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Entry
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- #276901 - USHER SYNDROME, TYPE IIA; USH2A
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- OMIM
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<p>
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<span class="h4">#276901</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/276901"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS276900"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#populationGenetics">Population Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=USHER SYNDROME, TYPE IIA" 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/7323" 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=276901[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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<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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</a>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110838" 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/276901" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA002624/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:276901" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</div>
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<div>
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<a id="title" class="mim-anchor"></a>
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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> 0110838<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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276901
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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 IIA; USH2A
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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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<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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<thead>
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<tr class="active">
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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
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</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">
|
|
Usher syndrome, type 2A
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276901"> 276901 </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">
|
|
USH2A
|
|
</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/10/491?start=-3&limit=10&highlight=491">
|
|
10q24.31
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Retinal disease in Usher syndrome type IIA, modifier of}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276901"> 276901 </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">
|
|
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/276901" 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/276901" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/276901" 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 />
|
|
|
|
</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 /> -
|
|
Normal vestibular response <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848635</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">
|
|
|
|
- Accounts for 70% of all Usher syndrome patients<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 usherin gene (USH2A, <a href="/entry/608400#0001">608400.0001</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 </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, 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/5/544?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 </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/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/10/491?start=-3&limit=10&highlight=491"> 10q24.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276901"> {Retinal disease in Usher syndrome type IIA, modifier of} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276901"> 276901 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612971"> PDZD7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612971"> 612971 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/491?start=-3&limit=10&highlight=491"> 10q24.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> Usher syndrome, type IIC, GPR98/PDZD7 digenic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> 605472 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612971"> PDZD7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612971"> 612971 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/210?start=-3&limit=10&highlight=210"> 11p15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276904"> Usher syndrome, type 1C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276904"> 276904 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605242"> USH1C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605242"> 605242 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/775?start=-3&limit=10&highlight=775"> 11q13.5 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276900"> Usher syndrome, type 1B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276900"> 276900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276903"> MYO7A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276903"> 276903 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/252?start=-3&limit=10&highlight=252"> 15q22-q23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612632"> Usher syndrome, type 1H </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612632"> 612632 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612632"> USH1H </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612632"> 612632 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/421?start=-3&limit=10&highlight=421"> 15q25.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614869"> Usher syndrome, type IJ </a>
|
|
</span>
|
|
</td>
|
|
<td>
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<p>A number sign (#) is used with this entry because Usher syndrome type IIA (USH2A) is caused by homozygous or compound heterozygous mutation in the gene encoding usherin (USH2A; <a href="/entry/608400">608400</a>) on chromosome 1q41.</p><p>Mutations in the same gene cause retinitis pigmentosa-39 (RP39; <a href="/entry/613809">613809</a>).</p>
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<p>Usher syndrome (USH) 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 (USH2) have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 types of Usher syndrome (<a href="#14" 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><strong><em>Genetic Heterogeneity of Usher Syndrome Type II</em></strong></p><p>
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Usher syndrome type II is genetically heterogeneous. USH2C (<a href="/entry/605472">605472</a>) is caused by mutation in the ADGRV1 gene (<a href="/entry/602851">602851</a>) or by biallelic digenic mutation in the ADGRV1 and PDZD7 (<a href="/entry/612971">612971</a>) genes. USH2D (<a href="/entry/611383">611383</a>) is caused by mutation in the WHRN gene (<a href="/entry/607928">607928</a>).</p><p>The locus designation USH2B has been withdrawn; see HISTORY.</p>
