602851.0008</a> and <a href="/entry/602851#0009">602851.0009</a>). The findings indicated that men can also be affected with USH2C, and that males and females with GPR98 mutations show a typical USH2C phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19357117" 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 10 of 31 French USH2 patients who were not linked to the USH2A locus (<a href="/entry/608400">608400</a>), <a href="#2" class="mim-tip-reference" title="Besnard, T., Vache, C., Baux, D., Larrieu, L., Abadie, C., Blanchet, C., Odent, S., Blanchet, P., Calvas, P., Hamel, C., Dollfus, H., Lina-Granade, G., Lespinasse, J., David, A., Isidor, B., Morin, G., Malcolm, S., Tuffery-Giraud, S., Claustres, M., Roux, A.-F. <strong>Non-USH2A mutations in USH2 patients.</strong> Hum. Mutat. 33: 504-510, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22147658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22147658</a>] [<a href="https://doi.org/10.1002/humu.22004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22147658">Besnard et al. (2012)</a> identified mutations in the GPR98 gene. In 2 of the 10 patients, only 1 deleterious mutation was identified in GPR98; screening for large genomic rearrangements revealed a large duplication involving several exons of GPR98 in 1 of the patients. In the other patient, the PDZD7 gene (<a href="/entry/612971">612971</a>) was analyzed, but no mutations were found. <a href="#2" class="mim-tip-reference" title="Besnard, T., Vache, C., Baux, D., Larrieu, L., Abadie, C., Blanchet, C., Odent, S., Blanchet, P., Calvas, P., Hamel, C., Dollfus, H., Lina-Granade, G., Lespinasse, J., David, A., Isidor, B., Morin, G., Malcolm, S., Tuffery-Giraud, S., Claustres, M., Roux, A.-F. <strong>Non-USH2A mutations in USH2 patients.</strong> Hum. Mutat. 33: 504-510, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22147658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22147658</a>] [<a href="https://doi.org/10.1002/humu.22004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22147658">Besnard et al. (2012)</a> concluded that GPR98 mutations account for a small but significant proportion of mutations causing USH2 (6.4%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22147658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Usher Syndrome Type IIC, GPR98/PDZD7 Digenic</em></strong></p><p>
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In a 51-year-old German man with type II Usher syndrome, who was negative for mutation in the Usher syndrome genes USH2A (<a href="/entry/608400">608400</a>), WHRN (<a href="/entry/607928">607928</a>), and CLRN1 (<a href="/entry/606397">606397</a>), <a href="#3" class="mim-tip-reference" title="Ebermann, I., Phillips, J. B., Liebau, M. C., Koenekoop, R. K., Schermer, B., Lopez, I., Schafer, E., Roux, A.-F., Dafinger, C., Bernd, A., Zrenner, E., Claustres, M., Blanco, B., Nurnberg, G., Nurnberg, P., Ruland, R., Westerfield, M., Benzing, T., Bolz, H. J. <strong>PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.</strong> J. Clin. Invest. 120: 1812-1823, 2010. Note: Erratum: J. Clin. Invest. 121: 821 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20440071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20440071</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20440071[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI39715" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20440071">Ebermann et al. (2010)</a> identified a heterozygous frameshift mutation in the GPR98 gene (<a href="/entry/602851#0010">602851.0010</a>) and a heterozygous frameshift mutation in the PDZD7 gene (<a href="/entry/612971#0002">612971.0002</a>). No second mutant allele was detected in GPR98 or PDZD7. His unaffected sister was heterozygous for the PDZD7 mutation but did not carry the GPR98 mutation. The patient had onset of night blindness in early childhood, with retinitis pigmentosa diagnosed at 25 years of age and a posterior polar cataract at age 51 years. Funduscopic examination showed pale optic discs, narrowing of retinal vessels, and moderate bone spicule formation. Electroretinography revealed highly reduced photopic responses, and Goldmann visual field was 8 degrees. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20440071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 sibs with USH2C and 14 patients with USH2A, <a href="#12" class="mim-tip-reference" title="Schwartz, S. B., Aleman, T. S., Cideciyan, A. V., Windsor, E. A. M., Sumaroka, A., Roman, A. J., Rane, T., Smilko, E. E., Bennett, J., Stone, E. M., Kimberling, W. J., Liu, X.-Z., Jacobson, S. G. <strong>Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.