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Entry
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- #276900 - USHER SYNDROME, TYPE I; USH1
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- OMIM
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<p>
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<span class="h4">#276900</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/276900"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS276900"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#populationGenetics">Population Genetics</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="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=USHER SYNDROME, TYPE I" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19167&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Usher syndrome type 1 </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=662&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Usher syndrome </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1265/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7317" 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=276900[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231169" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Usher syndrome type 1</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Usher syndrome</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/6e94d1bf-f9fa-4338-afb8-3c8bb94c9661/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110826" 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/276900" 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/OMIA002148/" 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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<div><a href="https://wormbase.org/resources/disease/DOID:0110826" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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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 style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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</span>
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<div 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:276900" 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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<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>SNOMEDCT:</strong> 232057003<br />
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<strong>ORPHA:</strong> 231169, 886<br />
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<strong>DO:</strong> 0110826<br />
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">ICD+</a>
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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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276900
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</span>
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<a id="preferredTitle" class="mim-anchor"></a>
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<span class="mim-font">
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USHER SYNDROME, TYPE I; USH1
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
US1<br />
|
|
RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
USHER SYNDROME, TYPE IB, INCLUDED; USH1B, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
<div>
|
|
<span class="h4 mim-font">
|
|
|
|
USHER SYNDROME, TYPE IA, FORMERLY, INCLUDED; USH1A, FORMERLY, INCLUDED<br />
|
|
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
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</div>
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|
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<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
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/11/775?start=-3&limit=10&highlight=775">
|
|
11q13.5
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Usher syndrome, type 1B
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276900"> 276900 </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">
|
|
MYO7A
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276903"> 276903 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/276900" 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/276900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/276900" 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">
|
|
|
|
- Profound sensorineural hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/700454004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">700454004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848641&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848641</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br /> -
|
|
Absent vestibular function (caloric test) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848642&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848642</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008555" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008555</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 <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035334</a> 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> <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 /> -
|
|
Extinction of electroretinogram (before age 10) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848643</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000550</a>]</span><br /> -
|
|
Visual loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7973008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7973008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H54.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H54.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/369.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">369.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3665346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665346</a>, <a href="https://bioportal.bioontology.org/search?q=C3665386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665386</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000572" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000572</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000572" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000572</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Delayed motor development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
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|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Known as the 'French variety' of Usher syndrome since the majority of families are from Poitou-Charentes, France<br /> -
|
|
Genetic heterogeneity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br /> -
|
|
Usher syndrome type I (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci<br /> -
|
|
User syndrome type II (congenital moderate-severe deafness, normal vestibular dysfunction, and onset of retinitis pigmentosa in late second to early third decade) - 3 loci<br /> -
|
|
Usher syndrome type III (postlingual progressive deafness, variable vestibular dysfunction, and progressive retinitis pigmentosa with variable age of onset) - 1 locus<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 myosin VIIA gene (MYO7A, <a href="/entry/276903#0001">276903.0001</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">
|
|
|
|
|
|
|
|
|
|
|
|
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|
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Usher syndrome
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- <a href="/phenotypicSeries/PS276900">PS276900</a>
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- 20 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
|
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</thead>
|
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<tbody>
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|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
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|
|
|
<a href="/geneMap/1/1707?start=-3&limit=10&highlight=1707"> 1q41 </a>
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|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276901"> Usher syndrome, type 2A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
|
|
</span>
|
|
</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>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276902"> Usher syndrome, type 3A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276902"> 276902 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606397"> CLRN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606397"> 606397 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/322?start=-3&limit=10&highlight=322"> 5q14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> Usher syndrome, type 2C, GPR98/PDZD7 digenic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> 605472 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602851"> ADGRV1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602851"> 602851 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/322?start=-3&limit=10&highlight=322"> 5q14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> Usher syndrome, type 2C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> 605472 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602851"> ADGRV1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602851"> 602851 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/544?start=-3&limit=10&highlight=544"> 5q31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614504"> Usher syndrome type 3B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614504"> 614504 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142810"> HARS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142810"> 142810 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/443?start=-3&limit=10&highlight=443"> 9q32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611383"> Usher syndrome, type 2D </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611383"> 611383 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607928"> WHRN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607928"> 607928 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/144?start=-3&limit=10&highlight=144"> 10p11.21-q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614990"> Usher syndrome, type IK </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614990"> 614990 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614990"> USH1K </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614990"> 614990 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/209?start=-3&limit=10&highlight=209"> 10q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601067"> Usher syndrome, type 1D/F digenic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic recessive">DR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601067"> 601067 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605514"> PCDH15 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605514"> 605514 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/209?start=-3&limit=10&highlight=209"> 10q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602083"> Usher syndrome, type 1F </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602083"> 602083 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605514"> PCDH15 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605514"> 605514 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/281?start=-3&limit=10&highlight=281"> 10q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601067"> Usher syndrome, type 1D/F digenic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic recessive">DR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601067"> 601067 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605516"> CDH23 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605516"> 605516 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/281?start=-3&limit=10&highlight=281"> 10q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601067"> Usher syndrome, type 1D </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic recessive">DR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601067"> 601067 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605516"> CDH23 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605516"> 605516 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/491?start=-3&limit=10&highlight=491"> 10q24.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276901"> {Retinal disease in Usher syndrome type IIA, modifier of} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276901"> 276901 </a>
|
|
</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/612971"> PDZD7 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/612971"> 612971 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/10/491?start=-3&limit=10&highlight=491"> 10q24.31 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605472"> Usher syndrome, type IIC, GPR98/PDZD7 digenic </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605472"> 605472 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/612971"> PDZD7 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/612971"> 612971 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/11/210?start=-3&limit=10&highlight=210"> 11p15.1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/276904"> Usher syndrome, type 1C </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/276904"> 276904 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605242"> USH1C </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605242"> 605242 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/11/775?start=-3&limit=10&highlight=775"> 11q13.5 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/276900"> Usher syndrome, type 1B </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/276900"> 276900 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/276903"> MYO7A </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/276903"> 276903 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/15/252?start=-3&limit=10&highlight=252"> 15q22-q23 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/612632"> Usher syndrome, type 1H </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/612632"> 612632 </a>
|
|
</span>
|
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</td>
|
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<td>
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|
<span class="mim-font">
|
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<a href="/entry/612632"> USH1H </a>
|
|
</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/612632"> 612632 </a>
|
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/15/421?start=-3&limit=10&highlight=421"> 15q25.1 </a>
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|
|
</span>
|
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</td>
|
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<td>
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|
<span class="mim-font">
|
|
<a href="/entry/614869"> Usher syndrome, type IJ </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/614869"> 614869 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605564"> CIB2 </a>
|
|
</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605564"> 605564 </a>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<a href="/geneMap/17/879?start=-3&limit=10&highlight=879"> 17q24.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618144"> Usher syndrome, type IV </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/618144"> 618144 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610008"> ARSG </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/610008"> 610008 </a>
|
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</span>
|
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</td>
|
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/17/925?start=-3&limit=10&highlight=925"> 17q25.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<a href="/entry/606943"> Usher syndrome, type 1G </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
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</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/606943"> 606943 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/607696"> USH1G </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/607696"> 607696 </a>
|
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</span>
|
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</td>
|
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/geneMap/21/16?start=-3&limit=10&highlight=16"> 21q21 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602097"> Usher syndrome, type 1E </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">
|
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<a href="/entry/602097"> 602097 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/602097"> USH1E </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/602097"> 602097 </a>
|
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</span>
|
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</td>
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</tr>
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</tbody>
|
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</table>
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</div>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Usher syndrome type IB (USH1B) is caused by homozygous or compound heterozygous mutation in the MYO7A gene (<a href="/entry/276903">276903</a>) on chromosome 11q13.</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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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (<a href="/entry/276901">276901</a>) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (<a href="#42" class="mim-tip-reference" title="Moller, C. G., Kimberling, W. J., Davenport, S. L. H., Priluck, I., White, V., Biscone-Halterman, K., Odkvist, L. M., Brookhouser, P. E., Lund, G., Grissom, T. J. <strong>Usher syndrome: an otoneurologic study.</strong> Laryngoscope 99: 73-79, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909824</a>] [<a href="https://doi.org/10.1288/00005537-198901000-00014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2909824">Moller et al., 1989</a>). Patients with type III (USH3; <a href="/entry/276902">276902</a>) have progressive hearing loss. Patients with type IV (USH4; <a href="/entry/618144">618144</a>) have late onset of both retinitis pigmentosa and progressive, moderate to severe sensorineural hearing loss without vestibular involvement (<a href="#32" class="mim-tip-reference" title="Khateb, S., Kowalewski, B., Bedoni, N., Damme, M., Pollack, N., Saada, A., Obolensky, A., Ben-Yosef, T., Gross, M., Dierks, T., Banin, E., Rivolta, C., Sharon, D. <strong>A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.</strong> Genet. Med. 20: 1004-1012, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29300381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29300381</a>] [<a href="https://doi.org/10.1038/gim.2017.227" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29300381">Khateb et al., 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2909824+29300381" 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 I</em></strong></p><p>