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<p><a href="#14" 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> characterized type IIa Usher syndrome as showing moderate to severe sensorineural hearing loss as well as progressive retinitis pigmentosa. <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><a href="#8" class="mim-tip-reference" title="Blanchet, P., Wellemeyer, M. L., Burton, G. V. <strong>Retinitis pigmentosa following cytotoxic chemotherapy in Usher's syndrome.</strong> Am. J. Med. Sci. 303: 319-320, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1580321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1580321</a>] [<a href="https://doi.org/10.1097/00000441-199205000-00010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1580321">Blanchet et al. (1992)</a> described a patient with presumably type II Usher syndrome who had apparent acceleration of retinitis pigmentosa following cytotoxic chemotherapy for non-Hodgkin lymphoma. <a href="#26" class="mim-tip-reference" title="Robbins, J. H., Scudiero, D. A., Otsuka, F., Tarone, R. E., Brumback, R. A., Wirtschafter, J. D., Polinsky, R. J., Barrett, S. F., Moshell, A. N., Scarpinato, R. G., Ganges, M. B., Nee, L. E., Meyer, S. A., Clatterbuck, B. E. <strong>Hypersensitivity to DNA-damaging agents in cultured cells from patients with Usher's syndrome and Duchenne muscular dystrophy.</strong> J. Neurol. Neurosurg. Psychiat. 47: 391-398, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6726265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6726265</a>] [<a href="https://doi.org/10.1136/jnnp.47.4.391" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6726265">Robbins et al. (1984)</a> claimed that lymphoid and fibroblast cell lines derived from patients with Usher syndrome are hypersensitive to DNA-damaging agents such as x-ray. Lymphoblastoid cells from dominantly inherited RP showed no hypersensitivity. Thus, the DNA-damaging effects of chemotherapy may have had particularly deleterious consequences for this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6726265+1580321" 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>Based on the observation that both sperm and retina are rich in docosahexaenoic acid (DHA) and that blood levels of DHA in RP patients are less than normal, <a href="#9" class="mim-tip-reference" title="Connor, W. E., Weleber, R. G., DeFrancesco, C., Lin, D. S., Wolf, D. P. <strong>Sperm abnormalities in retinitis pigmentosa.</strong> Invest. Ophthal. Vis. Sci. 38: 2619-2628, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9375581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9375581</a>]" pmid="9375581">Connor et al. (1997)</a> studied the lipid composition of erythrocytes and sperm in 26 patients with RP and in 8 healthy men. The sperm of patients with RP had a much lower DHA concentration, a lower desmosterol-to-cholesterol ratio, reduced motility, abnormal structure, and lower sperm counts compared with that in normal subjects. Patients with Usher syndrome type II exhibited the most pronounced reductions of DHA in sperm. Sperm DHA concentration was positively correlated to sperm motility, to sperm count, and to the desmosterol-to-cholesterol ratio. Lower erythrocyte DHA was also observed in RP patients. <a href="#9" class="mim-tip-reference" title="Connor, W. E., Weleber, R. G., DeFrancesco, C., Lin, D. S., Wolf, D. P. <strong>Sperm abnormalities in retinitis pigmentosa.</strong> Invest. Ophthal. Vis. Sci. 38: 2619-2628, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9375581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9375581</a>]" pmid="9375581">Connor et al. (1997)</a> concluded that sperm of patients with RP, particularly those with Usher syndrome type II, may have an abnormal lipid composition that is associated with reduced motility. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9375581" 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="#15" class="mim-tip-reference" title="Hmani-Aifa, M., Ben Arab, S., Kharrat, K., Orten, D. J., Boulila-Elgaied, A., Drira, M., Hachicha, S., Kimberling, W. J., Ayadi, H. <strong>Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome. (Letter)</strong> J. Med. Genet. 39: 281-283, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11950859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11950859</a>] [<a href="https://doi.org/10.1136/jmg.39.4.281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11950859">Hmani-Aifa et al. (2002)</a> reported a family from Tunisia in which 7 members were affected with Usher syndrome type IIa. Audiometry tests showed a moderate to profound bilateral sensorineural hearing loss, and ophthalmologic examination detected RP with the appearance of night blindness in the first or second decade. There was no vestibular dysfunction. Mutation analysis detected a mutation in the usherin gene that segregated with the disorder. <a href="#15" class="mim-tip-reference" title="Hmani-Aifa, M., Ben Arab, S., Kharrat, K., Orten, D. J., Boulila-Elgaied, A., Drira, M., Hachicha, S., Kimberling, W. J., Ayadi, H. <strong>Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome. (Letter)</strong> J. Med. Genet. 39: 281-283, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11950859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11950859</a>] [<a href="https://doi.org/10.1136/jmg.39.4.281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11950859">Hmani-Aifa et al. (2002)</a> compared the findings in this family with those in a family with Usher syndrome type IIb. The hearing loss in type IIa was greater than that in type IIb at low frequencies (0.25, 0.5, and 1 kHz). In addition, the onset of RP was slightly later in type IIb, occurring in the late second or early third decade. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11950859" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Iannaccone, A., Kritchevsky, S. B., Ciccarelli, M. L., Tedesco, S. A., Macaluso, C., Kimberling, W. J., Somes, G. W. <strong>Kinetics of visual field loss in Usher syndrome type II.</strong> Invest. Ophthal. Vis. Sci. 45: 784-792, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14985291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14985291</a>] [<a href="https://doi.org/10.1167/iovs.03-0906" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14985291">Iannaccone et al. (2004)</a> found that the kinetics of Goldmann visual field (GVF) decline in 19 patients with Usher syndrome type II were, on average, very similar to those in other forms of RP. Their findings suggested the existence of stereotypical disease mechanism(s) that may characterize most patients with RP and related conditions once their degenerative process has become symptomatic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14985291" 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="#22" 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 all patients examined with ERG, the 30 Hz flicker response revealed remaining cone function. Optical coherence tomography (OCT) demonstrated loss of foveal depression with distortion of the foveal architecture in the macula of all patients. The foveal thickness ranged from 159 to 384 micrometers and was not correlated with retinal function. <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>In studies of 8 USH2 families, <a href="#18" class="mim-tip-reference" title="Kimberling, W. J., Weston, M. D., Moller, C., Davenport, S. L. H., Shugart, Y. Y., Priluck, I. A., Martini, A., Milani, M., Smith, R. J. <strong>Localization of Usher syndrome type II to chromosome 1q.</strong> Genomics 7: 245-249, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347588</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90546-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347588">Kimberling et al. (1990)</a> found linkage to 3 markers in the distal region of 1q, with a maximum multipoint lod score of 6.37 at marker THH33 (D1S81). Nine USH1 families failed to show linkage to the same 3 markers. <a href="#20" class="mim-tip-reference" title="Lewis, R. A., Otterud, B., Stauffer, D., Lalouel, J.-M., Leppert, M. <strong>Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q.</strong> Genomics 7: 250-256, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1971808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1971808</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90547-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1971808">Lewis et al. (1990)</a> performed linkage studies in 6 families with USH1 and 22 families with USH2. In the USH2 kindreds, linkage was found to DNA marker THH33 located on 1q; maximum lod score = 6.5 at 9 cM. Linkage to this marker was not found in the USH1 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2347588+1971808" 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>At least 1 family studied by <a href="#24" class="mim-tip-reference" title="Pieke Dahl, S., Weston, M. D., Kimberling, W. J., Gorin, M. B., Shugart, Y. Y., Kenyon, J. B. <strong>Possible genetic heterogeneity of Usher syndrome type 2: a family unlinked to chromosome 1q markers. (Abstract)</strong> Am. J. Hum. Genet. 49 (suppl.): 200 only, 1991."None>Pieke Dahl et al. (1991)</a> failed to show linkage to 1q34-q41 markers, providing evidence that Usher syndrome type II is genetically heterogeneous. <a href="#28" class="mim-tip-reference" title="Smith, R. J. H., Lee, E. C., Kimberling, W. J., Daiger, S. P., Pelias, M. Z., Keats, B. J. B., Jay, M., Bird, A., Reardon, W., Guest, M., Ayyagari, R., Hejtmancik, J. F. <strong>Localization of two genes for Usher syndrome type I to chromosome 11.