</strong> Invest. Ophthal. Vis. Sci. 46: 734-743, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671307</a>] [<a href="https://doi.org/10.1167/iovs.04-1136" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671307">Schwartz et al. (2005)</a> investigated the retinal disease expression. The sibs with USH2C showed abnormal photoreceptor-mediated function in all retinal regions, and there was greater rod than cone dysfunction. USH2A had a wider spectrum of disease expression and included patients with normal function in some retinal regions. When abnormalities were detected, there was more rod than cone dysfunction. Retinal microstructure in both USH2C and USH2A shared the abnormality of loss of outer nuclear layer thickness. Cystic macular lesions complicated the central retinal structure in both genotypes. A coincidental finding in an USH2C patient was that oral intake of antihistamines was associated with temporary resolution of the macular cystic change. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15671307" 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="Abadie, C., Blanchet, C., Baux, D., Larrieu, L., Besnard, T., Ravel, P., Biboulet, R., Hamel, C., Malcolm, S., Mondain, M., Claustres, M., Roux, A.-F. <strong>Audiological findings in 100 USH2 patients.</strong> Clin. Genet. 82: 433-438, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21895633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21895633</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01772.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21895633">Abadie et al. (2012)</a> analyzed the audiologic findings in 100 USH2 patients, including 88 with USH2A (<a href="/entry/608400">608400</a>) mutations, 10 with GPR98 mutations, and 2 with WHRN (<a href="/entry/607928">607928</a>) mutations. The median age of diagnosis of hearing loss was 5 years (range, 8 months to 31 years), but some patients may have had earlier onset. Usher syndrome was diagnosed at a median age of 34.5 years. Most patients (76%) had moderate hearing loss and most (66%) had a gently down-sloping audiogram. The median pure tone average (PTA) was 59.7 dB. There were no significant differences between patients with USH2A and GPR98 mutations, but the GPR98 cases had a higher proportion of severe hearing loss (40%) compared to USH2A cases (16%). Among all groups, cut-off frequencies were noted at 500-1000 Hz. There was some intrafamilial variability. Overall, <a href="#1" class="mim-tip-reference" title="Abadie, C., Blanchet, C., Baux, D., Larrieu, L., Besnard, T., Ravel, P., Biboulet, R., Hamel, C., Malcolm, S., Mondain, M., Claustres, M., Roux, A.-F. <strong>Audiological findings in 100 USH2 patients.</strong> Clin. Genet. 82: 433-438, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21895633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21895633</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01772.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21895633">Abadie et al. (2012)</a> concluded that it is not possible to predict the mutated gene from audiograms in patients with USH2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21895633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Audiological findings in 100 USH2 patients.</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.2011.01772.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.2008.059626" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18854872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18854872</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18854872[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=18854872" 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/ejhg.2008.167" target="_blank">Full Text</a>]
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<strong>Phenotypes in defined genotypes including siblings with Usher syndrome.</strong>
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[<a href="https://doi.org/10.3109/13816810.2010.536064" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.30.10.843" target="_blank">Full Text</a>]
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Pieke-Dahl, S., Moller, C. G., Kelley, P. M., Astuato, L. M., Cremers, C. W. R. J., Gorin, M. B., Kimberling, W. J.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10745043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10745043</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10745043" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.37.4.256" target="_blank">Full Text</a>]
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Schwartz, S. B., Aleman, T. S., Cideciyan, A. V., Windsor, E. A. M., Sumaroka, A., Roman, A. J., Rane, T., Smilko, E. E., Bennett, J., Stone, E. M., Kimberling, W. J., Liu, X.-Z., Jacobson, S. G.
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<strong>Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.</strong>
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Invest. Ophthal. Vis. Sci. 46: 734-743, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671307</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15671307" 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/10.1167/iovs.04-1136" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Weston2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weston, M. D., Luijendijk, M. W. J., Humphrey, K. D., Moller, C., Kimberling, W. J.