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USH type I is genetically heterogeneous. USH1C (<a href="/entry/276904">276904</a>), the 'Acadian variety,' is caused by mutation in harmonin (<a href="/entry/605242">605242</a>), on 11p15. USH1D (<a href="/entry/601067">601067</a>) is caused by mutation in the cadherin-23 (CDH23; <a href="/entry/605516">605516</a>) on 10q21. USH1F (<a href="/entry/602083">602083</a>) is caused by mutation in the protocadherin-15 (PCDH15; <a href="/entry/605514">605514</a>) on 10q22. USH1G (<a href="/entry/606943">606943</a>) is caused by mutation in the SANS gene (<a href="/entry/607696">607696</a>), on 17q25. USH1E (<a href="/entry/602097">602097</a>) maps to 21q21, and USH1H (<a href="/entry/612632">612632</a>) maps to 15q22-q23. USH1J (<a href="/entry/614869">614869</a>) is caused by mutation in the CIB2 gene (<a href="/entry/605564">605564</a>) on 15q24. USH1K (<a href="/entry/614990">614990</a>) maps to chromosome 10p11.21-q21.1.</p><p>A form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see <a href="/entry/601067">601067</a>), thus supporting a digenic model for some individuals with this phenotype.</p><p><a href="#17" class="mim-tip-reference" title="Gerber, S., Bonneau, D., Gilbert, B., Munnich, A., Dufier, J.-L., Rozet, J.-M., Kaplan, J. <strong>USH1A: chronicle of a slow death. (Letter)</strong> Am. J. Hum. Genet. 78: 357-359, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16400615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16400615</a>] [<a href="https://doi.org/10.1086/500275" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16400615">Gerber et al. (2006)</a> presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16400615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Ahmed, Z. M., Riazuddin, S., Riazuddin, S., Wilcox, E. R. <strong>The molecular genetics of Usher syndrome.</strong> Clin. Genet. 63: 431-444, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12786748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12786748</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00109.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12786748">Ahmed et al. (2003)</a> reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12786748" 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>Usher syndrome, or more appropriately the Usher syndromes, are named for Charles <a href="#53" class="mim-tip-reference" title="Usher, C. H. <strong>On the inheritance of retinitis pigmentosa, with notes of cases.</strong> Roy. Lond. Ophthal. Hosp. Rep. 19: 130-236, 1914."None>Usher (1914)</a>, a British ophthalmologist who emphasized their hereditary nature. The earliest descriptions were given by <a href="#56" class="mim-tip-reference" title="Von Graefe, A. <strong>Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netzhaut.</strong> Graefes Arch. Ophthal. 4: 250-253, 1858."None>Von Graefe (1858)</a>, <a href="#39" class="mim-tip-reference" title="Liebreich, R. <strong>Abkunft aus Ehen unter Blutsverwandten als Grund von Retinitis pigmentosa.</strong> Dtsch. Klin. 13: 53 only, 1861."None>Liebreich (1861)</a>, who observed the syndrome among Jews in Berlin, and <a href="#24" class="mim-tip-reference" title="Hammerschlag, V. <strong>Zur Kenntnis der hereditaer-degenerativen Taubstummen und ihre differential-diagnostische Bedeutung.</strong> Z. Ohrenheilk. 54: 18-36, 1907."None>Hammerschlag (1907)</a>. <a href="#40" class="mim-tip-reference" title="Lindenov, H. <strong>The Etiology of Deaf-mutism with Special Reference to Heredity.</strong> Copenhagen: E. Munksgaard (pub.) 1945."None>Lindenov (1945)</a> wrote on deaf-mutism associated with retinitis pigmentosa and 'feeblemindedness.' <a href="#36" class="mim-tip-reference" title="Lang, H. A. <strong>Retinal degeneration and nerve deafness.</strong> Brit. Med. J. 2: 1096 only, 1959."None>Lang (1959)</a> observed 5 affected children out of 10 from a first-cousin marriage. <a href="#23" class="mim-tip-reference" title="Hallgren, B. <strong>Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: a clinical and genetico-statistical study.</strong> Acta Psychiat. Scand. Suppl. 34: 1-101, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14399116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14399116</a>]" pmid="14399116">Hallgren (1959)</a> found 177 affected persons in 102 families. In addition to the features noted in the title of his paper, cataract developed by age 40 in most. Mental deficiency and psychosis occurred in about one-quarter of cases. A large majority had a disturbance of gait attributed to a lesion of the labyrinth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14399116" 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 Finland, <a href="#43" class="mim-tip-reference" title="Nuutila, A. <strong>Dystrophia retinae pigmentosa-dysacusis syndrome (DRD): a study of the Usher or Hallgren syndrome.</strong> J. Genet. Hum. 18: 57-88, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5516287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5516287</a>]" pmid="5516287">Nuutila (1970)</a> found 133 persons with retinitis pigmentosa and congenital sensory deafness, 4 with RP and progressive sensory deafness. Numerous studies suggest genetic heterogeneity of this phenotype. On the basis of 133 patients in Finland, <a href="#16" class="mim-tip-reference" title="Forsius, H., Eriksson, A., Nuutila, A., Vainio-Mattila, B., Krause, U. <strong>A genetic study of three rare retinal disorders: dystrophia retinae dysacusis syndrome, X-chromosomal retinoschisis and grouped pigments of the retina.</strong> Birth Defects Orig. Art. Ser. 7(3): 83-98, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5173151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5173151</a>]" pmid="5173151">Forsius et al. (1971)</a> concluded that there are 2 distinct forms of the Usher syndrome: one characterized by congenital deafness and severe retinitis pigmentosa, and a second less frequent form in which the inner ear and retina are less severely affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5516287+5173151" 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="Holland, M. G., Cambie, E., Kloepfer, W. <strong>An evaluation of genetic carriers of Usher's syndrome.</strong> Am. J. Ophthal. 74: 940-947, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4539460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4539460</a>] [<a href="https://doi.org/10.1016/0002-9394(72)91215-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4539460">Holland et al. (1972)</a> found gyrate atrophy in a few heterozygotes. <a href="#12" class="mim-tip-reference" title="Davenport, S. L. H., O'Nuallain, S., Omenn, G. S., Wilkus, R. J. <strong>Usher syndrome in four hard-of-hearing siblings.</strong> Pediatrics 62: 578-583, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/714590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">714590</a>]" pmid="714590">Davenport et al. (1978)</a> found that about 90% of reported cases had profound congenital deafness with onset of RP before puberty, whereas the rest had moderate to severe hearing loss from birth and RP beginning after puberty. Ataxia, probably labyrinthine in origin, occurred in a great majority of the first type and in a few of the second. The possibility of an X-linked form was suggested by 2 pairs of affected brothers whose mothers were sisters. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=714590+4539460" 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="#19" class="mim-tip-reference" title="Gorlin, R. J., Tilsner, T. J., Feinstein, S., Duvall, A. J. <strong>Usher's syndrome type III.</strong> Arch. Otolaryng. 105: 353-354, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/454290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">454290</a>] [<a href="https://doi.org/10.1001/archotol.1979.00790180051011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="454290">Gorlin et al. (1979)</a> summarized the classification of <a href="#13" class="mim-tip-reference" title="Davenport, S. L. H., Omenn, G. S. <strong>The heterogeneity of Usher syndrome. (Abstract)</strong> Vth International Conference on Birth Defects, Montreal, August 1977."None>Davenport and Omenn (1977)</a> as follows: type I--profound congenital deafness with onset of RP by age 10; type II--moderate to severe congenital deafness with onset of RP in late teens (<a href="/entry/276901">276901</a>); type III--RP first noted at puberty with progressive hearing loss; type IV--possible X-linked form. The fourth type was based on the observation of 4 affected brothers reported by <a href="#12" class="mim-tip-reference" title="Davenport, S. L. H., O'Nuallain, S., Omenn, G. S., Wilkus, R. J. <strong>Usher syndrome in four hard-of-hearing siblings.</strong> Pediatrics 62: 578-583, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/714590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">714590</a>]" pmid="714590">Davenport et al. (1978)</a>. In fact, autosomal recessive inheritance was considered most likely; the heterozygous parents showed unilateral high-frequency hearing loss with normal retinal and vestibular function. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=714590+454290" 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="#27" class="mim-tip-reference" title="Jay, M. <strong>Figures and fantasies: the frequencies of the different genetic forms of retinitis pigmentosa.</strong> Birth Defects Orig. Art. Ser. 18(6): 167-173, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7171752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7171752</a>]" pmid="7171752">Jay (1982)</a> found 16 Usher syndrome families out of 571 RP families in the experience of the Moorfields Eye Hospital in London. Other numbers were: autosomal dominant, 130 families; X-linked, 27; autosomal recessive, 5; male multiplex, 24; mixed multiplex, 76; simplex, 292 and adopted, 1. In 4 of 10 sibs, <a href="#31" class="mim-tip-reference" title="Karjalainen, S., Terasvirta, M., Karja, J., Kaariainen, H. <strong>An unusual otological manifestation of Usher's syndrome in four siblings.</strong> Clin. Genet. 24: 273-279, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6641004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6641004</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1983.tb00082.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6641004">Karjalainen et al. (1983)</a> described an unusual form of Usher syndrome. In 2, hearing loss developed in school age; in the other 2, it developed in the thirties. In 1, retinitis pigmentosa was diagnosed before hearing impairment was evident. In a study of 70 patients, <a href="#15" class="mim-tip-reference" title="Fishman, G. A., Kumar, A., Joseph, M. E., Torok, N., Anderson, R. J. <strong>Usher's syndrome: ophthalmic and neuro-otologic findings suggesting genetic heterogeneity.</strong> Arch. Ophthal. 101: 1367-1374, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6604514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6604514</a>] [<a href="https://doi.org/10.1001/archopht.1983.01040020369005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6604514">Fishman et al. (1983)</a> also suggested the existence of 2 distinct types of Usher syndrome. In their experience, the deafness is congenital and nonprogressive, whereas the retinitis pigmentosa is progressive. In their type I, onset of night blindness was earlier, visual field loss occurred earlier and in greater severity, hearing impairment was more severe, speech was more likely to be unintelligible, vestibular reflexes and clinically evident ataxia were more frequently found--all as contrasted with type II. Of the 70 patients, 46 were type II. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6604514+7171752+6641004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Boughman, J. A., Vernon, M., Shaver, K. A. <strong>Usher syndrome: definition and estimate of prevalence from two high-risk populations.</strong> J. Chronic Dis. 36: 595-603, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6885960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6885960</a>] [<a href="https://doi.org/10.1016/0021-9681(83)90147-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6885960">Boughman et al. (1983)</a> reviewed information on 600 cases of deaf-blindness in the registry of the Helen Keller National Center for Deaf Blind Youths and Adults. Of these, 54% satisfied criteria for the diagnosis of Usher syndrome, although only 23.8% had been so diagnosed. From the Louisiana School for the Deaf, they ascertained 30 males and 18 females in 26 nuclear families, reflecting the recognized high frequency in the Louisiana Acadian population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6885960" 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="#20" class="mim-tip-reference" title="Grondahl, J., Mjoen, S. <strong>Usher syndrome in four Norwegian counties.</strong> Clin. Genet. 30: 14-28, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3757293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3757293</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1986.tb00564.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3757293">Grondahl and Mjoen (1986)</a> found 18 cases of Usher syndrome among 89 probands selected for tapetoretinal degeneration. Among the relatives, another 10 cases of Usher syndrome were found. These fell into the 3 types as follows: type I, 14 cases; type II, 10 cases; type III (according to Davenport and Omenn (1977)), 4 cases. In 12 families the pattern of inheritance was autosomal recessive; the remaining 6 probands were solitary cases without parental consanguinity. There was a high intrafamilial correlation with respect to hearing function. Vestibular response was abolished in 3 patients with type I and was normal in 3 patients with type II and in 1 patient with type III. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3757293" 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 Norway, <a href="#21" class="mim-tip-reference" title="Grondahl, J. <strong>Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway.</strong> Clin. Genet. 31: 255-264, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3594933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3594933</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1987.tb02804.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3594933">Grondahl (1987)</a> found 28 patients from 18 families with Usher syndrome. Both retinitis pigmentosa and Usher syndrome were more prevalent in Lapps than in other Norwegians. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3594933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Davenport, S. L. H., Moller, C., Biscone-Halterman, K., Kimberling, W. J. <strong>Early diagnosis of Usher syndrome. (Abstract)</strong> Am. J. Hum. Genet. 43: A45 only, 1988."None>Davenport et al. (1988)</a> recognized 2 main types and a third rare type. Type I not only has congenital profound deafness and early onset of RP, but also congenitally absent vestibular function. Their type II has hearing loss which is congenital and of high frequency type, with little deterioration and with later onset of RP and normal vestibular function. In type III both hearing and vision start out normal or near-normal and progressively deteriorate over several decades. Type I children, because of the vestibular defect, have delayed motor milestones and clumsiness. Type II children are usually 'mainstreamed' with no problems until teen age.</p><p><a href="#49" class="mim-tip-reference" title="Smith, R. J. H., Berlin, C. I., Hejtmancik, J. F., Keats, B. J. B., Kimberling, W. J., Lewis, R. A., Moller, C. G., Pelias, M. Z., Tranebjaerg, L. <strong>Clinical diagnosis of the Usher syndromes.</strong> Am. J. Med. Genet. 50: 32-38, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8160750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8160750</a>] [<a href="https://doi.org/10.1002/ajmg.1320500107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8160750">Smith et al. (1994)</a> described criteria for the clinical diagnosis of Usher syndrome, adopted by the Usher Syndrome Consortium. They pointed out that there was evidence for at least 3 distinct USH1 loci (USH1A, USH1B, USH1C) and 2 distinct USH2 loci. They pointed to the need to exclude congenital infections, such as rubella, syphilis, and cytomegalovirus, and problems associated with gestation, delivery, or the perinatal period that also can cause profound hearing loss and retinal damage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8160750" 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>Photoreceptors, auditory hair cells, and vestibular hair cells develop from ciliated progenitors. Several lines of evidence suggest that a generalized abnormality of axoneme structure is present in patients with Usher syndrome. <a href="#26" class="mim-tip-reference" title="Hunter, D. G., Fishman, G. A., Mehta, R. S., Kretzer, F. L. <strong>Abnormal sperm and photoreceptor axonemes in Usher's syndrome.</strong> Arch. Ophthal. 104: 385-389, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3954639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3954639</a>] [<a href="https://doi.org/10.1001/archopht.1986.01050150085033" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3954639">Hunter et al. (1986)</a> found a high proportion of abnormal axonemes in retinal photoreceptor cells of a patient with Usher syndrome. <a href="#48" class="mim-tip-reference" title="Shinkawa, H., Nadol, J. B., Jr. <strong>Histopathology of the inner ear in Usher's syndrome as observed by light and electron microscopy.</strong> Ann. Otol. Rhinol. Laryng. 95: 313-318, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3717858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3717858</a>] [<a href="https://doi.org/10.1177/000348948609500321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3717858">Shinkawa and Nadol (1986)</a> found a decrease in outer ciliary cells in the lower part of the cochlea in this syndrome. Structural and functional evidence for abnormal nasal cilia has been found in this disorder as in other patients with retinitis pigmentosa (<a href="#5" class="mim-tip-reference" title="Arden, G. B., Fox, B. <strong>Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa.</strong> Nature 279: 534-536, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/450098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">450098</a>] [<a href="https://doi.org/10.1038/279534a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="450098">Arden and Fox, 1979</a>). Finally, sperm motility, velocity, and structure have been found abnormal in Usher syndrome, a feature probably related to the markedly decreased fertility of these patients (<a href="#26" class="mim-tip-reference" title="Hunter, D. G., Fishman, G. A., Mehta, R. S., Kretzer, F. L. <strong>Abnormal sperm and photoreceptor axonemes in Usher's syndrome.</strong> Arch. Ophthal. 104: 385-389, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3954639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3954639</a>] [<a href="https://doi.org/10.1001/archopht.1986.01050150085033" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3954639">Hunter et al., 1986</a>; <a href="#43" class="mim-tip-reference" title="Nuutila, A. <strong>Dystrophia retinae pigmentosa-dysacusis syndrome (DRD): a study of the Usher or Hallgren syndrome.</strong> J. Genet. Hum. 18: 57-88, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5516287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5516287</a>]" pmid="5516287">Nuutila, 1970</a>). <a href="#10" class="mim-tip-reference" title="Brueckner, M., D'Eustachio, P., Horwich, A. L. <strong>Linkage mapping of a mouse gene, 'iv,' that controls left-right asymmetry of the heart and viscera.</strong> Proc. Nat. Acad. Sci. 86: 5035-5038, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2740340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2740340</a>] [<a href="https://doi.org/10.1073/pnas.86.13.5035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2740340">Brueckner et al. (1989)</a> found that the iv (inversus viscerum; see <a href="/entry/603339">603339</a>) mutation in the mouse maps to a corresponding region; this mouse mutation may be homologous to Kartagener syndrome (<a href="/entry/244400">244400</a>). <a href="#35" class="mim-tip-reference" title="Lake, K., Sharma, O. P. <strong>Kartagener's syndrome and deaf-mutism: an unusual association.