</strong> Genomics 14: 995-1002, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1478678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1478678</a>] [<a href="https://doi.org/10.1016/s0888-7543(05)80122-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1478678">Smith et al. (1992)</a> quoted Kimberling as estimating that 5 to 10% of USH2 families do not show linkage to this region of chromosome 1. By analysis of marker data on 68 Usher II families, <a href="#19" class="mim-tip-reference" title="Kimberling, W. J., Weston, M. D., Moller, C., van Aarem, A., Cremers, C. W. R. J., Sumegi, J., Ing, P. S., Connolly, C., Martini, A., Milani, M., Tamayo, M. L., Bernal, J., Greenberg, J., Ayuso, C. <strong>Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41.</strong> Am. J. Hum. Genet. 56: 216-223, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7825581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7825581</a>]" pmid="7825581">Kimberling et al. (1995)</a> placed the USH2A gene into a 2.1-cM region between the markers D1S237 and D1S229. The gene for transforming growth factor beta-2 (<a href="/entry/190220">190220</a>) and the gene for the homeodomain box HLX1 (<a href="/entry/142995">142995</a>) were eliminated as candidate genes by virtue of their localization outside these flanking markers. The earlier finding of genetic heterogeneity was confirmed in 6 new families, and the proportion of unlinked Usher II families was estimated to be 12.5%. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1478678+7825581" 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="#25" class="mim-tip-reference" title="Pieke-Dahl, S., van Aarem, A., Dobin, A., Cremers, C. W. R. J., Kimberling, W. J. <strong>Genetic heterogeneity of Usher syndrome type II in a Dutch population.</strong> J. Med. Genet. 33: 753-757, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8880575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8880575</a>] [<a href="https://doi.org/10.1136/jmg.33.9.753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8880575">Pieke-Dahl et al. (1996)</a> studied linkage to 1q41 markers in 29 Dutch families with clinical manifestations of Usher syndrome type 2. Linkage to 1q41 was shown in 26 families; therefore, 90% of these families have Usher syndrome type IIa. Three families showed no linkage to 1q41 markers; these families may have Usher syndrome type IIb. One of these families was also unlinked to 3q markers, excluding Usher syndrome type 3 (<a href="/entry/276902">276902</a>); the results in 2 other families were inconclusive for 3q markers. There were no significant associations between the USH2A gene and specific alleles from flanking loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8880575" 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="#7" class="mim-tip-reference" title="Bessant, D. A. R., Payne, A. M., Plant, C., Bird, A. C., Bhattacharya, S. S. <strong>Further refinement of the Usher 2A locus at 1q41.</strong> J. Med. Genet. 35: 773-774, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9733039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9733039</a>] [<a href="https://doi.org/10.1136/jmg.35.9.773" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9733039">Bessant et al. (1998)</a> further refined the USH2A locus in 4 families. They defined AFM143XF10 as the new centromeric flanking marker and AFM144XF2 as the telomeric flanking marker of the USH2A locus. <a href="#7" class="mim-tip-reference" title="Bessant, D. A. R., Payne, A. M., Plant, C., Bird, A. C., Bhattacharya, S. S. <strong>Further refinement of the Usher 2A locus at 1q41.</strong> J. Med. Genet. 35: 773-774, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9733039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9733039</a>] [<a href="https://doi.org/10.1136/jmg.35.9.773" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9733039">Bessant et al. (1998)</a> noted that this region is completely contained in 3 YACs from the CEPH library: 867g9, 919h3, and 848b9. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9733039" 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>Among 96 patients with Usher syndrome type IIa, <a href="#14" 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> identified 3 mutations in the USH2A gene (<a href="/entry/608400#0001">608400.0001</a>-<a href="/entry/608400#0003">608400.0003</a>), all of which resulted in frameshifts and premature terminations. A 2299delG mutation (<a href="/entry/608400#0001">608400.0001</a>) was the most frequent mutant allele, occurring in 21 cases. <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>In a mutation search of 57 independent USH2A probands, <a href="#30" class="mim-tip-reference" title="Weston, M. D., Eudy, J. D., Fujita, S., Yao, S.-F., Usami, S., Cremers, C., Greenburg, J., Ramesar, R., Martini, A., Moller, C., Smith, R. J., Sumegi, J., Kimberling, W. J. <strong>Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.</strong> Am. J. Hum. Genet. 66: 1199-1210, 2000. Note: Erratum: Am. J. Hum. Genet. 66: 2020 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10729113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10729113</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10729113[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/10.1086/302855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10729113">Weston et al. (2000)</a> identified 15 mutations in the USH2A gene. The 2299delG mutation was the most frequent mutant allele, observed in 31 of 192 alleles (16%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10729113" 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 12 unrelated patients with Usher syndrome, each with 1 mutation in exons 1 to 21 of the USH2A gene, <a href="#29" class="mim-tip-reference" title="van Wijk, E., Pennings, R. J. E., te Brinke, H., Claassen, A., Yntema, H. G., Hoefsloot, L. H., Cremers, F. P. M., Cremers, C. W. R. J., Kremer, H. <strong>Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.</strong> Am. J. Hum. Genet. 74: 738-744, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15015129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15015129</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15015129[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/10.1086/383096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15015129">van Wijk et al. (2004)</a> identified a second pathogenic USH2A mutation in the 51 novel exons that they identified. The novel mutations included 3 different truncating mutations and 2 missense mutations (see, e.g., <a href="/entry/608400#0007">608400.0007</a>-<a href="/entry/608400#0009">608400.0009</a>). The presence of pathogenic mutations in the novel exons indicated that at least 1 of the putative long isoforms of the USH2A protein plays a role in both hearing and vision. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15015129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Aller, E., Jaijo, T., Beneyto, M., Najera, C., Oltra, S., Ayuso, C., Baiget, M., Carballo, M., Antinolo, G., Valverde, D., Moreno, F., Vilela, C., Collado, D., Perez-Garrigues, H., Navea, A., Millan, J. M. <strong>Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.</strong> J. Med. Genet. 43: e55, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17085681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17085681</a>] [<a href="https://doi.org/10.1136/jmg.2006.041764" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17085681">Aller et al. (2006)</a> identified mutations in the USH2A gene in 14 of 32 unrelated Spanish patients with Usher syndrome, nonsyndromic retinal degeneration, or nonsyndromic deafness in whom 2 disease-causing mutations could not be found after screening the first 21 exons of the USH2A gene. Analysis of the 51 new exons identified by <a href="#29" class="mim-tip-reference" title="van Wijk, E., Pennings, R. J. E., te Brinke, H., Claassen, A., Yntema, H. G., Hoefsloot, L. H., Cremers, F. P. M., Cremers, C. W. R. J., Kremer, H. <strong>Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.</strong> Am. J. Hum. Genet. 