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<strong>Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.</strong>
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Am. J. Hum. Genet. 74: 357-366, 2004. Note: Erratum: 74: 1080 only, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14740321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14740321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14740321[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=14740321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/381685" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Cassandra L. Kniffin - updated : 2/26/2013
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 6/8/2012<br>Jane Kelly - updated : 8/26/2011<br>Marla J. F. O'Neill - updated : 5/3/2011<br>Cassandra L. Kniffin - updated : 5/21/2009<br>Cassandra L. Kniffin - updated : 4/16/2009<br>Jane Kelly - updated : 5/18/2005<br>Victor A. McKusick - updated : 1/30/2004
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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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Michael J. Wright : 12/12/2000
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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alopez : 05/31/2024
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mgross : 08/31/2016<br>alopez : 02/19/2016<br>carol : 4/15/2014<br>mcolton : 4/15/2014<br>carol : 3/4/2013<br>ckniffin : 2/26/2013<br>terry : 6/8/2012<br>carol : 6/7/2012<br>alopez : 2/3/2012<br>carol : 8/29/2011<br>terry : 8/26/2011<br>carol : 5/5/2011<br>carol : 5/5/2011<br>terry : 5/3/2011<br>alopez : 3/14/2011<br>wwang : 10/29/2009<br>ckniffin : 5/21/2009<br>wwang : 4/30/2009<br>ckniffin : 4/16/2009<br>wwang : 8/27/2007<br>tkritzer : 5/18/2005<br>alopez : 2/4/2004<br>cwells : 1/30/2004<br>carol : 12/12/2000
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<span class="mim-font">
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<strong>#</strong> 605472
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<div>
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<h3>
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<span class="mim-font">
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USHER SYNDROME, TYPE IIC; USH2C
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Other entities represented in this entry:
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<span class="h3 mim-font">
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USHER SYNDROME, TYPE IIC, GPR98/PDZD7, DIGENIC, INCLUDED
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<span class="h4 mim-font">
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USHER SYNDROME, TYPE IIB, FORMERLY, INCLUDED; USH2B, FORMERLY, INCLUDED
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 231178, 886;
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<strong>DO:</strong> 0110839;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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5q14.3
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<td>
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<span class="mim-font">
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Usher syndrome, type 2C, GPR98/PDZD7 digenic
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</td>
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<td>
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<span class="mim-font">
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605472
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<td>
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<span class="mim-font">
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Autosomal recessive; Digenic dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<td>
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<span class="mim-font">
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ADGRV1
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<span class="mim-font">
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602851
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5q14.3
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<span class="mim-font">
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Usher syndrome, type 2C
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<span class="mim-font">
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605472
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<td>
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<span class="mim-font">
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Autosomal recessive; Digenic dominant
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</td>
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<td>
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<span class="mim-font">
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3
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<td>
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<span class="mim-font">
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ADGRV1
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<td>
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<span class="mim-font">
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602851
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<span class="mim-font">
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10q24.31
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<span class="mim-font">
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Usher syndrome, type IIC, GPR98/PDZD7 digenic
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</td>
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<td>
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<span class="mim-font">
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605472
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<td>
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<span class="mim-font">
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Autosomal recessive; Digenic dominant
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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PDZD7
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<span class="mim-font">
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612971
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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 IIC (USH2C) is caused by homozygous or compound heterozygous mutation in the ADGRV1 gene (602851) on chromosome 5q14. It is also caused by biallelic digenic mutation in the ADGRV1 and PDZD7 (612971) genes.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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 is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998). See 276900 for clinical characterization of Usher syndrome types I, II, and III. </p><p>For a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A (276901).