</strong> Chest 64: 661-663, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4543013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4543013</a>] [<a href="https://doi.org/10.1378/chest.64.5.661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4543013">Lake and Sharma (1973)</a> reported the association of Kartagener syndrome with retinitis pigmentosa and congenital deafness. <a href="#8" class="mim-tip-reference" title="Bonneau, D., Raymond, F., Kremer, C., Klossek, J.-M., Kaplan, J., Patte, F. <strong>Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers.</strong> J. Med. Genet. 30: 253-254, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8474110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8474110</a>] [<a href="https://doi.org/10.1136/jmg.30.3.253" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8474110">Bonneau et al. (1993)</a> reported the association of type I Usher syndrome with bronchiectasis, chronic sinusitis, and reduced nasal mucociliary clearance in 2 brothers and suggested that USH1 could be a primary ciliary disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4543013+5516287+3954639+2740340+3717858+8474110+450098" 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="#47" class="mim-tip-reference" title="Schaefer, G. B., Bodensteiner, J. B., Thompson, J. N., Jr., Kimberling, W. J., Craft, J. M. <strong>Volumetric neuroimaging in Usher syndrome: evidence of global involvement.</strong> Am. J. Med. Genet. 79: 1-4, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9738858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9738858</a>]" pmid="9738858">Schaefer et al. (1998)</a> performed quantitative analysis of magnetic resonance imaging studies of 19 patients with Usher syndrome (8 with type I, 11 with type II). They found a significant decrease in intracranial volume and in size of the brain and cerebellum with a trend toward an increase in the size of the subarachnoid spaces. These data suggested that the disease process in Usher syndrome involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9738858" 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="#41" 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. In 3 of the patients with Usher type I, multifocal electroretinography (mfERG) demonstrated a specific pattern with a sharp distinction between the area of reduced function and the central area with remaining macular function and normal peak time. 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>Usher syndrome is inherited in an autosomal recessive manner. In an extensive genetic study of 9 Usher syndrome genes in 172 patients with Usher syndrome due to various genetic defects, <a href="#38" class="mim-tip-reference" title="Le Quesne Stabej, P., Saihan, Z., Rangesh, N., Steele-Stallard, H. B., Ambrose, J., Coffey, A., Emmerson, J., Haralambous, E., Hughes, Y., Steel, K. P., Luxon, L. M., Webster, A. R., Bitner-Glindzicz, M. <strong>Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.</strong> J. Med. Genet. 49: 27-36, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22135276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22135276</a>] [<a href="https://doi.org/10.1136/jmedgenet-2011-100468" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22135276">Le Quesne Stabej et al. (2012)</a> found no evidence for digenic inheritance. Mutations in the MYO7A gene were the most common, accounting for 53.2% of families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22135276" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The frequency of Usher syndrome was estimated to be 3.0/100,000 in Scandinavia (<a href="#23" class="mim-tip-reference" title="Hallgren, B. <strong>Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: a clinical and genetico-statistical study.</strong> Acta Psychiat. Scand. Suppl. 34: 1-101, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14399116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14399116</a>]" pmid="14399116">Hallgren, 1959</a>) and 4.4/100,000 in the United States (<a href="#9" class="mim-tip-reference" title="Boughman, J. A., Vernon, M., Shaver, K. A. <strong>Usher syndrome: definition and estimate of prevalence from two high-risk populations.</strong> J. Chronic Dis. 36: 595-603, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6885960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6885960</a>] [<a href="https://doi.org/10.1016/0021-9681(83)90147-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6885960">Boughman et al., 1983</a>). <a href="#21" class="mim-tip-reference" title="Grondahl, J. <strong>Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway.</strong> Clin. Genet. 31: 255-264, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3594933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3594933</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1987.tb02804.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3594933">Grondahl (1987)</a> calculated the prevalence of Usher syndrome in Norway to be 3.6 in 100,000. In Colombia, <a href="#52" class="mim-tip-reference" title="Tamayo, M. L., Bernal, J. E., Tamayo, G. E., Frias, J. L., Alvira, G., Vergara, O., Rodriguez, V., Uribe, J. I., Silva, J. C. <strong>Usher syndrome: results of a screening program in Colombia.</strong> Clin. Genet. 40: 304-311, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1756603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1756603</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1991.tb03100.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1756603">Tamayo et al. (1991)</a> found that about 70% of the Usher syndrome cases were type I, about 26% type II, and 4% type III. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1756603+14399116+3594933+6885960" 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="#58" class="mim-tip-reference" title="Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M., Petit, C. <strong>Defective myosin VIIA gene responsible for Usher syndrome type 1B.</strong> Nature 374: 60-61, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7870171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7870171</a>] [<a href="https://doi.org/10.1038/374060a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7870171">Weil et al. (1995)</a> stated that USH1B accounts for about 75% of type I Usher syndrome patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7870171" 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 6 (42.86%) of 14 indigenous South African probands with USH, <a href="#45" class="mim-tip-reference" title="Roberts, L., George, S., Greenberg, J., Ramesar, R. S. <strong>A founder mutation in MYO7A underlies a significant proportion of Usher syndrome in indigenous South Africans: implications for the African diaspora.</strong> Invest. Ophthal. Vis. Sci. 56: 6671-6678, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26469752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26469752</a>] [<a href="https://doi.org/10.1167/iovs.15-17028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26469752">Roberts et al. (2015)</a> identified a homozygous mutation (c.6377delC) in the MYO7A gene. All 6 shared a common haplotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26469752" 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="#33" class="mim-tip-reference" title="Kimberling, W. J., Moller, C. G., Davenport, S., Priluck, I. A., Beighton, P. H., Greenberg, J., Reardon, W., Weston, M. D., Kenyon, J. B., Grunkemeyer, J. A., Pieke Dahl, S., Overbeck, L. D., Blackwood, D. J., Brower, A. M., Hoover, D. M., Rowland, P., Smith, R. J. H. <strong>Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.</strong> Genomics 14: 988-994, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1478677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1478677</a>] [<a href="https://doi.org/10.1016/s0888-7543(05)80121-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1478677">Kimberling et al. (1992)</a> mapped a form of Usher syndrome to 11q, probably distal to marker D11S527. Their study was based on 27 families from the United States, Sweden, Ireland, and South Africa. There were no families from either the Louisiana Acadian population or the Poitou-Charentes region of France. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1478677" 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="#51" 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> investigated 11 British USH1 families and confirmed linkage to D11S527 at 11q. The locus for Best disease (<a href="/entry/153700">153700</a>) also maps to 11q3. In an extensive Samaritan kindred in Israel, <a href="#7" class="mim-tip-reference" title="Bonne-Tamir, B., Korostishevsky, M., Kalinsky, H., Seroussi, E., Beker, R., Weiss, S., Godel, V. <strong>Genetic mapping of the gene for Usher syndrome: linkage analysis in a large Samaritan kindred.</strong> Genomics 20: 36-42, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8020954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8020954</a>] [<a href="https://doi.org/10.1006/geno.1994.1124" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8020954">Bonne-Tamir et al. (1994)</a> demonstrated linkage of the Usher syndrome phenotype to markers on 11q. Complete linkage disequilibrium between D11S533 and the Usher gene suggested that these loci are either identical or adjacent. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1478678+8020954" 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="#57" class="mim-tip-reference" title="Wagenaar, M., ter Rahe, B., van Aarem, A., Huygen, P., Admiraal, R., Bleeker-Wagemakers, E., Pinckers, A., Kimberling, W., Cremers, C. <strong>Clinical findings in obligate carriers of type I Usher syndrome.</strong> Am. J. Med. Genet. 59: 375-379, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8599365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8599365</a>] [<a href="https://doi.org/10.1002/ajmg.1320590319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8599365">Wagenaar et al. (1995)</a> studied 17 obligate carriers from 9 families with autosomal recessive Usher syndrome type I. Linkage studies showed linkage to 11q13.5 in 6 families, while 3 families failed to show linkage to candidate regions. Eight obligate carriers had an abnormal pure-tone audiogram. Four carriers had significant sensorineural hearing loss which increased at higher frequencies. The other 13 carriers had sensorineural hearing loss of about 10 dB at 0.25 and 0.5 kHz, but less at higher frequencies. Electrooculography demonstrated a significantly lower mean light peak/dark trough ratio in carriers than in controls. The methods were, however, not sufficiently specific to identify carriers with confidence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8599365" 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="#58" class="mim-tip-reference" title="Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M., Petit, C. <strong>Defective myosin VIIA gene responsible for Usher syndrome type 1B.</strong> Nature 374: 60-61, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7870171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7870171</a>] [<a href="https://doi.org/10.1038/374060a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7870171">Weil et al. (1995)</a> demonstrated that mutation in the gene encoding myosin VIIA is responsible for Usher syndrome type IB. Two different premature stop codons, a 6-bp deletion, and 2 missense mutations were detected in 5 unrelated families (see, e.g., <a href="/entry/276903#0001">276903.0001</a>-<a href="/entry/276903#0005">276903.0005</a>). In 1 of these families, the mutations were identified in both alleles. These mutations, which are located at the amino-terminal end of the motor domain of the protein, are likely to result in the absence of a functional protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7870171" 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="#61" class="mim-tip-reference" title="Zina, Z. B., Masmoudi, S., Ayadi, H., Chaker, F., Ghorbel, A. M., Drira, M., Petit, C. <strong>From DFNB2 to Usher syndrome: variable expressivity of the same disease. (Letter)</strong> Am. J. Med. Genet. 101: 181-183, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11391666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11391666</a>] [<a href="https://doi.org/10.1002/ajmg.1335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11391666">Zina et al. (2001)</a> reevaluated a large consanguineous family from Tunisia, originally reported by <a href="#22" class="mim-tip-reference" title="Guilford, P., Ayadi, H., Blanchard, S., Chaib, H., Le Paslier, D., Weissenbach, J., Drira, M., Petit, C. <strong>A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.</strong> Hum. Molec. Genet. 3: 989-993, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951250</a>] [<a href="https://doi.org/10.1093/hmg/3.6.989" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7951250">Guilford et al. (1994)</a> to have autosomal recessive sensorineural deafness (<a href="/entry/600060">600060</a>) and in which <a href="#59" class="mim-tip-reference" title="Weil, D., Kussel, P., Blanchard, S., Levy, G., Levi-Acobas, F., Drira, M., Ayadi, H., Petit, C. <strong>The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.</strong> Nature Genet. 16: 191-193, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9171833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9171833</a>] [<a href="https://doi.org/10.1038/ng0697-191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9171833">Weil et al. (1997)</a> identified homozygosity for a missense mutation in the MYO7A gene (<a href="/entry/276903#0010">276903.0010</a>). Since the original reports, 5 patients had developed mild retinal degeneration in addition to the progressive deafness. Fundus examination of 1 patient showed spicule pigmentary changes consistent with retinal dystrophy. Another previously unaffected family member, homozygous for the mutation, had retinitis pigmentosa. Seven patients had abnormal vestibular function as assessed by caloric tests. <a href="#61" class="mim-tip-reference" title="Zina, Z. B., Masmoudi, S., Ayadi, H., Chaker, F., Ghorbel, A. M., Drira, M., Petit, C. <strong>From DFNB2 to Usher syndrome: variable expressivity of the same disease. (Letter)</strong> Am. J. Med. Genet. 101: 181-183, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11391666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11391666</a>] [<a href="https://doi.org/10.1002/ajmg.1335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11391666">Zina et al. (2001)</a> concluded that some patients in this Tunisian family had features consistent with Usher syndrome type IB, and suggested that other factors must modulate the expression of the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7951250+9171833+11391666" 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="Adato, A., Kalinski, H., Weil, D., Chaib, H., Korostishevsky, M., Bonne-Tamir, B. <strong>Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. (Letter)</strong> Am. J. Hum. Genet. 65: 261-265, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364543</a>] [<a href="https://doi.org/10.1086/302438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364543">Adato et al. (1999)</a> described a complex rearrangement of the MYO7A gene that might have a synergistic effect on the symptoms of another type of Usher syndrome, namely USH3 (<a href="/entry/276902">276902</a>), the rarest form of USH. <a href="#3" class="mim-tip-reference" title="Adato, A., Weil, D., Kalinski, H., Pel-Or, Y., Ayadi, H., Petit, C., Korostishevsky, M., Bonne-Tamir, B. <strong>Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.</strong> Am. J. Hum. Genet. 61: 813-821, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382091</a>] [<a href="https://doi.org/10.1086/514899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382091">Adato et al. (1997)</a> reported a nonconsanguineous family of Jewish Yemenite origin with 2 affected and 6 healthy sibs, in which the 2 affected brothers had different USH phenotypes: one had a typical USH1 phenotype, whereas the other had a typical USH3 phenotype. Both affected brothers had onset of bilateral progressive pigmentary retinopathy during early adolescence. <a href="#1" class="mim-tip-reference" title="Adato, A., Kalinski, H., Weil, D., Chaib, H., Korostishevsky, M., Bonne-Tamir, B. <strong>Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. (Letter)</strong> Am. J. Hum. Genet. 65: 261-265, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364543</a>] [<a href="https://doi.org/10.1086/302438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364543">Adato et al. (1999)</a> performed haplotype segregation and linkage analysis in this family that resulted in exclusion of all USH1 and USH2 loci and suggested linkage only to the USH3 locus on chromosome 3q21; both affected brothers were homozygous for alleles of 4 markers on 3q. Since one of the affected brothers had a USH1 phenotype, family members were screened for mutations in the MYO7A gene, and 2 novel, closely situated nucleotide changes were detected in exon 25 of the MYO7A gene on 1 maternal chromosome: a T-to-C transition and a guanine deletion 5 nucleotides upstream of this transition (<a href="/entry/276903#0014">276903.0014</a>). The mutated MYO7A gene was carried by the brother with the more severe USH1 phenotype, but not by his affected brother with the USH3 phenotype. The mother and 2 unaffected sibs, who were all double heterozygotes for the mutated MYO7A and for a single USH3 haplotype, showed no evidence of any Usher symptoms or nonsyndromic deafness. This suggested a digenic inheritance pattern, with a possible synergistic interaction between MYO7A and the USH3 gene product, where presence of a single defective MYO7A allele seemed to increase the severity of deafness as a part of the clinical symptoms associated with USH3. <a href="#2" class="mim-tip-reference" title="Adato, A., Vreugde, S., Joensuu, T., Avidan, N., Hamalainen, R., Belenkiy, O., Olender, T., Bonne-Tamir, B., Ben-Asher, E., Espinos, C., Millan, J. M., Lehesjoki, A.-E., Flannery, J. G., Avraham, K. B., Pietrovski, S., Sankila, E.-M., Beckmann, J. S., Lancet, D. <strong>USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.</strong> Europ. J. Hum. Genet. 10: 339-350, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12080385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12080385</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200831" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12080385">Adato et al. (2002)</a> restudied the Jewish Yemenite family originally reported by <a href="#3" class="mim-tip-reference" title="Adato, A., Weil, D., Kalinski, H., Pel-Or, Y., Ayadi, H., Petit, C., Korostishevsky, M., Bonne-Tamir, B. <strong>Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.</strong> Am. J. Hum. Genet. 61: 813-821, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382091</a>] [<a href="https://doi.org/10.1086/514899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382091">Adato et al. (1997)</a> and identified homozygosity for a 23-bp deletion in the CLRN1 gene (<a href="/entry/606397#0007">606397.0007</a>) in the affected brothers. The authors stated that this represented a departure from the monogenic model for Usher syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10364543+12080385+9382091" 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 4-year follow-up of their diagnostic service in France for patients with Usher syndrome type I, which included preliminary haplotyping before gene sequencing, <a href="#46" class="mim-tip-reference" title="Roux, A.-F., Faugere, V., Vache, C., Baux, D., Besnard, T., Leonard, S., Blanchet, C., Hamel, C., Mondain, M., Gilbert-Dussardier, B., Edery, P., Lacombe, D., Bonneau, D., Holder-Espinasse, M., Ambrosetti, U., Journel, H., David, A., Lina-Granade, G., Malcolm, S., Claustres, M. <strong>Four-year follow-up of diagnostic service in USH1 patients.</strong> Invest. Ophthal. Vis. Sci. 52: 4063-4071, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21436283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21436283</a>] [<a href="https://doi.org/10.1167/iovs.10-6869" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21436283">Roux et al. (2011)</a> stated that they had identified the pathogenic genotype in over 90% of patients. Of the mutations identified, 32% were novel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21436283" 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><strong><em>Usher Syndrome Type IA</em></strong></p><p>