74: 738-744, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15015129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15015129</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15015129[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/10.1086/383096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15015129">van Wijk et al. (2004)</a> and the 2 new exons identified by <a href="#2" class="mim-tip-reference" title="Adato, A., Lefevre, G., Delprat, B., Michel, V., Michalski, N., Chardenoux, S., Weil, D., El-Amraoui, A., Petit, C. <strong>Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells.</strong> Hum. Molec. Genet. 14: 3921-3922, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16301217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16301217</a>] [<a href="https://doi.org/10.1093/hmg/ddi416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16301217">Adato et al. (2005)</a> yielded 14 novel mutations, including 7 missense, 5 frameshift, 1 duplication, and 1 putative splice-site mutation. Most of the patients had previously been reported by <a href="#4" class="mim-tip-reference" title="Aller, E., Najera, C., Millan, J. M., Oltra, J. S., Perez-Garrigues, H., Vilela, C., Navea, A., Beneyto, M. <strong>Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.</strong> Europ. J. Hum. Genet. 12: 407-410, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14970843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14970843</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14970843">Aller et al. (2004)</a>. All of the individuals with 2 mutations were clinically diagnosed with Usher syndrome type IIa. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16301217+15015129+14970843+17085681" 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>To explore the spectrum of USH2A disease-causing mutations among Scandinavian USH2 cases, <a href="#10" class="mim-tip-reference" title="Dreyer, B., Brox, V., Tranebjaerg, L., Rosenberg, T., Sadeghi, A. M., Moller, C., Nilssen, O. <strong>Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.</strong> Hum. Mutat. 29: 451 only, 2008. Note: Full article online.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18273898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18273898</a>] [<a href="https://doi.org/10.1002/humu.9524" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18273898">Dreyer et al. (2008)</a> performed extensive DNA sequence analysis of the full-size USH2A gene in patients from 118 unrelated families, of which 27 had previously been found to carry mutations in exons 1 to 21. In all, 122 USH2A DNA sequence alterations were identified, of which 57 were predicted to be pathogenic, 7 were considered to be of uncertain pathogenicity, and 58 were predicted to be benign variants. Of 36 novel pathogenic USH2A mutations, 31 were located in exons 22 to 73, specific to the long isoform (see, e.g., <a href="/entry/608400#0013">608400.0013</a>). USH2A mutations were identified in 89 (75.4%) of 118 families. In 79 (88.8%) of these 89 families, 2 pathogenic mutations were identified, whereas in 10 families (11.2%) the second mutation remained unidentified. In 5 (4.2%) of the 118 families the USH phenotype could be explained by mutations in the CLRN1 gene (<a href="/entry/606397">606397</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18273898" 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="#31" class="mim-tip-reference" title="Yan, D., Ouyang, X., Patterson, D. M., Du, L. L., Jacobson, S. G., Liu, X.-Z. <strong>Mutation analysis in the long isoform of USH2A in American patients with Usher syndrome type II.</strong> J. Hum. Genet. 54: 732-738, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19881469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19881469</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19881469[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/jhg.2009.107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19881469">Yan et al. (2009)</a> identified mutant USH2A alleles in 12 (60%) of 20 American patients of European ancestry with Usher syndrome type IIa. Seven (35%) patients had only 1 pathogenic mutation, and 8 patients did not have USH2A mutations. There were 5 novel mutations and 5 previously reported mutations, consisting of 3 missense, 3 frameshift, and 4 nonsense. The 2299delG mutation was the most common, accounting for 38.9% of mutant alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19881469" 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>Genetic Heterogeneity of USH2</em></strong></p><p>
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In 31 French patients with USH2 who were not linked to the USH2A locus (<a href="/entry/608400">608400</a>), <a href="#6" 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> analyzed the GPR98 and WHRN genes: 10 patients were found to have mutations in GPR98, and 2 had mutations in WHRN. Analysis of the PDZD7 gene was performed in the remaining 19 patients, but no deleterious mutations were detected. Subsequent reassessment of the phenotype in the 19 mutation-negative patients revealed that 12 had atypical audiologic and/or ophthalmologic impairment, and 2 had clinical features such as renal impairment or dysmorphism that indicated the possibility of another syndrome. <a href="#6" 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%), and that mutations in WHRN account for a very small proportion (1.3%). <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>
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<p>To investigate genotype/phenotype correlations, <a href="#4" class="mim-tip-reference" title="Aller, E., Najera, C., Millan, J. M., Oltra, J. S., Perez-Garrigues, H., Vilela, C., Navea, A., Beneyto, M. <strong>Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.</strong> Europ. J. Hum. Genet. 12: 407-410, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14970843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14970843</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14970843">Aller et al. (2004)</a> screened 191 unrelated Spanish patients with syndromic or nonsyndromic retinal diseases, or with nonsyndromic hearing impairment, for the 2299delG (<a href="/entry/608400#0001">608400.0001</a>) and C759F (<a href="/entry/608400#0006">608400.0006</a>) mutations in the USH2A gene. They found that the 2299delG mutation was present in patients with clinical signs of Usher syndrome type II or of atypical Usher syndrome, whereas the C759F mutation, whether or not it was associated with the 2299delG mutation, was identified in cases with nonsyndromic retinitis pigmentosa. <a href="#4" class="mim-tip-reference" title="Aller, E., Najera, C., Millan, J. M., Oltra, J. S., Perez-Garrigues, H., Vilela, C., Navea, A., Beneyto, M. <strong>Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.</strong> Europ. J. Hum. Genet. 12: 407-410, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14970843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14970843</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14970843">Aller et al. (2004)</a> concluded that sensorineural hearing loss in patients with RP may depend on the nature and association of the USH2A allelic variants present. They recommended that patients with nonsyndromic RP and a USH2A mutation should be examined for auditory function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14970843" 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 3 sibs with USH2C (<a href="/entry/605472">605472</a>) and 14 patients with USH2A, <a href="#27" 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 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="#5" class="mim-tip-reference" title="Bernal, S., Meda, C., Solans, T., Ayuso, C., Garcia-Sandoval, B., Valverde, D., Del Rio, E., Baiget, M. <strong>Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype-phenotype correlation.</strong> Clin. Genet. 68: 204-214, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16098008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16098008</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2005.00481.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16098008">Bernal et al. (2005)</a> studied 28 Spanish patients with Usher syndrome type II, identifying 10 different pathogenic mutations and 17 polymorphisms in the USH2A gene. They observed discordant phenotypes in sib pairs from 2 unrelated families and noted that <a href="#21" class="mim-tip-reference" title="Liu, X.-Z., Hope, C., Liang, C. Y., Zou, J. M., Xu, L. R., Cole, T., Mueller, R. F., Bundey, S., Nance, W., Steel, K. P., Brown, S. D. M. <strong>A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. (Letter)</strong> Am. J. Hum. Genet. 