</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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<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>Ebermann et al. (2009) reported a German brother and sister with USH2C. The patients were 43 and 50 years old, respectively, at the time of the examination. Both patients had congenital, bilateral, symmetric, moderate to severe hearing loss with a mildly downsloping pure tone audiogram. The woman had slightly better visual acuity and later onset of visual defects than her brother, but both had retinitis pigmentosa. </p><p>Malm et al. (2011) evaluated visual function, comprising both the severity of the rod cone degeneration and the function in the macular region, in 12 patients genotyped as Usher syndrome 1B, 1D, 1F, 2A, 2C, or 3A, including 3 families with affected sibs, and confirmed phenotypic heterogeneity between sibs with the same genotype and between patients with different genotypes. In contrast to previous studies, they found marked phenotypic variation in retinal function including the macular area in 3 sibs with Usher syndrome 2C who had the same GPR98 mutation (602851.0004). Two sibs, aged 48 and 52 years, had severe rod cone degeneration, whereas the third, aged 51 years, demonstrated only a slight visual handicap with moderately reduced rod and cone function according to full-field electroretinography, remaining function in the macular region according to multifocal electroretinography, visual acuity of 20/20, and almost normal macular structure according to optical coherence tomography. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of USH2C in the families reported by Weston et al. (2004) was consistent with autosomal recessive inheritance. </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>Pieke-Dahl et al. (1993) observed a family in which 4 of 7 sibs had characteristics of Usher syndrome type II, i.e., deafness and retinitis pigmentosa with no vestibular dysfunction; nonlinkage to markers spanning the 1q32-q41 region, where the USH2A (276901) gene had been thought to be located, indicated further heterogeneity in Usher syndrome. Scrutiny of the phenotype suggested that the retinitis pigmentosa was of milder type than in the usual cases of Usher syndrome type II and that mild vestibular abnormalities were present. </p><p>Pieke-Dahl et al. (2000) reported linkage analysis in the family they reported in 1993 and in another large family with the same phenotype. A 2-point lod score of 3.1 was obtained with marker D5S484. A total of 9 unrelated 5q-linked families were subsequently identified, producing a maximum combined multipoint lod score of 5.86. Haplotype analysis of 5q markers indicated that this Usher syndrome locus, designated USH2C, is flanked by markers D5S428 and D5S433. </p><p>Pieke-Dahl et al. (2000) reported that 3 families with an Usher syndrome type II phenotype did not link to 5q. In 2 of these families, there was severe early-onset retinitis pigmentosa and dental enamel anomalies. </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>Weston et al. (2004) analyzed the GPR98, or VLGR1, gene for mutations in chromosome 5q14-linked Usher syndrome (USH2C) and found mutations limited to 1 isoform, VLGR1b (602851.0002-602851.0005). </p><p>In affected members of a large consanguineous Tunisian family with Usher syndrome type II, originally designated as USH2B, Hmani-Aifa et al. (2009) identified a homozygous mutation in the GPR98 gene (Y6044C; 602851.0006). Heterozygous mutation carriers were unaffected. The family also segregated nonsyndromic retinitis pigmentosa-40 (RP40; 613801) that was caused by a homozygous mutation in the PDE6B gene (180072.0007). One family member who was doubly homozygous for both mutations had a more severe ocular phenotype. Two family members who were doubly heterozygous for both mutations were unaffected at ages 82 and 65 years, respectively. Hmani-Aifa et al. (2009) commented that consanguinity can increase familial clustering of multiple hereditary diseases within the same family. The family had originally been reported by Hmani et al. (1999). Hmani-Aifa et al. (2009) concluded that the USH2B locus at chromosome 3p23-p24.2 does not exist and therefore withdrew the locus designation. </p><p>Hilgert et al. (2009) identified a homozygous 136-kb deletion in the GPR98 gene (602851.0007) in 6 affected members of an extended consanguineous Iranian family with USH2C, including 3 men and 3 women. </p><p>Ebermann et al. (2009) identified pathogenic mutations in the GPR98 gene in 2 unrelated men with USH2C. One German man and his affected sister were compound heterozygous for GPR98 mutations (602851.0008 and 602851.0009). The findings indicated that men can also be affected with USH2C, and that males and females with GPR98 mutations show a typical USH2C phenotype. </p><p>In 10 of 31 French USH2 patients who were not linked to the USH2A locus (608400), Besnard et al. (2012) identified mutations in the GPR98 gene. In 2 of the 10 patients, only 1 deleterious mutation was identified in GPR98; screening for large genomic rearrangements revealed a large duplication involving several exons of GPR98 in 1 of the patients. In the other patient, the PDZD7 gene (612971) was analyzed, but no mutations were found. Besnard et al. (2012) concluded that GPR98 mutations account for a small but significant proportion of mutations causing USH2 (6.4%). </p><p><strong><em>Usher Syndrome Type IIC, GPR98/PDZD7 Digenic</em></strong></p><p>
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In a 51-year-old German man with type II Usher syndrome, who was negative for mutation in the Usher syndrome genes USH2A (608400), WHRN (607928), and CLRN1 (606397), Ebermann et al. (2010) identified a heterozygous frameshift mutation in the GPR98 gene (602851.0010) and a heterozygous frameshift mutation in the PDZD7 gene (612971.0002). No second mutant allele was detected in GPR98 or PDZD7. His unaffected sister was heterozygous for the PDZD7 mutation but did not carry the GPR98 mutation. The patient had onset of night blindness in early childhood, with retinitis pigmentosa diagnosed at 25 years of age and a posterior polar cataract at age 51 years. Funduscopic examination showed pale optic discs, narrowing of retinal vessels, and moderate bone spicule formation. Electroretinography revealed highly reduced photopic responses, and Goldmann visual field was 8 degrees. </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>In 3 sibs with USH2C and 14 patients with USH2A, Schwartz et al. (2005) investigated the retinal disease expression. The sibs with USH2C showed abnormal photoreceptor-mediated function in all retinal regions, and there was greater rod than cone dysfunction. USH2A had a wider spectrum of disease expression and included patients with normal function in some retinal regions. When abnormalities were detected, there was more rod than cone dysfunction. Retinal microstructure in both USH2C and USH2A shared the abnormality of loss of outer nuclear layer thickness. Cystic macular lesions complicated the central retinal structure in both genotypes. A coincidental finding in an USH2C patient was that oral intake of antihistamines was associated with temporary resolution of the macular cystic change. </p><p>Abadie et al. (2012) analyzed the audiologic findings in 100 USH2 patients, including 88 with USH2A (608400) mutations, 10 with GPR98 mutations, and 2 with WHRN (607928) mutations. The median age of diagnosis of hearing loss was 5 years (range, 8 months to 31 years), but some patients may have had earlier onset. Usher syndrome was diagnosed at a median age of 34.5 years. Most patients (76%) had moderate hearing loss and most (66%) had a gently down-sloping audiogram. The median pure tone average (PTA) was 59.7 dB. There were no significant differences between patients with USH2A and GPR98 mutations, but the GPR98 cases had a higher proportion of severe hearing loss (40%) compared to USH2A cases (16%). Among all groups, cut-off frequencies were noted at 500-1000 Hz. There was some intrafamilial variability. Overall, Abadie et al. (2012) concluded that it is not possible to predict the mutated gene from audiograms in patients with USH2. </p>
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<strong>REFERENCES</strong>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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