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In an intriguing 'chronicle of a slow death,' <a href="#17" class="mim-tip-reference" title="Gerber, S., Bonneau, D., Gilbert, B., Munnich, A., Dufier, J.-L., Rozet, J.-M., Kaplan, J. <strong>USH1A: chronicle of a slow death. (Letter)</strong> Am. J. Hum. Genet. 78: 357-359, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16400615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16400615</a>] [<a href="https://doi.org/10.1086/500275" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16400615">Gerber et al. (2006)</a> concluded that the presumed USH1A locus on 14q32 does not exist. The USH1A locus was described by <a href="#29" class="mim-tip-reference" title="Kaplan, J., Gerber, S., Bonneau, D., Rozet, J. M., Delrieu, O., Briard, M. L., Dollfus, H., Ghazi, I., Dufier, J. L., Frezal, J., Munnich, A. <strong>A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.</strong> Genomics 14: 979-987, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1478676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1478676</a>] [<a href="https://doi.org/10.1016/s0888-7543(05)80120-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1478676">Kaplan et al. (1992)</a> and <a href="#37" class="mim-tip-reference" title="Larget-Piet, D., Gerber, S., Bonneau, D., Rozet, J.-M., Marc, S., Ghazi, I., Dufier, J.-L., David, A., Bitoun, P., Weissenbach, J., Munnich, A., Kaplan, J. <strong>Genetic heterogeneity of Usher syndrome type 1 in French families.</strong> Genomics 21: 138-143, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8088781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8088781</a>] [<a href="https://doi.org/10.1006/geno.1994.1235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8088781">Larget-Piet et al. (1994)</a> on the basis of linkage studies in 9 families originating from the Poitou-Charentes region, around the town of Bressuire in France. This form of Usher syndrome was also referred to as the French variety. No disease-associated alteration was found in any candidate gene candidate gene at the USH1A locus. Results of studies of a new multiplex family with Usher syndrome type 1 originating from the Bressuire region surprisingly showed exclusion of linkage to chromosome 14 but were compatible with linkage to the USH1B locus on 11q. Furthermore, <a href="#17" class="mim-tip-reference" title="Gerber, S., Bonneau, D., Gilbert, B., Munnich, A., Dufier, J.-L., Rozet, J.-M., Kaplan, J. <strong>USH1A: chronicle of a slow death. (Letter)</strong> Am. J. Hum. Genet. 78: 357-359, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16400615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16400615</a>] [<a href="https://doi.org/10.1086/500275" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16400615">Gerber et al. (2006)</a> had an opportunity to study a healthy individual in 1 of the 8 original USH1A families who was unavailable for study in 1992; this individual turned out to be haploidentical to his affected sibs, which strongly challenged the existence of the USHA1 locus. These 2 unexpected data prompted a screening for mutations in the major USH1 gene myosin VIIA (MYO7A; <a href="/entry/276903">276903</a>) in the Bressuire families. The results of this study 'signed the death warrant of the USH1A locus,' since mutations were identified in 6 of the 9 original families. Of these and the 1 additional family, 7 harbored mutations in the MYO7A gene, 1 was compatible with linkage to USH1D and USH1E loci, and 1 excluded all USH1 loci including the 14q32.1 region. No DNA was available for further linkage studies in the last family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1478676+8088781+16400615" 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 the reevaluation, Kaplan and her colleagues (<a href="#17" class="mim-tip-reference" title="Gerber, S., Bonneau, D., Gilbert, B., Munnich, A., Dufier, J.-L., Rozet, J.-M., Kaplan, J. <strong>USH1A: chronicle of a slow death. (Letter)</strong> Am. J. Hum. Genet. 78: 357-359, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16400615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16400615</a>] [<a href="https://doi.org/10.1086/500275" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16400615">Gerber et al., 2006</a>) suggested that they should not have made the hypothesis of a founder effect in the original study without evidence for linkage disequilibrium. Indeed most of the patients of Bressuire harbored different MYO7A mutations. A parallel was drawn to the case in the isolated Newfoundland population where a high incidence of Bardet-Biedl syndrome (<a href="/entry/209900">209900</a>) exists. The genetic study of 17 BBS kindreds hailing from this region showed that at least 4 loci might account for the disease (<a href="#60" class="mim-tip-reference" title="Woods, M. O., Young, T.-L., Parfrey, P. S., Hefferton, D., Green, J. S., Davidson, W. S. <strong>Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus.</strong> Genomics 55: 2-9, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9888993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9888993</a>] [<a href="https://doi.org/10.1006/geno.1998.5626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9888993">Woods et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9888993+16400615" 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="#18" class="mim-tip-reference" title="Gerber, S., Larget-Piet, D., Rozet, J.-M., Bonneau, D., Mathieu, M., Der Kaloustian, V., Munnich, A., Kaplan, J. <strong>Evidence for a fourth locus in Usher syndrome type I.</strong> J. Med. Genet. 33: 77-79, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8825055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8825055</a>] [<a href="https://doi.org/10.1136/jmg.33.1.77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8825055">Gerber et al. (1996)</a> suggested the existence of a novel form of Usher syndrome type I from the fact that the 3 previously reported loci on chromosomes 14q32, 11q13, and 11p15 were excluded by linkage studies in 2 large multiplex families of Moroccan and Pakistani ancestry. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8825055" 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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<a href="#Beatty1979" class="mim-tip-reference" title="Beatty, C. W., McDonald, T. J., Colvard, D. M. <strong>Usher's syndrome with unusual otologic manifestations.</strong> Mayo Clin. Proc. 54: 543-546, 1979.">Beatty et al. (1979)</a>; <a href="#De1970" class="mim-tip-reference" title="De Haas, E. B. H., Van Lith, G. H. M., Rijnders, J., Rumke, A. M. L., Volmer, C. H. <strong>Usher's syndrome, with special reference to heterozygous manifestations.</strong> Doc. Ophthal. 28: 166-190, 1970.">De Haas et al. (1970)</a>; <a href="#Kaplan1991" class="mim-tip-reference" title="Kaplan, J., Gerber, S., Bonneau, D., Rozet, J., Briard, M., Dufier, J., Munnich, A., Frezal, J. <strong>Probable location of Usher type I gene on chromosome 14q by linkage with D14S13 (MLJ14 probe). (Abstract)</strong> Cytogenet. Cell Genet. 58: 1988 only, 1991.">Kaplan et al. (1991)</a>; <a href="#Kaplan1990" class="mim-tip-reference" title="Kaplan, J., Guasconi, G., Bonneau, D., Melki, J., Briard, M.-L., Munnich, A., Dufier, J. L., Frezal, J. <strong>Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity.</strong> Ann. Genet. 33: 105-108, 1990.">Kaplan et al. (1990)</a>; <a href="#Kimberling1990" class="mim-tip-reference" title="Kimberling, W. J. <strong>Personal Communication.</strong> Omaha, Nebraska 3/5/1990.">Kimberling (1990)</a>; <a href="#Nuutila1980" class="mim-tip-reference" title="Nuutila, A. <strong>Dystrophia retinae pigmentosa-dysacusis syndrome (DRD). In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K.: Population Structure and Genetic Disorders.</strong> New York: Academic Press (pub.) 1980. Pp. 614-616.">Nuutila (1980)</a>; <a href="#Smith1989" class="mim-tip-reference" title="Smith, R. J. H., Holcomb, J. D., Daiger, S. P., Caskey, C. T., Pelias, M. Z., Alford, B. R., Fontenot, D. D., Hejtmancik, J. F. <strong>Exclusion of Usher syndrome gene from much of chromosome 4.</strong> Cytogenet. Cell Genet. 50: 102-106, 1989.">Smith et al.
|
|
(1989)</a>; <a href="#Usher1935" class="mim-tip-reference" title="Usher, C. H. <strong>Bowman's lecture: on a few hereditary eye affections.</strong> Trans. Ophthal. Soc. U.K. 55: 164-245, 1935.">Usher (1935)</a>; <a href="#Vernon1969" class="mim-tip-reference" title="Vernon, M. <strong>Usher's syndrome-deafness and progressive blindness. Clinical cases, prevention, theory and literature survey.</strong> J. Chronic Dis. 22: 133-151, 1969.">Vernon (1969)</a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
|
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<a id="Adato1999" class="mim-anchor"></a>
|
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|
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<p class="mim-text-font">
|
|
Adato, A., Kalinski, H., Weil, D., Chaib, H., Korostishevsky, M., Bonne-Tamir, B.
|
|
<strong>Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. (Letter)</strong>
|
|
Am. J. Hum. Genet. 65: 261-265, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364543</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10364543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/302438" target="_blank">Full Text</a>]
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|
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Adato, A., Vreugde, S., Joensuu, T., Avidan, N., Hamalainen, R., Belenkiy, O., Olender, T., Bonne-Tamir, B., Ben-Asher, E., Espinos, C., Millan, J. M., Lehesjoki, A.-E., Flannery, J. G., Avraham, K. B., Pietrovski, S., Sankila, E.-M., Beckmann, J. S., Lancet, D.
|
|
<strong>USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.</strong>
|
|
Europ. J. Hum. Genet. 10: 339-350, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12080385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12080385</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12080385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
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|
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[<a href="https://doi.org/10.1038/sj.ejhg.5200831" target="_blank">Full Text</a>]
|
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|
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|
|
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|
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|
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<li>
|
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|
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<a id="Adato1997" class="mim-anchor"></a>
|
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|
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|
|
Adato, A., Weil, D., Kalinski, H., Pel-Or, Y., Ayadi, H., Petit, C., Korostishevsky, M., Bonne-Tamir, B.
|
|
<strong>Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.</strong>
|
|
Am. J. Hum. Genet. 61: 813-821, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382091</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
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|
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[<a href="https://doi.org/10.1086/514899" target="_blank">Full Text</a>]
|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Ahmed2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ahmed, Z. M., Riazuddin, S., Riazuddin, S., Wilcox, E. R.
|
|
<strong>The molecular genetics of Usher syndrome.</strong>
|
|
Clin. Genet. 63: 431-444, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12786748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12786748</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12786748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
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|
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|
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[<a href="https://doi.org/10.1034/j.1399-0004.2003.00109.x" target="_blank">Full Text</a>]
|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
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<a id="Arden1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Arden, G. B., Fox, B.
|
|
<strong>Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa.</strong>
|
|
Nature 279: 534-536, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/450098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">450098</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=450098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
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|
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[<a href="https://doi.org/10.1038/279534a0" target="_blank">Full Text</a>]
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</p>
|
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</div>
|
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</li>
|
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|
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<li>
|
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|
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|
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<div class="">
|
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<p class="mim-text-font">
|
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Beatty, C. W., McDonald, T. J., Colvard, D. M.
|
|
<strong>Usher's syndrome with unusual otologic manifestations.</strong>
|
|
Mayo Clin. Proc. 54: 543-546, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/459566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">459566</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=459566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</div>
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</li>
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|
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|
<li>
|
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<a id="7" class="mim-anchor"></a>
|
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<a id="Bonne-Tamir1994" class="mim-anchor"></a>
|
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<div class="">
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|
<p class="mim-text-font">
|
|
Bonne-Tamir, B., Korostishevsky, M., Kalinsky, H., Seroussi, E., Beker, R., Weiss, S., Godel, V.
|
|
<strong>Genetic mapping of the gene for Usher syndrome: linkage analysis in a large Samaritan kindred.</strong>
|
|
Genomics 20: 36-42, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8020954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8020954</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8020954" 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/10.1006/geno.1994.1124" target="_blank">Full Text</a>]
|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
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<a id="Bonneau1993" class="mim-anchor"></a>
|
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<div class="">
|
|
<p class="mim-text-font">
|
|
Bonneau, D., Raymond, F., Kremer, C., Klossek, J.-M., Kaplan, J., Patte, F.
|
|
<strong>Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers.</strong>
|
|
J. Med. Genet. 30: 253-254, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8474110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8474110</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8474110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.30.3.253" target="_blank">Full Text</a>]
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|
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</li>
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<li>
|
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<a id="9" class="mim-anchor"></a>
|
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<a id="Boughman1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Boughman, J. A., Vernon, M., Shaver, K. A.
|
|
<strong>Usher syndrome: definition and estimate of prevalence from two high-risk populations.</strong>
|
|
J. Chronic Dis. 36: 595-603, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6885960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6885960</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6885960" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0021-9681(83)90147-9" target="_blank">Full Text</a>]
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</li>
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<li>
|
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<a id="Brueckner1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Brueckner, M., D'Eustachio, P., Horwich, A. L.
|
|
<strong>Linkage mapping of a mouse gene, 'iv,' that controls left-right asymmetry of the heart and viscera.</strong>
|
|
Proc. Nat. Acad. Sci. 86: 5035-5038, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2740340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2740340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2740340" 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/10.1073/pnas.86.13.5035" target="_blank">Full Text</a>]
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|
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</div>
|
|
</li>
|
|
|
|
<li>
|
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<a id="Davenport1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Davenport, S. L. H., Moller, C., Biscone-Halterman, K., Kimberling, W. J.
|
|
<strong>Early diagnosis of Usher syndrome. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 43: A45 only, 1988.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
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<li>
|
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<a id="Davenport1978" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Davenport, S. L. H., O'Nuallain, S., Omenn, G. S., Wilkus, R. J.
|
|
<strong>Usher syndrome in four hard-of-hearing siblings.</strong>
|
|
Pediatrics 62: 578-583, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/714590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">714590</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=714590" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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<div class="">
|
|
<p class="mim-text-font">
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Davenport, S. L. H., Omenn, G. S.
|
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<strong>The heterogeneity of Usher syndrome. (Abstract)</strong>
|
|
Vth International Conference on Birth Defects, Montreal, August 1977.
|
|
|
|
|
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</p>
|
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</div>
|
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</li>
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De Haas, E. B. H., Van Lith, G. H. M., Rijnders, J., Rumke, A. M. L., Volmer, C. H.