64: 1221-1225, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10090909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10090909</a>] [<a href="https://doi.org/10.1086/302332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10090909">Liu et al. (1999)</a> had reported clinical differences in monozygotic twins with Usher syndrome type II and had suggested that variation in the expression of the USH2A gene is not determined simply by genetic factors. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16098008+10090909" 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="#13" 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> studied 2 French Canadian sisters with USH2A who were homozygous for the 4338delCT mutation in the USH2A gene (<a href="/entry/608400#0003">608400.0003</a>), and in 1 of the sisters, who had earlier onset and more severe retinal disease, they identified an additional de novo heterozygous frameshift mutation in the PDZD7 gene (<a href="/entry/612971#0001">612971.0001</a>). The PDZD7 mutation was not present in the other sister, who had a much milder retinal phenotype. <a href="#13" 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> concluded that PDZD7 is a retinal disease modifier in patients with USH2A. <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><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 mutations, 10 with GPR98 mutations, and 2 with WHRN 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%) patients 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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<p><a href="#11" class="mim-tip-reference" title="Dreyer, B., Tranebjaerg, L., Brox, V., Rosenberg, T., Moller, C., Beneyto, M., Weston, M. D., Kimberling, W. J., Nilssen, O. <strong>A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.</strong> Am. J. Hum. Genet. 69: 228-234, 2001. Note: Erratum: Am. J. Hum. Genet. 69: 922 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11402400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11402400</a>] [<a href="https://doi.org/10.1086/321269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11402400">Dreyer et al. (2001)</a> presented data indicating that the widespread geographic distribution of the USH2A 2299delG mutation (<a href="/entry/608400#0001">608400.0001</a>) is the result of an ancestral mutation that spread throughout Europe and into the New World as a result of migration. Various studies had reported a range of frequencies (from 0.16 to 0.44) among patients with Usher syndrome, depending on the geographic origin of the patients. <a href="#11" class="mim-tip-reference" title="Dreyer, B., Tranebjaerg, L., Brox, V., Rosenberg, T., Moller, C., Beneyto, M., Weston, M. D., Kimberling, W. J., Nilssen, O. <strong>A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.</strong> Am. J. Hum. Genet. 69: 228-234, 2001. Note: Erratum: Am. J. Hum. Genet. 69: 922 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11402400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11402400</a>] [<a href="https://doi.org/10.1086/321269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11402400">Dreyer et al. (2001)</a> performed haplotype analysis on DNA samples from 116 unrelated patients with Usher syndrome type IIa; the patients were from 14 countries and represented 148 2299delG alleles. On the basis of 6 single-nucleotide polymorphisms (SNPs) within the USH2A gene, 12 core haplotypes were observed in a panel of normal chromosomes. However, in their patient analysis, only 1 core haplotype was associated with the 2299delG mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11402400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Ouyang, X. M., Yan, D., Hejtmancik, J. F., Jacobson, S. G., Li, A. R., Du, L. L., Angeli, S., Kaiser, M., Balkany, T., Liu, X. Z. <strong>Mutational spectrum in Usher syndrome type II.</strong> Clin. Genet. 65: 288-293, 2004. Note: Erratum: Clin. Genet. 65: 433 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15025721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15025721</a>] [<a href="https://doi.org/10.1046/j.1399-0004.2004.00216.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15025721">Ouyang et al. (2004)</a> confirmed that 2299delG is the most common mutation in USH2A, accounting for 77.5% of pathologic alleles. In 5 of the 24 patients, the 2299delG mutation was present in homozygous state; in 3 it was present in compound heterozygous state with other mutations; and in 16 it was present in heterozygous state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15025721" 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="#12" class="mim-tip-reference" title="Ebermann, I., Koenekoop, R. K., Lopez, I., Bou-Khzam, L., Pigeon, R., Bolz, H. J. <strong>An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.</strong> Europ. J. Hum. Genet. 17: 80-84, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18665195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18665195</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18665195[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.2008.143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18665195">Ebermann et al. (2009)</a> identified a homozygous USH2A mutation (4338delCT; <a href="/entry/608400#0003">608400.0003</a>) in 4 of 9 French Canadian families with Usher syndrome type IIa from Quebec and New Brunswick, the former Acadia. Affected individuals from 2 additional families carried the mutation in heterozygosity. Altogether, the 4338delCT mutation accounted for 10 (55.6%) of 18 disease alleles. Haplotype analysis indicated a founder effect. The findings indicated that the Acadian and Quebec populations share common ancestors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18665195" 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="#16" 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 GPR98 mutations in the Usher II syndrome family previously mapped to the USH2B locus on chromosome 3p24.2-p23. They concluded that the USH2B locus does not exist and therefore withdrew the locus designation. <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'})"><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>REFERENCES</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/10.1093/hmg/ddi416" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.2006.041764" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14970843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14970843</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14970843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5201138" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16098008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16098008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16098008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2005.00481.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.35.9.773" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00000441-199205000-00010" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.9524" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/321269" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ejhg.2008.143" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.280.5370.1753" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.39.4.281" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ejhg.2008.167" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1167/iovs.03-0906" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0888-7543(90)90546-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0888-7543(90)90547-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/302332" target="_blank">Full Text</a>]
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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/10.1046/j.1399-0004.2004.00216.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.33.9.753" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jnnp.47.4.391" target="_blank">Full Text</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 href="https://doi.org/10.1016/s0888-7543(05)80122-3" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/383096" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/302855" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Yan, D., Ouyang, X., Patterson, D. M., Du, L. L., Jacobson, S. G., Liu, X.-Z.
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<strong>Mutation analysis in the long isoform of USH2A in American patients with Usher syndrome type II.</strong>
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J. Hum. Genet. 54: 732-738, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19881469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19881469</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19881469[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=19881469" 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/jhg.2009.107" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 2/26/2013
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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 : 6/14/2010<br>Cassandra L. Kniffin - updated : 4/2/2009<br>Cassandra L. Kniffin - updated : 12/28/2006<br>Marla J. F. O'Neill - updated : 3/13/2006<br>Jane Kelly - updated : 5/18/2005<br>Jane Kelly - updated : 8/12/2004<br>Marla J. F. O'Neill - updated : 6/2/2004<br>Cassandra L. Kniffin - reorganized : 1/22/2004<br>Victor A. McKusick - updated : 10/7/2002<br>Victor A. McKusick - updated : 8/16/2001<br>Victor A. McKusick - updated : 3/15/2001<br>Victor A. McKusick - updated : 7/25/2000<br>Victor A. McKusick - updated : 4/13/2000<br>Ada Hamosh - updated : 5/11/1999<br>Victor A. McKusick - updated : 4/9/1999<br>Michael J. Wright - updated : 10/7/1998<br>Victor A. McKusick - updated : 6/11/1998<br>Iosif W. Lurie - updated : 12/6/1996
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Creation Date:
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Victor A. McKusick : 3/2/1990
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carol : 02/29/2024
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carol : 12/01/2022<br>carol : 01/21/2020<br>carol : 06/01/2018<br>mgross : 08/31/2016<br>alopez : 02/19/2016<br>carol : 8/16/2013<br>carol : 3/4/2013<br>ckniffin : 2/26/2013<br>terry : 8/31/2012<br>alopez : 6/11/2012<br>terry : 6/8/2012<br>carol : 8/29/2011<br>terry : 8/26/2011<br>carol : 5/6/2011<br>carol : 5/5/2011<br>terry : 5/5/2011<br>terry : 5/3/2011<br>wwang : 6/21/2010<br>ckniffin : 6/14/2010<br>wwang : 6/23/2009<br>wwang : 4/30/2009<br>wwang : 4/17/2009<br>ckniffin : 4/2/2009<br>wwang : 8/27/2007<br>carol : 1/4/2007<br>ckniffin : 12/28/2006<br>wwang : 3/17/2006<br>terry : 3/13/2006<br>alopez : 7/28/2005<br>tkritzer : 5/18/2005<br>carol : 4/4/2005<br>carol : 10/28/2004<br>tkritzer : 8/20/2004<br>tkritzer : 8/12/2004<br>carol : 6/8/2004<br>terry : 6/2/2004<br>carol : 1/22/2004<br>ckniffin : 1/16/2004<br>carol : 10/24/2003<br>alopez : 10/8/2002<br>terry : 10/7/2002<br>mcapotos : 12/21/2001<br>mcapotos : 12/21/2001<br>cwells : 9/7/2001<br>cwells : 8/28/2001<br>terry : 8/16/2001<br>mcapotos : 3/27/2001<br>mcapotos : 3/22/2001<br>terry : 3/15/2001<br>carol : 12/12/2000<br>carol : 8/1/2000<br>terry : 7/25/2000<br>carol : 5/15/2000<br>terry : 4/13/2000<br>kayiaros : 7/12/1999<br>terry : 5/11/1999<br>carol : 4/12/1999<br>terry : 4/9/1999<br>carol : 10/12/1998<br>terry : 10/7/1998<br>alopez : 6/11/1998<br>alopez : 6/11/1998<br>alopez : 6/11/1998<br>terry : 6/11/1998<br>alopez : 6/11/1998<br>terry : 12/17/1996<br>jamie : 12/6/1996<br>jamie : 12/4/1996<br>carol : 2/2/1995<br>mimadm : 4/15/1994<br>carol : 11/5/1993<br>carol : 3/25/1993<br>carol : 1/7/1993<br>carol : 10/2/1992
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<span class="mim-font">
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<strong>#</strong> 276901
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USHER SYNDROME, TYPE IIA; USH2A
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<strong>ORPHA:</strong> 231178, 886;
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<strong>DO:</strong> 0110838;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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1q41
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Usher syndrome, type 2A
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276901
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Autosomal recessive
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3
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USH2A
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<span class="mim-font">
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608400
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10q24.31
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<span class="mim-font">
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{Retinal disease in Usher syndrome type IIA, modifier of}
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<span class="mim-font">
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276901
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Autosomal recessive
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3
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PDZD7
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<span class="mim-font">
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612971
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Usher syndrome type IIA (USH2A) is caused by homozygous or compound heterozygous mutation in the gene encoding usherin (USH2A; 608400) on chromosome 1q41.</p><p>Mutations in the same gene cause retinitis pigmentosa-39 (RP39; 613809).</p>
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<strong>Description</strong>
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<p>Usher syndrome (USH) 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 (USH2) have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 types of Usher syndrome (Eudy et al., 1998). See 276900 for clinical characterization of Usher syndrome types I, II, and III. </p><p><strong><em>Genetic Heterogeneity of Usher Syndrome Type II</em></strong></p><p>
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Usher syndrome type II is genetically heterogeneous. USH2C (605472) is caused by mutation in the ADGRV1 gene (602851) or by biallelic digenic mutation in the ADGRV1 and PDZD7 (612971) genes. USH2D (611383) is caused by mutation in the WHRN gene (607928).</p><p>The locus designation USH2B has been withdrawn; see HISTORY.</p>
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<strong>Clinical Features</strong>