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<strong>Usher's syndrome, with special reference to heterozygous manifestations.</strong>
|
|
Doc. Ophthal. 28: 166-190, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5312273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5312273</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5312273" 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/10.1007/BF00153876" target="_blank">Full Text</a>]
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</p>
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<div class="">
|
|
<p class="mim-text-font">
|
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Fishman, G. A., Kumar, A., Joseph, M. E., Torok, N., Anderson, R. J.
|
|
<strong>Usher's syndrome: ophthalmic and neuro-otologic findings suggesting genetic heterogeneity.</strong>
|
|
Arch. Ophthal. 101: 1367-1374, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6604514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6604514</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6604514" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archopht.1983.01040020369005" target="_blank">Full Text</a>]
|
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</p>
|
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|
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|
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Forsius, H., Eriksson, A., Nuutila, A., Vainio-Mattila, B., Krause, U.
|
|
<strong>A genetic study of three rare retinal disorders: dystrophia retinae dysacusis syndrome, X-chromosomal retinoschisis and grouped pigments of the retina.</strong>
|
|
Birth Defects Orig. Art. Ser. 7(3): 83-98, 1971.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5173151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5173151</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5173151" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Gerber2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gerber, S., Bonneau, D., Gilbert, B., Munnich, A., Dufier, J.-L., Rozet, J.-M., Kaplan, J.
|
|
<strong>USH1A: chronicle of a slow death. (Letter)</strong>
|
|
Am. J. Hum. Genet. 78: 357-359, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16400615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16400615</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16400615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/500275" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Gerber1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gerber, S., Larget-Piet, D., Rozet, J.-M., Bonneau, D., Mathieu, M., Der Kaloustian, V., Munnich, A., Kaplan, J.
|
|
<strong>Evidence for a fourth locus in Usher syndrome type I.</strong>
|
|
J. Med. Genet. 33: 77-79, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8825055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8825055</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8825055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.33.1.77" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Gorlin1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gorlin, R. J., Tilsner, T. J., Feinstein, S., Duvall, A. J.
|
|
<strong>Usher's syndrome type III.</strong>
|
|
Arch. Otolaryng. 105: 353-354, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/454290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">454290</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=454290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archotol.1979.00790180051011" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Grondahl1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Grondahl, J., Mjoen, S.
|
|
<strong>Usher syndrome in four Norwegian counties.</strong>
|
|
Clin. Genet. 30: 14-28, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3757293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3757293</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3757293" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1986.tb00564.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Grondahl1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Grondahl, J.
|
|
<strong>Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway.</strong>
|
|
Clin. Genet. 31: 255-264, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3594933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3594933</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3594933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1987.tb02804.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Guilford1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Guilford, P., Ayadi, H., Blanchard, S., Chaib, H., Le Paslier, D., Weissenbach, J., Drira, M., Petit, C.
|
|
<strong>A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.</strong>
|
|
Hum. Molec. Genet. 3: 989-993, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951250</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7951250" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/3.6.989" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Hallgren1959" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hallgren, B.
|
|
<strong>Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: a clinical and genetico-statistical study.</strong>
|
|
Acta Psychiat. Scand. Suppl. 34: 1-101, 1959.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14399116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14399116</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14399116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Hammerschlag1907" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hammerschlag, V.
|
|
<strong>Zur Kenntnis der hereditaer-degenerativen Taubstummen und ihre differential-diagnostische Bedeutung.</strong>
|
|
Z. Ohrenheilk. 54: 18-36, 1907.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Holland1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Holland, M. G., Cambie, E., Kloepfer, W.
|
|
<strong>An evaluation of genetic carriers of Usher's syndrome.</strong>
|
|
Am. J. Ophthal. 74: 940-947, 1972.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4539460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4539460</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4539460" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0002-9394(72)91215-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Hunter1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hunter, D. G., Fishman, G. A., Mehta, R. S., Kretzer, F. L.
|
|
<strong>Abnormal sperm and photoreceptor axonemes in Usher's syndrome.</strong>
|
|
Arch. Ophthal. 104: 385-389, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3954639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3954639</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3954639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archopht.1986.01050150085033" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Jay1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jay, M.
|
|
<strong>Figures and fantasies: the frequencies of the different genetic forms of retinitis pigmentosa.</strong>
|
|
Birth Defects Orig. Art. Ser. 18(6): 167-173, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7171752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7171752</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7171752" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Kaplan1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kaplan, J., Gerber, S., Bonneau, D., Rozet, J., Briard, M., Dufier, J., Munnich, A., Frezal, J.
|
|
<strong>Probable location of Usher type I gene on chromosome 14q by linkage with D14S13 (MLJ14 probe). (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 58: 1988 only, 1991.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Kaplan1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kaplan, J., Gerber, S., Bonneau, D., Rozet, J. M., Delrieu, O., Briard, M. L., Dollfus, H., Ghazi, I., Dufier, J. L., Frezal, J., Munnich, A.
|
|
<strong>A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.</strong>
|
|
Genomics 14: 979-987, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1478676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1478676</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1478676" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0888-7543(05)80120-x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Kaplan1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kaplan, J., Guasconi, G., Bonneau, D., Melki, J., Briard, M.-L., Munnich, A., Dufier, J. L., Frezal, J.
|
|
<strong>Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity.</strong>
|
|
Ann. Genet. 33: 105-108, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1978628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1978628</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1978628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Karjalainen1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Karjalainen, S., Terasvirta, M., Karja, J., Kaariainen, H.
|
|
<strong>An unusual otological manifestation of Usher's syndrome in four siblings.</strong>
|
|
Clin. Genet. 24: 273-279, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6641004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6641004</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6641004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1983.tb00082.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Khateb2018" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Khateb, S., Kowalewski, B., Bedoni, N., Damme, M., Pollack, N., Saada, A., Obolensky, A., Ben-Yosef, T., Gross, M., Dierks, T., Banin, E., Rivolta, C., Sharon, D.
|
|
<strong>A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.</strong>
|
|
Genet. Med. 20: 1004-1012, 2018.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29300381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29300381</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29300381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/gim.2017.227" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Kimberling1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kimberling, W. J., Moller, C. G., Davenport, S., Priluck, I. A., Beighton, P. H., Greenberg, J., Reardon, W., Weston, M. D., Kenyon, J. B., Grunkemeyer, J. A., Pieke Dahl, S., Overbeck, L. D., Blackwood, D. J., Brower, A. M., Hoover, D. M., Rowland, P., Smith, R. J. H.
|
|
<strong>Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.</strong>
|
|
Genomics 14: 988-994, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1478677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1478677</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1478677" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0888-7543(05)80121-1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Kimberling1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kimberling, W. J.
|
|
<strong>Personal Communication.</strong>
|
|
Omaha, Nebraska 3/5/1990.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Lake1973" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lake, K., Sharma, O. P.
|
|
<strong>Kartagener's syndrome and deaf-mutism: an unusual association.</strong>
|
|
Chest 64: 661-663, 1973.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4543013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4543013</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4543013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1378/chest.64.5.661" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Lang1959" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lang, H. A.
|
|
<strong>Retinal degeneration and nerve deafness.</strong>
|
|
Brit. Med. J. 2: 1096 only, 1959.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Larget-Piet1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Larget-Piet, D., Gerber, S., Bonneau, D., Rozet, J.-M., Marc, S., Ghazi, I., Dufier, J.-L., David, A., Bitoun, P., Weissenbach, J., Munnich, A., Kaplan, J.
|
|
<strong>Genetic heterogeneity of Usher syndrome type 1 in French families.</strong>
|
|
Genomics 21: 138-143, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8088781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8088781</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8088781" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/geno.1994.1235" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Le Quesne Stabej2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Le Quesne Stabej, P., Saihan, Z., Rangesh, N., Steele-Stallard, H. B., Ambrose, J., Coffey, A., Emmerson, J., Haralambous, E., Hughes, Y., Steel, K. P., Luxon, L. M., Webster, A. R., Bitner-Glindzicz, M.
|
|
<strong>Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.</strong>
|
|
J. Med. Genet. 49: 27-36, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22135276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22135276</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22135276" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmedgenet-2011-100468" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Liebreich1861" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Liebreich, R.
|
|
<strong>Abkunft aus Ehen unter Blutsverwandten als Grund von Retinitis pigmentosa.</strong>
|
|
Dtsch. Klin. 13: 53 only, 1861.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Lindenov1945" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lindenov, H.
|
|
<strong>The Etiology of Deaf-mutism with Special Reference to Heredity.</strong>
|
|
Copenhagen: E. Munksgaard (pub.) 1945.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Malm2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
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://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'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.3109/13816810.2010.536064" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Moller1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Moller, C. G., Kimberling, W. J., Davenport, S. L. H., Priluck, I., White, V., Biscone-Halterman, K., Odkvist, L. M., Brookhouser, P. E., Lund, G., Grissom, T. J.
|
|
<strong>Usher syndrome: an otoneurologic study.</strong>
|
|
Laryngoscope 99: 73-79, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909824</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2909824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1288/00005537-198901000-00014" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Nuutila1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nuutila, A.
|
|
<strong>Dystrophia retinae pigmentosa-dysacusis syndrome (DRD): a study of the Usher or Hallgren syndrome.</strong>
|
|
J. Genet. Hum. 18: 57-88, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5516287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5516287</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5516287" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Nuutila1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nuutila, A.
|
|
<strong>Dystrophia retinae pigmentosa-dysacusis syndrome (DRD). In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K.: Population Structure and Genetic Disorders.</strong>
|
|
New York: Academic Press (pub.) 1980. Pp. 614-616.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Roberts2015" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Roberts, L., George, S., Greenberg, J., Ramesar, R. S.
|
|
<strong>A founder mutation in MYO7A underlies a significant proportion of Usher syndrome in indigenous South Africans: implications for the African diaspora.</strong>
|
|
Invest. Ophthal. Vis. Sci. 56: 6671-6678, 2015.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26469752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26469752</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26469752" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1167/iovs.15-17028" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="Roux2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Roux, A.-F., Faugere, V., Vache, C., Baux, D., Besnard, T., Leonard, S., Blanchet, C., Hamel, C., Mondain, M., Gilbert-Dussardier, B., Edery, P., Lacombe, D., Bonneau, D., Holder-Espinasse, M., Ambrosetti, U., Journel, H., David, A., Lina-Granade, G., Malcolm, S., Claustres, M.
|
|
<strong>Four-year follow-up of diagnostic service in USH1 patients.</strong>
|
|
Invest. Ophthal. Vis. Sci. 52: 4063-4071, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21436283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21436283</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21436283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1167/iovs.10-6869" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Schaefer1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schaefer, G. B., Bodensteiner, J. B., Thompson, J. N., Jr., Kimberling, W. J., Craft, J. M.
|
|
<strong>Volumetric neuroimaging in Usher syndrome: evidence of global involvement.</strong>
|
|
Am. J. Med. Genet. 79: 1-4, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9738858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9738858</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9738858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="48" class="mim-anchor"></a>
|
|
<a id="Shinkawa1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shinkawa, H., Nadol, J. B., Jr.
|
|
<strong>Histopathology of the inner ear in Usher's syndrome as observed by light and electron microscopy.</strong>
|
|
Ann. Otol. Rhinol. Laryng. 95: 313-318, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3717858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3717858</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3717858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1177/000348948609500321" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Smith1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Smith, R. J. H., Berlin, C. I., Hejtmancik, J. F., Keats, B. J. B., Kimberling, W. J., Lewis, R. A., Moller, C. G., Pelias, M. Z., Tranebjaerg, L.
|
|
<strong>Clinical diagnosis of the Usher syndromes.</strong>
|
|
Am. J. Med. Genet. 50: 32-38, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8160750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8160750</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8160750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320500107" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="50" class="mim-anchor"></a>
|
|
<a id="Smith1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Smith, R. J. H., Holcomb, J. D., Daiger, S. P., Caskey, C. T., Pelias, M. Z., Alford, B. R., Fontenot, D. D., Hejtmancik, J. F.
|
|
<strong>Exclusion of Usher syndrome gene from much of chromosome 4.</strong>
|
|
Cytogenet. Cell Genet. 50: 102-106, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2776474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2776474</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2776474" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000132733" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="51" class="mim-anchor"></a>
|
|
<a id="Smith1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Smith, R. J. H., Lee, E. C., Kimberling, W. J., Daiger, S. P., Pelias, M. Z., Keats, B. J. B., Jay, M., Bird, A., Reardon, W., Guest, M., Ayyagari, R., Hejtmancik, J. F.
|
|
<strong>Localization of two genes for Usher syndrome type I to chromosome 11.</strong>
|
|
Genomics 14: 995-1002, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1478678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1478678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1478678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0888-7543(05)80122-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="52" class="mim-anchor"></a>
|
|
<a id="Tamayo1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tamayo, M. L., Bernal, J. E., Tamayo, G. E., Frias, J. L., Alvira, G., Vergara, O., Rodriguez, V., Uribe, J. I., Silva, J. C.
|
|
<strong>Usher syndrome: results of a screening program in Colombia.</strong>
|
|
Clin. Genet. 40: 304-311, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1756603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1756603</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1756603" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1991.tb03100.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="53" class="mim-anchor"></a>
|
|
<a id="Usher1914" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Usher, C. H.
|
|
<strong>On the inheritance of retinitis pigmentosa, with notes of cases.</strong>
|
|
Roy. Lond. Ophthal. Hosp. Rep. 19: 130-236, 1914.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="54" class="mim-anchor"></a>
|
|
<a id="Usher1935" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Usher, C. H.
|
|
<strong>Bowman's lecture: on a few hereditary eye affections.</strong>
|
|
Trans. Ophthal. Soc. U.K. 55: 164-245, 1935.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="55" class="mim-anchor"></a>
|
|
<a id="Vernon1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vernon, M.
|
|
<strong>Usher's syndrome-deafness and progressive blindness. Clinical cases, prevention, theory and literature survey.</strong>
|
|
J. Chronic Dis. 22: 133-151, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4897966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4897966</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4897966" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0021-9681(69)90055-1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
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<a id="56" class="mim-anchor"></a>
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<a id="Von Graefe1858" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Von Graefe, A.
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<strong>Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netzhaut.</strong>
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Graefes Arch. Ophthal. 4: 250-253, 1858.
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|
|
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<a id="Wagenaar1995" class="mim-anchor"></a>
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<p class="mim-text-font">
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Wagenaar, M., ter Rahe, B., van Aarem, A., Huygen, P., Admiraal, R., Bleeker-Wagemakers, E., Pinckers, A., Kimberling, W., Cremers, C.
|
|
<strong>Clinical findings in obligate carriers of type I Usher syndrome.</strong>
|
|
Am. J. Med. Genet. 59: 375-379, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8599365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8599365</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8599365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320590319" target="_blank">Full Text</a>]
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<a id="58" class="mim-anchor"></a>
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<a id="Weil1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M., Petit, C.
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<strong>Defective myosin VIIA gene responsible for Usher syndrome type 1B.</strong>
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Nature 374: 60-61, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7870171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7870171</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7870171" 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/10.1038/374060a0" target="_blank">Full Text</a>]
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<a id="59" class="mim-anchor"></a>
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<a id="Weil1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weil, D., Kussel, P., Blanchard, S., Levy, G., Levi-Acobas, F., Drira, M., Ayadi, H., Petit, C.
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<strong>The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.</strong>
|
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Nature Genet. 16: 191-193, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9171833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9171833</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9171833" 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/ng0697-191" target="_blank">Full Text</a>]
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<a id="60" class="mim-anchor"></a>
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<a id="Woods1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Woods, M. O., Young, T.-L., Parfrey, P. S., Hefferton, D., Green, J. S., Davidson, W. S.
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<strong>Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus.</strong>
|
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Genomics 55: 2-9, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9888993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9888993</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9888993" 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/10.1006/geno.1998.5626" target="_blank">Full Text</a>]
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<a id="61" class="mim-anchor"></a>
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<a id="Zina2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zina, Z. B., Masmoudi, S., Ayadi, H., Chaker, F., Ghorbel, A. M., Drira, M., Petit, C.
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<strong>From DFNB2 to Usher syndrome: variable expressivity of the same disease. (Letter)</strong>
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Am. J. Med. Genet. 101: 181-183, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11391666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11391666</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11391666" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1335" target="_blank">Full Text</a>]
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</ol>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Jane Kelly - updated : 3/8/2016
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 4/25/2012<br>Jane Kelly - updated : 8/26/2011<br>Jane Kelly - updated : 8/15/2011<br>Marla J. F. O'Neill - updated : 5/3/2011<br>Victor A. McKusick - updated : 1/23/2006<br>Victor A. McKusick - updated : 7/10/2003<br>Victor A. McKusick - updated : 9/16/1998
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/14/2023
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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alopez : 08/04/2023<br>carol : 12/06/2018<br>carol : 12/05/2018<br>carol : 01/26/2018<br>carol : 07/19/2017<br>carol : 10/17/2016<br>carol : 04/12/2016<br>carol : 3/8/2016<br>carol : 4/16/2014<br>joanna : 1/14/2014<br>carol : 12/19/2012<br>ckniffin : 12/18/2012<br>carol : 10/15/2012<br>ckniffin : 10/15/2012<br>carol : 4/26/2012<br>ckniffin : 4/25/2012<br>carol : 8/29/2011<br>terry : 8/26/2011<br>carol : 8/22/2011<br>carol : 8/19/2011<br>terry : 8/15/2011<br>carol : 5/6/2011<br>carol : 5/5/2011<br>terry : 5/3/2011<br>wwang : 2/24/2009<br>ckniffin : 2/19/2009<br>alopez : 3/18/2008<br>alopez : 11/5/2007<br>carol : 2/28/2007<br>carol : 2/28/2006<br>carol : 2/28/2006<br>alopez : 1/26/2006<br>terry : 1/23/2006<br>mgross : 3/17/2004<br>carol : 7/11/2003<br>terry : 7/10/2003<br>kayiaros : 7/12/1999<br>alopez : 5/14/1999<br>alopez : 5/14/1999<br>terry : 5/11/1999<br>alopez : 9/16/1998<br>terry : 9/16/1998<br>terry : 11/5/1997<br>terry : 11/5/1997<br>alopez : 6/25/1997<br>davew : 8/24/1994<br>carol : 6/7/1994<br>pfoster : 4/21/1994<br>warfield : 4/20/1994<br>mimadm : 4/18/1994<br>carol : 11/11/1993
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<h3>
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<span class="mim-font">
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<strong>#</strong> 276900
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</span>
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</h3>
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<div>
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<h3>
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USHER SYNDROME, TYPE I; USH1
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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US1<br />
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RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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<div>
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<span class="h3 mim-font">
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USHER SYNDROME, TYPE IB, INCLUDED; USH1B, INCLUDED
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<span class="h4 mim-font">
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USHER SYNDROME, TYPE IA, FORMERLY, INCLUDED; USH1A, FORMERLY, INCLUDED<br />
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USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY, INCLUDED
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 232057003;
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<strong>ORPHA:</strong> 231169, 886;
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<strong>DO:</strong> 0110826;
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<td>
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<span class="mim-font">
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11q13.5
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<td>
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<span class="mim-font">
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Usher syndrome, type 1B
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</td>
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<td>
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<span class="mim-font">
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276900
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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<td>
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<span class="mim-font">
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MYO7A
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</td>
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<td>
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<span class="mim-font">
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276903
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</tbody>
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Usher syndrome type IB (USH1B) is caused by homozygous or compound heterozygous mutation in the MYO7A gene (276903) on chromosome 11q13.</p>
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</span>
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<div>
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</div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (276901) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3; 276902) have progressive hearing loss. Patients with type IV (USH4; 618144) have late onset of both retinitis pigmentosa and progressive, moderate to severe sensorineural hearing loss without vestibular involvement (Khateb et al., 2018). </p><p><strong><em>Genetic Heterogeneity of Usher Syndrome Type I</em></strong></p><p>
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USH type I is genetically heterogeneous. USH1C (276904), the 'Acadian variety,' is caused by mutation in harmonin (605242), on 11p15. USH1D (601067) is caused by mutation in the cadherin-23 (CDH23; 605516) on 10q21. USH1F (602083) is caused by mutation in the protocadherin-15 (PCDH15; 605514) on 10q22. USH1G (606943) is caused by mutation in the SANS gene (607696), on 17q25. USH1E (602097) maps to 21q21, and USH1H (612632) maps to 15q22-q23. USH1J (614869) is caused by mutation in the CIB2 gene (605564) on 15q24. USH1K (614990) maps to chromosome 10p11.21-q21.1.</p><p>A form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see 601067), thus supporting a digenic model for some individuals with this phenotype.</p><p>Gerber et al. (2006) presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci. </p><p>Ahmed et al. (2003) reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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<p>Usher syndrome, or more appropriately the Usher syndromes, are named for Charles Usher (1914), a British ophthalmologist who emphasized their hereditary nature. The earliest descriptions were given by Von Graefe (1858), Liebreich (1861), who observed the syndrome among Jews in Berlin, and Hammerschlag (1907). Lindenov (1945) wrote on deaf-mutism associated with retinitis pigmentosa and 'feeblemindedness.' Lang (1959) observed 5 affected children out of 10 from a first-cousin marriage. Hallgren (1959) found 177 affected persons in 102 families. In addition to the features noted in the title of his paper, cataract developed by age 40 in most. Mental deficiency and psychosis occurred in about one-quarter of cases. A large majority had a disturbance of gait attributed to a lesion of the labyrinth. </p><p>In Finland, Nuutila (1970) found 133 persons with retinitis pigmentosa and congenital sensory deafness, 4 with RP and progressive sensory deafness. Numerous studies suggest genetic heterogeneity of this phenotype. On the basis of 133 patients in Finland, Forsius et al. (1971) concluded that there are 2 distinct forms of the Usher syndrome: one characterized by congenital deafness and severe retinitis pigmentosa, and a second less frequent form in which the inner ear and retina are less severely affected. </p><p>Holland et al. (1972) found gyrate atrophy in a few heterozygotes. Davenport et al. (1978) found that about 90% of reported cases had profound congenital deafness with onset of RP before puberty, whereas the rest had moderate to severe hearing loss from birth and RP beginning after puberty. Ataxia, probably labyrinthine in origin, occurred in a great majority of the first type and in a few of the second. The possibility of an X-linked form was suggested by 2 pairs of affected brothers whose mothers were sisters. </p><p>Gorlin et al. (1979) summarized the classification of Davenport and Omenn (1977) as follows: type I--profound congenital deafness with onset of RP by age 10; type II--moderate to severe congenital deafness with onset of RP in late teens (276901); type III--RP first noted at puberty with progressive hearing loss; type IV--possible X-linked form. The fourth type was based on the observation of 4 affected brothers reported by Davenport et al. (1978). In fact, autosomal recessive inheritance was considered most likely; the heterozygous parents showed unilateral high-frequency hearing loss with normal retinal and vestibular function. </p><p>Jay (1982) found 16 Usher syndrome families out of 571 RP families in the experience of the Moorfields Eye Hospital in London. Other numbers were: autosomal dominant, 130 families; X-linked, 27; autosomal recessive, 5; male multiplex, 24; mixed multiplex, 76; simplex, 292 and adopted, 1. In 4 of 10 sibs, Karjalainen et al. (1983) described an unusual form of Usher syndrome. In 2, hearing loss developed in school age; in the other 2, it developed in the thirties. In 1, retinitis pigmentosa was diagnosed before hearing impairment was evident. In a study of 70 patients, Fishman et al. (1983) also suggested the existence of 2 distinct types of Usher syndrome. In their experience, the deafness is congenital and nonprogressive, whereas the retinitis pigmentosa is progressive. In their type I, onset of night blindness was earlier, visual field loss occurred earlier and in greater severity, hearing impairment was more severe, speech was more likely to be unintelligible, vestibular reflexes and clinically evident ataxia were more frequently found--all as contrasted with type II. Of the 70 patients, 46 were type II. </p><p>Boughman et al. (1983) reviewed information on 600 cases of deaf-blindness in the registry of the Helen Keller National Center for Deaf Blind Youths and Adults. Of these, 54% satisfied criteria for the diagnosis of Usher syndrome, although only 23.8% had been so diagnosed. From the Louisiana School for the Deaf, they ascertained 30 males and 18 females in 26 nuclear families, reflecting the recognized high frequency in the Louisiana Acadian population. </p><p>Grondahl and Mjoen (1986) found 18 cases of Usher syndrome among 89 probands selected for tapetoretinal degeneration. Among the relatives, another 10 cases of Usher syndrome were found. These fell into the 3 types as follows: type I, 14 cases; type II, 10 cases; type III (according to Davenport and Omenn (1977)), 4 cases. In 12 families the pattern of inheritance was autosomal recessive; the remaining 6 probands were solitary cases without parental consanguinity. There was a high intrafamilial correlation with respect to hearing function. Vestibular response was abolished in 3 patients with type I and was normal in 3 patients with type II and in 1 patient with type III. </p><p>In Norway, Grondahl (1987) found 28 patients from 18 families with Usher syndrome. Both retinitis pigmentosa and Usher syndrome were more prevalent in Lapps than in other Norwegians. </p><p>Davenport et al. (1988) recognized 2 main types and a third rare type. Type I not only has congenital profound deafness and early onset of RP, but also congenitally absent vestibular function. Their type II has hearing loss which is congenital and of high frequency type, with little deterioration and with later onset of RP and normal vestibular function. In type III both hearing and vision start out normal or near-normal and progressively deteriorate over several decades. Type I children, because of the vestibular defect, have delayed motor milestones and clumsiness. Type II children are usually 'mainstreamed' with no problems until teen age.</p><p>Smith et al. (1994) described criteria for the clinical diagnosis of Usher syndrome, adopted by the Usher Syndrome Consortium. They pointed out that there was evidence for at least 3 distinct USH1 loci (USH1A, USH1B, USH1C) and 2 distinct USH2 loci. They pointed to the need to exclude congenital infections, such as rubella, syphilis, and cytomegalovirus, and problems associated with gestation, delivery, or the perinatal period that also can cause profound hearing loss and retinal damage. </p><p>Photoreceptors, auditory hair cells, and vestibular hair cells develop from ciliated progenitors. Several lines of evidence suggest that a generalized abnormality of axoneme structure is present in patients with Usher syndrome. Hunter et al. (1986) found a high proportion of abnormal axonemes in retinal photoreceptor cells of a patient with Usher syndrome. Shinkawa and Nadol (1986) found a decrease in outer ciliary cells in the lower part of the cochlea in this syndrome. Structural and functional evidence for abnormal nasal cilia has been found in this disorder as in other patients with retinitis pigmentosa (Arden and Fox, 1979). Finally, sperm motility, velocity, and structure have been found abnormal in Usher syndrome, a feature probably related to the markedly decreased fertility of these patients (Hunter et al., 1986; Nuutila, 1970). Brueckner et al. (1989) found that the iv (inversus viscerum; see 603339) mutation in the mouse maps to a corresponding region; this mouse mutation may be homologous to Kartagener syndrome (244400). Lake and Sharma (1973) reported the association of Kartagener syndrome with retinitis pigmentosa and congenital deafness. Bonneau et al. (1993) reported the association of type I Usher syndrome with bronchiectasis, chronic sinusitis, and reduced nasal mucociliary clearance in 2 brothers and suggested that USH1 could be a primary ciliary disorder. </p><p>Schaefer et al. (1998) performed quantitative analysis of magnetic resonance imaging studies of 19 patients with Usher syndrome (8 with type I, 11 with type II). They found a significant decrease in intracranial volume and in size of the brain and cerebellum with a trend toward an increase in the size of the subarachnoid spaces. These data suggested that the disease process in Usher syndrome involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. </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. In 3 of the patients with Usher type I, multifocal electroretinography (mfERG) demonstrated a specific pattern with a sharp distinction between the area of reduced function and the central area with remaining macular function and normal peak time. 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>Inheritance</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>Usher syndrome is inherited in an autosomal recessive manner. In an extensive genetic study of 9 Usher syndrome genes in 172 patients with Usher syndrome due to various genetic defects, Le Quesne Stabej et al. (2012) found no evidence for digenic inheritance. Mutations in the MYO7A gene were the most common, accounting for 53.2% of families. </p>