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<p>Eudy et al. (1998) characterized type IIa Usher syndrome as showing moderate to severe sensorineural hearing loss as well as progressive retinitis pigmentosa. </p><p>Blanchet et al. (1992) described a patient with presumably type II Usher syndrome who had apparent acceleration of retinitis pigmentosa following cytotoxic chemotherapy for non-Hodgkin lymphoma. Robbins et al. (1984) claimed that lymphoid and fibroblast cell lines derived from patients with Usher syndrome are hypersensitive to DNA-damaging agents such as x-ray. Lymphoblastoid cells from dominantly inherited RP showed no hypersensitivity. Thus, the DNA-damaging effects of chemotherapy may have had particularly deleterious consequences for this patient. </p><p>Based on the observation that both sperm and retina are rich in docosahexaenoic acid (DHA) and that blood levels of DHA in RP patients are less than normal, Connor et al. (1997) studied the lipid composition of erythrocytes and sperm in 26 patients with RP and in 8 healthy men. The sperm of patients with RP had a much lower DHA concentration, a lower desmosterol-to-cholesterol ratio, reduced motility, abnormal structure, and lower sperm counts compared with that in normal subjects. Patients with Usher syndrome type II exhibited the most pronounced reductions of DHA in sperm. Sperm DHA concentration was positively correlated to sperm motility, to sperm count, and to the desmosterol-to-cholesterol ratio. Lower erythrocyte DHA was also observed in RP patients. Connor et al. (1997) concluded that sperm of patients with RP, particularly those with Usher syndrome type II, may have an abnormal lipid composition that is associated with reduced motility. </p><p>Hmani-Aifa et al. (2002) reported a family from Tunisia in which 7 members were affected with Usher syndrome type IIa. Audiometry tests showed a moderate to profound bilateral sensorineural hearing loss, and ophthalmologic examination detected RP with the appearance of night blindness in the first or second decade. There was no vestibular dysfunction. Mutation analysis detected a mutation in the usherin gene that segregated with the disorder. Hmani-Aifa et al. (2002) compared the findings in this family with those in a family with Usher syndrome type IIb. The hearing loss in type IIa was greater than that in type IIb at low frequencies (0.25, 0.5, and 1 kHz). In addition, the onset of RP was slightly later in type IIb, occurring in the late second or early third decade. </p><p>Iannaccone et al. (2004) found that the kinetics of Goldmann visual field (GVF) decline in 19 patients with Usher syndrome type II were, on average, very similar to those in other forms of RP. Their findings suggested the existence of stereotypical disease mechanism(s) that may characterize most patients with RP and related conditions once their degenerative process has become symptomatic. </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 all patients examined with ERG, the 30 Hz flicker response revealed remaining cone function. Optical coherence tomography (OCT) demonstrated loss of foveal depression with distortion of the foveal architecture in the macula of all patients. The foveal thickness ranged from 159 to 384 micrometers and was not correlated with retinal function. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>In studies of 8 USH2 families, Kimberling et al. (1990) found linkage to 3 markers in the distal region of 1q, with a maximum multipoint lod score of 6.37 at marker THH33 (D1S81). Nine USH1 families failed to show linkage to the same 3 markers. Lewis et al. (1990) performed linkage studies in 6 families with USH1 and 22 families with USH2. In the USH2 kindreds, linkage was found to DNA marker THH33 located on 1q; maximum lod score = 6.5 at 9 cM. Linkage to this marker was not found in the USH1 families. </p><p>At least 1 family studied by Pieke Dahl et al. (1991) failed to show linkage to 1q34-q41 markers, providing evidence that Usher syndrome type II is genetically heterogeneous. Smith et al. (1992) quoted Kimberling as estimating that 5 to 10% of USH2 families do not show linkage to this region of chromosome 1. By analysis of marker data on 68 Usher II families, Kimberling et al. (1995) placed the USH2A gene into a 2.1-cM region between the markers D1S237 and D1S229. The gene for transforming growth factor beta-2 (190220) and the gene for the homeodomain box HLX1 (142995) were eliminated as candidate genes by virtue of their localization outside these flanking markers. The earlier finding of genetic heterogeneity was confirmed in 6 new families, and the proportion of unlinked Usher II families was estimated to be 12.5%. </p><p>Pieke-Dahl et al. (1996) studied linkage to 1q41 markers in 29 Dutch families with clinical manifestations of Usher syndrome type 2. Linkage to 1q41 was shown in 26 families; therefore, 90% of these families have Usher syndrome type IIa. Three families showed no linkage to 1q41 markers; these families may have Usher syndrome type IIb. One of these families was also unlinked to 3q markers, excluding Usher syndrome type 3 (276902); the results in 2 other families were inconclusive for 3q markers. There were no significant associations between the USH2A gene and specific alleles from flanking loci. </p><p>Bessant et al. (1998) further refined the USH2A locus in 4 families. They defined AFM143XF10 as the new centromeric flanking marker and AFM144XF2 as the telomeric flanking marker of the USH2A locus. Bessant et al. (1998) noted that this region is completely contained in 3 YACs from the CEPH library: 867g9, 919h3, and 848b9. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>Among 96 patients with Usher syndrome type IIa, Eudy et al. (1998) identified 3 mutations in the USH2A gene (608400.0001-608400.0003), all of which resulted in frameshifts and premature terminations. A 2299delG mutation (608400.0001) was the most frequent mutant allele, occurring in 21 cases. </p><p>In a mutation search of 57 independent USH2A probands, Weston et al. (2000) identified 15 mutations in the USH2A gene. The 2299delG mutation was the most frequent mutant allele, observed in 31 of 192 alleles (16%). </p><p>In 12 unrelated patients with Usher syndrome, each with 1 mutation in exons 1 to 21 of the USH2A gene, van Wijk et al. (2004) identified a second pathogenic USH2A mutation in the 51 novel exons that they identified. The novel mutations included 3 different truncating mutations and 2 missense mutations (see, e.g., 608400.0007-608400.0009). The presence of pathogenic mutations in the novel exons indicated that at least 1 of the putative long isoforms of the USH2A protein plays a role in both hearing and vision. </p><p>Aller et al. (2006) identified mutations in the USH2A gene in 14 of 32 unrelated Spanish patients with Usher syndrome, nonsyndromic retinal degeneration, or nonsyndromic deafness in whom 2 disease-causing mutations could not be found after screening the first 21 exons of the USH2A gene. Analysis of the 51 new exons identified by van Wijk et al. (2004) and the 2 new exons identified by Adato et al. (2005) yielded 14 novel mutations, including 7 missense, 5 frameshift, 1 duplication, and 1 putative splice-site mutation. Most of the patients had previously been reported by Aller et al. (2004). All of the individuals with 2 mutations were clinically diagnosed with Usher syndrome type IIa. </p><p>To explore the spectrum of USH2A disease-causing mutations among Scandinavian USH2 cases, Dreyer et al. (2008) performed extensive DNA sequence analysis of the full-size USH2A gene in patients from 118 unrelated families, of which 27 had previously been found to carry mutations in exons 1 to 21. In all, 122 USH2A DNA sequence alterations were identified, of which 57 were predicted to be pathogenic, 7 were considered to be of uncertain pathogenicity, and 58 were predicted to be benign variants. Of 36 novel pathogenic USH2A mutations, 31 were located in exons 22 to 73, specific to the long isoform (see, e.g., 608400.0013). USH2A mutations were identified in 89 (75.4%) of 118 families. In 79 (88.8%) of these 89 families, 2 pathogenic mutations were identified, whereas in 10 families (11.2%) the second mutation remained unidentified. In 5 (4.2%) of the 118 families the USH phenotype could be explained by mutations in the CLRN1 gene (606397). </p><p>Yan et al. (2009) identified mutant USH2A alleles in 12 (60%) of 20 American patients of European ancestry with Usher syndrome type IIa. Seven (35%) patients had only 1 pathogenic mutation, and 8 patients did not have USH2A mutations. There were 5 novel mutations and 5 previously reported mutations, consisting of 3 missense, 3 frameshift, and 4 nonsense. The 2299delG mutation was the most common, accounting for 38.9% of mutant alleles. </p><p><strong><em>Genetic Heterogeneity of USH2</em></strong></p><p>