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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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<span class="mim-text-font">
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<p>The frequency of Usher syndrome was estimated to be 3.0/100,000 in Scandinavia (Hallgren, 1959) and 4.4/100,000 in the United States (Boughman et al., 1983). Grondahl (1987) calculated the prevalence of Usher syndrome in Norway to be 3.6 in 100,000. In Colombia, Tamayo et al. (1991) found that about 70% of the Usher syndrome cases were type I, about 26% type II, and 4% type III. </p><p>Weil et al. (1995) stated that USH1B accounts for about 75% of type I Usher syndrome patients. </p><p>In 6 (42.86%) of 14 indigenous South African probands with USH, Roberts et al. (2015) identified a homozygous mutation (c.6377delC) in the MYO7A gene. All 6 shared a common haplotype. </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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</div>
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<span class="mim-text-font">
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<p>Kimberling et al. (1992) mapped a form of Usher syndrome to 11q, probably distal to marker D11S527. Their study was based on 27 families from the United States, Sweden, Ireland, and South Africa. There were no families from either the Louisiana Acadian population or the Poitou-Charentes region of France. </p><p>Smith et al. (1992) investigated 11 British USH1 families and confirmed linkage to D11S527 at 11q. The locus for Best disease (153700) also maps to 11q3. In an extensive Samaritan kindred in Israel, Bonne-Tamir et al. (1994) demonstrated linkage of the Usher syndrome phenotype to markers on 11q. Complete linkage disequilibrium between D11S533 and the Usher gene suggested that these loci are either identical or adjacent. </p><p>Wagenaar et al. (1995) studied 17 obligate carriers from 9 families with autosomal recessive Usher syndrome type I. Linkage studies showed linkage to 11q13.5 in 6 families, while 3 families failed to show linkage to candidate regions. Eight obligate carriers had an abnormal pure-tone audiogram. Four carriers had significant sensorineural hearing loss which increased at higher frequencies. The other 13 carriers had sensorineural hearing loss of about 10 dB at 0.25 and 0.5 kHz, but less at higher frequencies. Electrooculography demonstrated a significantly lower mean light peak/dark trough ratio in carriers than in controls. The methods were, however, not sufficiently specific to identify carriers with confidence. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Weil et al. (1995) demonstrated that mutation in the gene encoding myosin VIIA is responsible for Usher syndrome type IB. Two different premature stop codons, a 6-bp deletion, and 2 missense mutations were detected in 5 unrelated families (see, e.g., 276903.0001-276903.0005). In 1 of these families, the mutations were identified in both alleles. These mutations, which are located at the amino-terminal end of the motor domain of the protein, are likely to result in the absence of a functional protein. </p><p>Zina et al. (2001) reevaluated a large consanguineous family from Tunisia, originally reported by Guilford et al. (1994) to have autosomal recessive sensorineural deafness (600060) and in which Weil et al. (1997) identified homozygosity for a missense mutation in the MYO7A gene (276903.0010). Since the original reports, 5 patients had developed mild retinal degeneration in addition to the progressive deafness. Fundus examination of 1 patient showed spicule pigmentary changes consistent with retinal dystrophy. Another previously unaffected family member, homozygous for the mutation, had retinitis pigmentosa. Seven patients had abnormal vestibular function as assessed by caloric tests. Zina et al. (2001) concluded that some patients in this Tunisian family had features consistent with Usher syndrome type IB, and suggested that other factors must modulate the expression of the phenotype. </p><p>Adato et al. (1999) described a complex rearrangement of the MYO7A gene that might have a synergistic effect on the symptoms of another type of Usher syndrome, namely USH3 (276902), the rarest form of USH. Adato et al. (1997) reported a nonconsanguineous family of Jewish Yemenite origin with 2 affected and 6 healthy sibs, in which the 2 affected brothers had different USH phenotypes: one had a typical USH1 phenotype, whereas the other had a typical USH3 phenotype. Both affected brothers had onset of bilateral progressive pigmentary retinopathy during early adolescence. Adato et al. (1999) performed haplotype segregation and linkage analysis in this family that resulted in exclusion of all USH1 and USH2 loci and suggested linkage only to the USH3 locus on chromosome 3q21; both affected brothers were homozygous for alleles of 4 markers on 3q. Since one of the affected brothers had a USH1 phenotype, family members were screened for mutations in the MYO7A gene, and 2 novel, closely situated nucleotide changes were detected in exon 25 of the MYO7A gene on 1 maternal chromosome: a T-to-C transition and a guanine deletion 5 nucleotides upstream of this transition (276903.0014). The mutated MYO7A gene was carried by the brother with the more severe USH1 phenotype, but not by his affected brother with the USH3 phenotype. The mother and 2 unaffected sibs, who were all double heterozygotes for the mutated MYO7A and for a single USH3 haplotype, showed no evidence of any Usher symptoms or nonsyndromic deafness. This suggested a digenic inheritance pattern, with a possible synergistic interaction between MYO7A and the USH3 gene product, where presence of a single defective MYO7A allele seemed to increase the severity of deafness as a part of the clinical symptoms associated with USH3. Adato et al. (2002) restudied the Jewish Yemenite family originally reported by Adato et al. (1997) and identified homozygosity for a 23-bp deletion in the CLRN1 gene (606397.0007) in the affected brothers. The authors stated that this represented a departure from the monogenic model for Usher syndrome. </p><p>In a 4-year follow-up of their diagnostic service in France for patients with Usher syndrome type I, which included preliminary haplotyping before gene sequencing, Roux et al. (2011) stated that they had identified the pathogenic genotype in over 90% of patients. Of the mutations identified, 32% were novel. </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>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><strong><em>Usher Syndrome Type IA</em></strong></p><p>
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In an intriguing 'chronicle of a slow death,' Gerber et al. (2006) concluded that the presumed USH1A locus on 14q32 does not exist. The USH1A locus was described by Kaplan et al. (1992) and Larget-Piet et al. (1994) on the basis of linkage studies in 9 families originating from the Poitou-Charentes region, around the town of Bressuire in France. This form of Usher syndrome was also referred to as the French variety. No disease-associated alteration was found in any candidate gene candidate gene at the USH1A locus. Results of studies of a new multiplex family with Usher syndrome type 1 originating from the Bressuire region surprisingly showed exclusion of linkage to chromosome 14 but were compatible with linkage to the USH1B locus on 11q. Furthermore, Gerber et al. (2006) had an opportunity to study a healthy individual in 1 of the 8 original USH1A families who was unavailable for study in 1992; this individual turned out to be haploidentical to his affected sibs, which strongly challenged the existence of the USHA1 locus. These 2 unexpected data prompted a screening for mutations in the major USH1 gene myosin VIIA (MYO7A; 276903) in the Bressuire families. The results of this study 'signed the death warrant of the USH1A locus,' since mutations were identified in 6 of the 9 original families. Of these and the 1 additional family, 7 harbored mutations in the MYO7A gene, 1 was compatible with linkage to USH1D and USH1E loci, and 1 excluded all USH1 loci including the 14q32.1 region. No DNA was available for further linkage studies in the last family. </p><p>In the reevaluation, Kaplan and her colleagues (Gerber et al., 2006) suggested that they should not have made the hypothesis of a founder effect in the original study without evidence for linkage disequilibrium. Indeed most of the patients of Bressuire harbored different MYO7A mutations. A parallel was drawn to the case in the isolated Newfoundland population where a high incidence of Bardet-Biedl syndrome (209900) exists. The genetic study of 17 BBS kindreds hailing from this region showed that at least 4 loci might account for the disease (Woods et al., 1999). </p><p>Gerber et al. (1996) suggested the existence of a novel form of Usher syndrome type I from the fact that the 3 previously reported loci on chromosomes 14q32, 11q13, and 11p15 were excluded by linkage studies in 2 large multiplex families of Moroccan and Pakistani ancestry. </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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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Beatty et al. (1979); De Haas et al. (1970); Kaplan et al. (1991);
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Kaplan et al. (1990); Kimberling (1990); Nuutila (1980); Smith et al.
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(1989); Usher (1935); Vernon (1969)
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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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<div>
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<ol>
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<p class="mim-text-font">
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Adato, A., Kalinski, H., Weil, D., Chaib, H., Korostishevsky, M., Bonne-Tamir, B.
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<strong>Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. (Letter)</strong>
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Am. J. Hum. Genet. 65: 261-265, 1999.
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[PubMed: 10364543]
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[Full Text: https://doi.org/10.1086/302438]
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Adato, A., Vreugde, S., Joensuu, T., Avidan, N., Hamalainen, R., Belenkiy, O., Olender, T., Bonne-Tamir, B., Ben-Asher, E., Espinos, C., Millan, J. M., Lehesjoki, A.-E., Flannery, J. G., Avraham, K. B., Pietrovski, S., Sankila, E.-M., Beckmann, J. S., Lancet, D.
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<strong>USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.</strong>
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Europ. J. Hum. Genet. 10: 339-350, 2002.
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[PubMed: 12080385]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200831]
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</p>
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<p class="mim-text-font">
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Adato, A., Weil, D., Kalinski, H., Pel-Or, Y., Ayadi, H., Petit, C., Korostishevsky, M., Bonne-Tamir, B.
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<strong>Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.</strong>
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Am. J. Hum. Genet. 61: 813-821, 1997.
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[PubMed: 9382091]
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[Full Text: https://doi.org/10.1086/514899]
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</li>
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<p class="mim-text-font">
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Ahmed, Z. M., Riazuddin, S., Riazuddin, S., Wilcox, E. R.
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<strong>The molecular genetics of Usher syndrome.</strong>
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Clin. Genet. 63: 431-444, 2003.
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[PubMed: 12786748]
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[Full Text: https://doi.org/10.1034/j.1399-0004.2003.00109.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Arden, G. B., Fox, B.
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<strong>Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa.</strong>
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Nature 279: 534-536, 1979.
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[PubMed: 450098]
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[Full Text: https://doi.org/10.1038/279534a0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Beatty, C. W., McDonald, T. J., Colvard, D. M.
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<strong>Usher's syndrome with unusual otologic manifestations.</strong>
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Mayo Clin. Proc. 54: 543-546, 1979.
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[PubMed: 459566]
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<p class="mim-text-font">
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Bonne-Tamir, B., Korostishevsky, M., Kalinsky, H., Seroussi, E., Beker, R., Weiss, S., Godel, V.
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<strong>Genetic mapping of the gene for Usher syndrome: linkage analysis in a large Samaritan kindred.</strong>
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Genomics 20: 36-42, 1994.
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[PubMed: 8020954]
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[Full Text: https://doi.org/10.1006/geno.1994.1124]
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<p class="mim-text-font">
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Bonneau, D., Raymond, F., Kremer, C., Klossek, J.-M., Kaplan, J., Patte, F.
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<strong>Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers.</strong>
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J. Med. Genet. 30: 253-254, 1993.
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[PubMed: 8474110]
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[Full Text: https://doi.org/10.1136/jmg.30.3.253]
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<li>
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<p class="mim-text-font">
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Boughman, J. A., Vernon, M., Shaver, K. A.
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<strong>Usher syndrome: definition and estimate of prevalence from two high-risk populations.</strong>
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J. Chronic Dis. 36: 595-603, 1983.
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[PubMed: 6885960]
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[Full Text: https://doi.org/10.1016/0021-9681(83)90147-9]
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</p>
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<p class="mim-text-font">
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Brueckner, M., D'Eustachio, P., Horwich, A. L.
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<strong>Linkage mapping of a mouse gene, 'iv,' that controls left-right asymmetry of the heart and viscera.</strong>
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Proc. Nat. Acad. Sci. 86: 5035-5038, 1989.
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[PubMed: 2740340]
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[Full Text: https://doi.org/10.1073/pnas.86.13.5035]
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<p class="mim-text-font">
|
|
Davenport, S. L. H., Moller, C., Biscone-Halterman, K., Kimberling, W. J.
|
|
<strong>Early diagnosis of Usher syndrome. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 43: A45 only, 1988.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Davenport, S. L. H., O'Nuallain, S., Omenn, G. S., Wilkus, R. J.
|
|
<strong>Usher syndrome in four hard-of-hearing siblings.</strong>
|
|
Pediatrics 62: 578-583, 1978.
|
|
|
|
|
|
[PubMed: 714590]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Davenport, S. L. H., Omenn, G. S.
|
|
<strong>The heterogeneity of Usher syndrome. (Abstract)</strong>
|
|
Vth International Conference on Birth Defects, Montreal, August 1977.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
De Haas, E. B. H., Van Lith, G. H. M., Rijnders, J., Rumke, A. M. L., Volmer, C. H.
|
|
<strong>Usher's syndrome, with special reference to heterozygous manifestations.</strong>
|
|
Doc. Ophthal. 28: 166-190, 1970.
|
|
|
|
|
|
[PubMed: 5312273]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00153876]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fishman, G. A., Kumar, A., Joseph, M. E., Torok, N., Anderson, R. J.
|
|
<strong>Usher's syndrome: ophthalmic and neuro-otologic findings suggesting genetic heterogeneity.</strong>
|
|
Arch. Ophthal. 101: 1367-1374, 1983.
|
|
|
|
|
|
[PubMed: 6604514]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archopht.1983.01040020369005]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Forsius, H., Eriksson, A., Nuutila, A., Vainio-Mattila, B., Krause, U.
|
|
<strong>A genetic study of three rare retinal disorders: dystrophia retinae dysacusis syndrome, X-chromosomal retinoschisis and grouped pigments of the retina.</strong>
|
|
Birth Defects Orig. Art. Ser. 7(3): 83-98, 1971.
|
|
|
|
|
|
[PubMed: 5173151]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gerber, S., Bonneau, D., Gilbert, B., Munnich, A., Dufier, J.-L., Rozet, J.-M., Kaplan, J.
|
|
<strong>USH1A: chronicle of a slow death. (Letter)</strong>
|
|
Am. J. Hum. Genet. 78: 357-359, 2006.
|
|
|
|
|
|
[PubMed: 16400615]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/500275]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gerber, S., Larget-Piet, D., Rozet, J.-M., Bonneau, D., Mathieu, M., Der Kaloustian, V., Munnich, A., Kaplan, J.
|
|
<strong>Evidence for a fourth locus in Usher syndrome type I.</strong>
|
|
J. Med. Genet. 33: 77-79, 1996.
|
|
|
|
|
|
[PubMed: 8825055]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.33.1.77]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gorlin, R. J., Tilsner, T. J., Feinstein, S., Duvall, A. J.
|
|
<strong>Usher's syndrome type III.</strong>
|
|
Arch. Otolaryng. 105: 353-354, 1979.
|
|
|
|
|
|
[PubMed: 454290]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archotol.1979.00790180051011]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Grondahl, J., Mjoen, S.
|
|
<strong>Usher syndrome in four Norwegian counties.</strong>
|
|
Clin. Genet. 30: 14-28, 1986.
|
|
|
|
|
|
[PubMed: 3757293]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1986.tb00564.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Grondahl, J.
|
|
<strong>Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway.</strong>
|
|
Clin. Genet. 31: 255-264, 1987.
|
|
|
|
|
|
[PubMed: 3594933]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1987.tb02804.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Guilford, P., Ayadi, H., Blanchard, S., Chaib, H., Le Paslier, D., Weissenbach, J., Drira, M., Petit, C.
|
|
<strong>A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.</strong>
|
|
Hum. Molec. Genet. 3: 989-993, 1994.
|
|
|
|
|
|
[PubMed: 7951250]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/3.6.989]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hallgren, B.
|
|
<strong>Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: a clinical and genetico-statistical study.</strong>
|
|
Acta Psychiat. Scand. Suppl. 34: 1-101, 1959.
|
|
|
|
|
|
[PubMed: 14399116]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hammerschlag, V.
|
|
<strong>Zur Kenntnis der hereditaer-degenerativen Taubstummen und ihre differential-diagnostische Bedeutung.</strong>
|
|
Z. Ohrenheilk. 54: 18-36, 1907.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Holland, M. G., Cambie, E., Kloepfer, W.
|
|
<strong>An evaluation of genetic carriers of Usher's syndrome.</strong>
|
|
Am. J. Ophthal. 74: 940-947, 1972.
|
|
|
|
|
|
[PubMed: 4539460]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9394(72)91215-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hunter, D. G., Fishman, G. A., Mehta, R. S., Kretzer, F. L.
|
|
<strong>Abnormal sperm and photoreceptor axonemes in Usher's syndrome.</strong>
|
|
Arch. Ophthal. 104: 385-389, 1986.
|
|
|
|
|
|
[PubMed: 3954639]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archopht.1986.01050150085033]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jay, M.
|
|
<strong>Figures and fantasies: the frequencies of the different genetic forms of retinitis pigmentosa.</strong>
|
|
Birth Defects Orig. Art. Ser. 18(6): 167-173, 1982.
|
|
|
|
|
|
[PubMed: 7171752]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kaplan, J., Gerber, S., Bonneau, D., Rozet, J., Briard, M., Dufier, J., Munnich, A., Frezal, J.
|
|
<strong>Probable location of Usher type I gene on chromosome 14q by linkage with D14S13 (MLJ14 probe). (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 58: 1988 only, 1991.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kaplan, J., Gerber, S., Bonneau, D., Rozet, J. M., Delrieu, O., Briard, M. L., Dollfus, H., Ghazi, I., Dufier, J. L., Frezal, J., Munnich, A.
|
|
<strong>A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.</strong>
|
|
Genomics 14: 979-987, 1992.
|
|
|
|
|
|
[PubMed: 1478676]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0888-7543(05)80120-x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kaplan, J., Guasconi, G., Bonneau, D., Melki, J., Briard, M.-L., Munnich, A., Dufier, J. L., Frezal, J.
|
|
<strong>Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity.</strong>
|
|
Ann. Genet. 33: 105-108, 1990.
|
|
|
|
|
|
[PubMed: 1978628]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Karjalainen, S., Terasvirta, M., Karja, J., Kaariainen, H.
|
|
<strong>An unusual otological manifestation of Usher's syndrome in four siblings.</strong>
|
|
Clin. Genet. 24: 273-279, 1983.
|
|
|
|
|
|
[PubMed: 6641004]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1983.tb00082.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Khateb, S., Kowalewski, B., Bedoni, N., Damme, M., Pollack, N., Saada, A., Obolensky, A., Ben-Yosef, T., Gross, M., Dierks, T., Banin, E., Rivolta, C., Sharon, D.
|
|
<strong>A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.</strong>
|
|
Genet. Med. 20: 1004-1012, 2018.
|
|
|
|
|
|
[PubMed: 29300381]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/gim.2017.227]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kimberling, W. J., Moller, C. G., Davenport, S., Priluck, I. A., Beighton, P. H., Greenberg, J., Reardon, W., Weston, M. D., Kenyon, J. B., Grunkemeyer, J. A., Pieke Dahl, S., Overbeck, L. D., Blackwood, D. J., Brower, A. M., Hoover, D. M., Rowland, P., Smith, R. J. H.
|
|
<strong>Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.</strong>
|
|
Genomics 14: 988-994, 1992.
|
|
|
|
|
|
[PubMed: 1478677]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0888-7543(05)80121-1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kimberling, W. J.
|
|
<strong>Personal Communication.</strong>
|
|
Omaha, Nebraska 3/5/1990.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lake, K., Sharma, O. P.
|
|
<strong>Kartagener's syndrome and deaf-mutism: an unusual association.</strong>
|
|
Chest 64: 661-663, 1973.
|
|
|
|
|
|
[PubMed: 4543013]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1378/chest.64.5.661]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lang, H. A.
|
|
<strong>Retinal degeneration and nerve deafness.</strong>
|
|
Brit. Med. J. 2: 1096 only, 1959.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Larget-Piet, D., Gerber, S., Bonneau, D., Rozet, J.-M., Marc, S., Ghazi, I., Dufier, J.-L., David, A., Bitoun, P., Weissenbach, J., Munnich, A., Kaplan, J.
|
|
<strong>Genetic heterogeneity of Usher syndrome type 1 in French families.</strong>
|
|
Genomics 21: 138-143, 1994.
|
|
|
|
|
|
[PubMed: 8088781]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1994.1235]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Le Quesne Stabej, P., Saihan, Z., Rangesh, N., Steele-Stallard, H. B., Ambrose, J., Coffey, A., Emmerson, J., Haralambous, E., Hughes, Y., Steel, K. P., Luxon, L. M., Webster, A. R., Bitner-Glindzicz, M.
|
|
<strong>Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.</strong>
|
|
J. Med. Genet. 49: 27-36, 2012.
|
|
|
|
|
|
[PubMed: 22135276]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmedgenet-2011-100468]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Liebreich, R.
|
|
<strong>Abkunft aus Ehen unter Blutsverwandten als Grund von Retinitis pigmentosa.</strong>
|
|
Dtsch. Klin. 13: 53 only, 1861.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lindenov, H.
|
|
<strong>The Etiology of Deaf-mutism with Special Reference to Heredity.</strong>
|
|
Copenhagen: E. Munksgaard (pub.) 1945.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
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: 21174530]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3109/13816810.2010.536064]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Moller, C. G., Kimberling, W. J., Davenport, S. L. H., Priluck, I., White, V., Biscone-Halterman, K., Odkvist, L. M., Brookhouser, P. E., Lund, G., Grissom, T. J.
|
|
<strong>Usher syndrome: an otoneurologic study.</strong>
|
|
Laryngoscope 99: 73-79, 1989.
|
|
|
|
|
|
[PubMed: 2909824]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1288/00005537-198901000-00014]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nuutila, A.
|
|
<strong>Dystrophia retinae pigmentosa-dysacusis syndrome (DRD): a study of the Usher or Hallgren syndrome.</strong>
|
|
J. Genet. Hum. 18: 57-88, 1970.
|
|
|
|
|
|
[PubMed: 5516287]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nuutila, A.
|
|
<strong>Dystrophia retinae pigmentosa-dysacusis syndrome (DRD). In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K.: Population Structure and Genetic Disorders.</strong>
|
|
New York: Academic Press (pub.) 1980. Pp. 614-616.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roberts, L., George, S., Greenberg, J., Ramesar, R. S.
|
|
<strong>A founder mutation in MYO7A underlies a significant proportion of Usher syndrome in indigenous South Africans: implications for the African diaspora.</strong>
|
|
Invest. Ophthal. Vis. Sci. 56: 6671-6678, 2015.
|
|
|
|
|
|
[PubMed: 26469752]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1167/iovs.15-17028]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roux, A.-F., Faugere, V., Vache, C., Baux, D., Besnard, T., Leonard, S., Blanchet, C., Hamel, C., Mondain, M., Gilbert-Dussardier, B., Edery, P., Lacombe, D., Bonneau, D., Holder-Espinasse, M., Ambrosetti, U., Journel, H., David, A., Lina-Granade, G., Malcolm, S., Claustres, M.
|
|
<strong>Four-year follow-up of diagnostic service in USH1 patients.</strong>
|
|
Invest. Ophthal. Vis. Sci. 52: 4063-4071, 2011.
|
|
|
|
|
|
[PubMed: 21436283]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1167/iovs.10-6869]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schaefer, G. B., Bodensteiner, J. B., Thompson, J. N., Jr., Kimberling, W. J., Craft, J. M.
|
|
<strong>Volumetric neuroimaging in Usher syndrome: evidence of global involvement.</strong>
|
|
Am. J. Med. Genet. 79: 1-4, 1998.
|
|
|
|
|
|
[PubMed: 9738858]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shinkawa, H., Nadol, J. B., Jr.
|
|
<strong>Histopathology of the inner ear in Usher's syndrome as observed by light and electron microscopy.</strong>
|
|
Ann. Otol. Rhinol. Laryng. 95: 313-318, 1986.
|
|
|
|
|
|
[PubMed: 3717858]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1177/000348948609500321]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Smith, R. J. H., Berlin, C. I., Hejtmancik, J. F., Keats, B. J. B., Kimberling, W. J., Lewis, R. A., Moller, C. G., Pelias, M. Z., Tranebjaerg, L.
|
|
<strong>Clinical diagnosis of the Usher syndromes.</strong>
|
|
Am. J. Med. Genet. 50: 32-38, 1994.
|
|
|
|
|
|
[PubMed: 8160750]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320500107]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Smith, R. J. H., Holcomb, J. D., Daiger, S. P., Caskey, C. T., Pelias, M. Z., Alford, B. R., Fontenot, D. D., Hejtmancik, J. F.
|
|
<strong>Exclusion of Usher syndrome gene from much of chromosome 4.</strong>
|
|
Cytogenet. Cell Genet. 50: 102-106, 1989.
|
|
|
|
|
|
[PubMed: 2776474]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000132733]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Smith, R. J. H., Lee, E. C., Kimberling, W. J., Daiger, S. P., Pelias, M. Z., Keats, B. J. B., Jay, M., Bird, A., Reardon, W., Guest, M., Ayyagari, R., Hejtmancik, J. F.
|
|
<strong>Localization of two genes for Usher syndrome type I to chromosome 11.</strong>
|
|
Genomics 14: 995-1002, 1992.
|
|
|
|
|
|
[PubMed: 1478678]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0888-7543(05)80122-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tamayo, M. L., Bernal, J. E., Tamayo, G. E., Frias, J. L., Alvira, G., Vergara, O., Rodriguez, V., Uribe, J. I., Silva, J. C.
|
|
<strong>Usher syndrome: results of a screening program in Colombia.</strong>
|
|
Clin. Genet. 40: 304-311, 1991.
|
|
|
|
|
|
[PubMed: 1756603]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1991.tb03100.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Usher, C. H.
|
|
<strong>On the inheritance of retinitis pigmentosa, with notes of cases.</strong>
|
|
Roy. Lond. Ophthal. Hosp. Rep. 19: 130-236, 1914.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Usher, C. H.
|
|
<strong>Bowman's lecture: on a few hereditary eye affections.</strong>
|
|
Trans. Ophthal. Soc. U.K. 55: 164-245, 1935.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vernon, M.
|
|
<strong>Usher's syndrome-deafness and progressive blindness. Clinical cases, prevention, theory and literature survey.</strong>
|
|
J. Chronic Dis. 22: 133-151, 1969.
|
|
|
|
|
|
[PubMed: 4897966]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0021-9681(69)90055-1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Von Graefe, A.
|
|
<strong>Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netzhaut.</strong>
|
|
Graefes Arch. Ophthal. 4: 250-253, 1858.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wagenaar, M., ter Rahe, B., van Aarem, A., Huygen, P., Admiraal, R., Bleeker-Wagemakers, E., Pinckers, A., Kimberling, W., Cremers, C.
|
|
<strong>Clinical findings in obligate carriers of type I Usher syndrome.</strong>
|
|
Am. J. Med. Genet. 59: 375-379, 1995.
|
|
|
|
|
|
[PubMed: 8599365]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320590319]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M., Petit, C.
|
|
<strong>Defective myosin VIIA gene responsible for Usher syndrome type 1B.</strong>
|
|
Nature 374: 60-61, 1995.
|
|
|
|
|
|
[PubMed: 7870171]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/374060a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weil, D., Kussel, P., Blanchard, S., Levy, G., Levi-Acobas, F., Drira, M., Ayadi, H., Petit, C.
|
|
<strong>The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.</strong>
|
|
Nature Genet. 16: 191-193, 1997.
|
|
|
|
|
|
[PubMed: 9171833]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0697-191]
|
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
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Woods, M. O., Young, T.-L., Parfrey, P. S., Hefferton, D., Green, J. S., Davidson, W. S.
|
|
<strong>Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus.</strong>
|
|
Genomics 55: 2-9, 1999.
|
|
|
|
|
|
[PubMed: 9888993]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1998.5626]
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</p>
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</li>
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Zina, Z. B., Masmoudi, S., Ayadi, H., Chaker, F., Ghorbel, A. M., Drira, M., Petit, C.
|
|
<strong>From DFNB2 to Usher syndrome: variable expressivity of the same disease. (Letter)</strong>
|
|
Am. J. Med. Genet. 101: 181-183, 2001.
|
|
|
|
|
|
[PubMed: 11391666]
|
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[Full Text: https://doi.org/10.1002/ajmg.1335]
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