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In 31 French patients with USH2 who were not linked to the USH2A locus (608400), Besnard et al. (2012) analyzed the GPR98 and WHRN genes: 10 patients were found to have mutations in GPR98, and 2 had mutations in WHRN. Analysis of the PDZD7 gene was performed in the remaining 19 patients, but no deleterious mutations were detected. Subsequent reassessment of the phenotype in the 19 mutation-negative patients revealed that 12 had atypical audiologic and/or ophthalmologic impairment, and 2 had clinical features such as renal impairment or dysmorphism that indicated the possibility of another syndrome. Besnard et al. (2012) concluded that GPR98 mutations account for a small but significant proportion of mutations causing USH2 (6.4%), and that mutations in WHRN account for a very small proportion (1.3%). </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>To investigate genotype/phenotype correlations, Aller et al. (2004) screened 191 unrelated Spanish patients with syndromic or nonsyndromic retinal diseases, or with nonsyndromic hearing impairment, for the 2299delG (608400.0001) and C759F (608400.0006) mutations in the USH2A gene. They found that the 2299delG mutation was present in patients with clinical signs of Usher syndrome type II or of atypical Usher syndrome, whereas the C759F mutation, whether or not it was associated with the 2299delG mutation, was identified in cases with nonsyndromic retinitis pigmentosa. Aller et al. (2004) concluded that sensorineural hearing loss in patients with RP may depend on the nature and association of the USH2A allelic variants present. They recommended that patients with nonsyndromic RP and a USH2A mutation should be examined for auditory function. </p><p>In 3 sibs with USH2C (605472) 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. </p><p>Bernal et al. (2005) studied 28 Spanish patients with Usher syndrome type II, identifying 10 different pathogenic mutations and 17 polymorphisms in the USH2A gene. They observed discordant phenotypes in sib pairs from 2 unrelated families and noted that Liu et al. (1999) had reported clinical differences in monozygotic twins with Usher syndrome type II and had suggested that variation in the expression of the USH2A gene is not determined simply by genetic factors. </p><p>Ebermann et al. (2010) studied 2 French Canadian sisters with USH2A who were homozygous for the 4338delCT mutation in the USH2A gene (608400.0003), and in 1 of the sisters, who had earlier onset and more severe retinal disease, they identified an additional de novo heterozygous frameshift mutation in the PDZD7 gene (612971.0001). The PDZD7 mutation was not present in the other sister, who had a much milder retinal phenotype. Ebermann et al. (2010) concluded that PDZD7 is a retinal disease modifier in patients with USH2A. </p><p>Abadie et al. (2012) analyzed the audiologic findings in 100 USH2 patients, including 88 with USH2A mutations, 10 with GPR98 mutations, and 2 with WHRN 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%) patients 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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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Dreyer et al. (2001) presented data indicating that the widespread geographic distribution of the USH2A 2299delG mutation (608400.0001) is the result of an ancestral mutation that spread throughout Europe and into the New World as a result of migration. Various studies had reported a range of frequencies (from 0.16 to 0.44) among patients with Usher syndrome, depending on the geographic origin of the patients. Dreyer et al. (2001) performed haplotype analysis on DNA samples from 116 unrelated patients with Usher syndrome type IIa; the patients were from 14 countries and represented 148 2299delG alleles. On the basis of 6 single-nucleotide polymorphisms (SNPs) within the USH2A gene, 12 core haplotypes were observed in a panel of normal chromosomes. However, in their patient analysis, only 1 core haplotype was associated with the 2299delG mutation. </p><p>Ouyang et al. (2004) confirmed that 2299delG is the most common mutation in USH2A, accounting for 77.5% of pathologic alleles. In 5 of the 24 patients, the 2299delG mutation was present in homozygous state; in 3 it was present in compound heterozygous state with other mutations; and in 16 it was present in heterozygous state. </p><p>Ebermann et al. (2009) identified a homozygous USH2A mutation (4338delCT; 608400.0003) in 4 of 9 French Canadian families with Usher syndrome type IIa from Quebec and New Brunswick, the former Acadia. Affected individuals from 2 additional families carried the mutation in heterozygosity. Altogether, the 4338delCT mutation accounted for 10 (55.6%) of 18 disease alleles. Haplotype analysis indicated a founder effect. The findings indicated that the Acadian and Quebec populations share common ancestors. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hmani-Aifa et al. (2009) identified GPR98 mutations in the Usher II syndrome family previously mapped to the USH2B locus on chromosome 3p24.2-p23. They concluded that the USH2B locus does not exist and therefore withdrew the locus designation. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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Aller, E., Jaijo, T., Beneyto, M., Najera, C., Oltra, S., Ayuso, C., Baiget, M., Carballo, M., Antinolo, G., Valverde, D., Moreno, F., Vilela, C., Collado, D., Perez-Garrigues, H., Navea, A., Millan, J. M.
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Aller, E., Najera, C., Millan, J. M., Oltra, J. S., Perez-Garrigues, H., Vilela, C., Navea, A., Beneyto, M.
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Bernal, S., Meda, C., Solans, T., Ayuso, C., Garcia-Sandoval, B., Valverde, D., Del Rio, E., Baiget, M.
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Blanchet, P., Wellemeyer, M. L., Burton, G. V.
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Connor, W. E., Weleber, R. G., DeFrancesco, C., Lin, D. S., Wolf, D. P.
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Dreyer, B., Tranebjaerg, L., Brox, V., Rosenberg, T., Moller, C., Beneyto, M., Weston, M. D., Kimberling, W. J., Nilssen, O.
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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.
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Hmani-Aifa, M., Benzina, Z., Zulfiqar, F., Dhouib, H., Shahzadi, A., Ghorbel, A., Rebai, A., Soderkvist, P., Riazuddin, S., Kimberling, W. J., Ayadi, H.
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Kimberling, W. J., Weston, M. D., Moller, C., van Aarem, A., Cremers, C. W. R. J., Sumegi, J., Ing, P. S., Connolly, C., Martini, A., Milani, M., Tamayo, M. L., Bernal, J., Greenberg, J., Ayuso, C.
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