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<title>
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Entry
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- #276902 - USHER SYNDROME, TYPE IIIA; USH3A
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- OMIM
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<span class="h4">#276902</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/276902"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS276900"> <strong>Phenotypic Series</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="#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="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(USHER SYNDROME, TYPE IIIA) OR (CLRN1)" class="mim-tip-hint" title="Clinical Trials" 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 style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19169&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Usher syndrome type 3 </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><a href="https://www.diseaseinfosearch.org/x/7326" 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=276902[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 style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231183" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Usher syndrome type 3</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 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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<div style="display: table-cell;">Animal Models</div>
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</a>
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</span>
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</span>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110841" 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/276902" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 231183, 886<br />
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<strong>DO:</strong> 0110841<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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276902
|
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</span>
|
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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USHER SYNDROME, TYPE IIIA; USH3A
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</span>
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</h3>
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</div>
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<div>
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
USHER SYNDROME, TYPE III; USH3
|
|
</span>
|
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</h4>
|
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</div>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<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/3/783?start=-3&limit=10&highlight=783">
|
|
3q25.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Usher syndrome, type 3A
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276902"> 276902 </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>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
CLRN1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606397"> 606397 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
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|
|
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|
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/276902" 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/276902" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/276902" 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>
|
|
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|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hearing loss, sensorineural, progressive post-lingual <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848628&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848628</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br /> -
|
|
Vestibular dysfunction, variable <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848629&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001756" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001756</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<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 /> -
|
|
Nyctalopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65194006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65194006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/368.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.6</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/368.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000662" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000662</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000662" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000662</a>]</span><br /> -
|
|
Progressive restriction of visual fields <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677959&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677959</a>]</span><br /> -
|
|
Reduction of central visual acuity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848631&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848631</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">
|
|
|
|
- Increased frequency in Finland<br /> -
|
|
USH3 cases account for 40% of all Usher patients in Finland<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 USH3A gene (USH3A, <a href="/entry/606397#0001">606397.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Usher syndrome
|
|
- <a href="/phenotypicSeries/PS276900">PS276900</a>
|
|
- 20 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1707?start=-3&limit=10&highlight=1707"> 1q41 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276901"> Usher syndrome, type 2A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<a href="/entry/276901"> 276901 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608400"> USH2A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608400"> 608400 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/783?start=-3&limit=10&highlight=783"> 3q25.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276902"> Usher syndrome, type 3A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276902"> 276902 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606397"> CLRN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606397"> 606397 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/322?start=-3&limit=10&highlight=322"> 5q14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> Usher syndrome, type 2C, GPR98/PDZD7 digenic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> 605472 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602851"> ADGRV1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602851"> 602851 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/322?start=-3&limit=10&highlight=322"> 5q14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> Usher syndrome, type 2C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> 605472 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602851"> ADGRV1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602851"> 602851 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/544?start=-3&limit=10&highlight=544"> 5q31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614504"> Usher syndrome type 3B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614504"> 614504 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142810"> HARS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142810"> 142810 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/443?start=-3&limit=10&highlight=443"> 9q32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611383"> Usher syndrome, type 2D </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611383"> 611383 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607928"> WHRN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607928"> 607928 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/144?start=-3&limit=10&highlight=144"> 10p11.21-q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614990"> Usher syndrome, type IK </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614990"> 614990 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614990"> USH1K </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614990"> 614990 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/209?start=-3&limit=10&highlight=209"> 10q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601067"> Usher syndrome, type 1D/F digenic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic recessive">DR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601067"> 601067 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605514"> PCDH15 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605514"> 605514 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/209?start=-3&limit=10&highlight=209"> 10q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602083"> Usher syndrome, type 1F </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602083"> 602083 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605514"> PCDH15 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605514"> 605514 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/281?start=-3&limit=10&highlight=281"> 10q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601067"> Usher syndrome, type 1D/F digenic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic recessive">DR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601067"> 601067 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605516"> CDH23 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605516"> 605516 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/281?start=-3&limit=10&highlight=281"> 10q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601067"> Usher syndrome, type 1D </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic recessive">DR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601067"> 601067 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605516"> CDH23 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605516"> 605516 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/491?start=-3&limit=10&highlight=491"> 10q24.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> Usher syndrome, type IIC, GPR98/PDZD7 digenic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605472"> 605472 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612971"> PDZD7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612971"> 612971 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/491?start=-3&limit=10&highlight=491"> 10q24.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276901"> {Retinal disease in Usher syndrome type IIA, modifier of} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276901"> 276901 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612971"> PDZD7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612971"> 612971 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/210?start=-3&limit=10&highlight=210"> 11p15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276904"> Usher syndrome, type 1C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
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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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<a href="/entry/612632"> Usher syndrome, type 1H </a>
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<a href="/entry/612632"> USH1H </a>
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<a href="/entry/612632"> 612632 </a>
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<a href="/entry/614869"> Usher syndrome, type IJ </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<a href="/entry/618144"> Usher syndrome, type IV </a>
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<a href="/entry/610008"> ARSG </a>
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<a href="/geneMap/17/925?start=-3&limit=10&highlight=925"> 17q25.1 </a>
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<a href="/entry/606943"> Usher syndrome, type 1G </a>
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<span class="mim-font">
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<a href="/entry/606943"> 606943 </a>
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<a href="/entry/607696"> USH1G </a>
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<a href="/entry/607696"> 607696 </a>
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<a href="/geneMap/21/16?start=-3&limit=10&highlight=16"> 21q21 </a>
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<a href="/entry/602097"> Usher syndrome, type 1E </a>
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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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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<a href="/entry/602097"> 602097 </a>
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<a href="/entry/602097"> USH1E </a>
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<a href="/entry/602097"> 602097 </a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Usher syndrome type IIIA (USH3A) is caused by homozygous or compound heterozygous mutation in the CLRN1 gene (<a href="/entry/606397">606397</a>) on chromosome 3q25.</p><p>Mutation in the same gene can cause a form of nonsyndromic retinitis pigmentosa (RP61; <a href="/entry/614180">614180</a>).</p>
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<strong>Description</strong>
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<p>Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (<a href="#10" class="mim-tip-reference" title="Karjalainen, S., Vartiainen, E., Terasvirta, M., Karja, J., Kaariainen, H. <strong>An unusual otological manifestation of Usher's syndrome in 4 siblings.</strong> Adv. Audiol. 3: 32-40, 1985."None>Karjalainen et al., 1985</a>; <a href="#13" class="mim-tip-reference" title="Pakarinen, L., Tuppurainen, K., Laippala, P., Mantyjarvi, M., Puhakka, H. <strong>The ophthalmological course of Usher syndrome type III.</strong> Int. Ophthalmol. 19: 307-311, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8864816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8864816</a>] [<a href="https://doi.org/10.1007/BF00130927" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8864816">Pakarinen et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8864816" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (<a href="/entry/276900">276900</a>).</p><p><strong><em>Genetic Heterogeneity of Usher syndrome Type III</em></strong></p><p>
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Usher syndrome type IIIB (<a href="/entry/614504">614504</a>) is caused by mutation in the HARS gene (<a href="/entry/142810">142810</a>) on chromosome 5q31.3.</p>
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<strong>Clinical Features</strong>
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<p><a href="#10" class="mim-tip-reference" title="Karjalainen, S., Vartiainen, E., Terasvirta, M., Karja, J., Kaariainen, H. <strong>An unusual otological manifestation of Usher's syndrome in 4 siblings.</strong> Adv. Audiol. 3: 32-40, 1985."None>Karjalainen et al. (1985)</a> described this distinct type of Usher syndrome as being characterized by progressive hearing loss and vestibular hypoactivity. <a href="#17" class="mim-tip-reference" title="Smith, R. J. H., Pelias, M. Z., Daiger, S. P., Keats, B., Kimberling, W., Hejtmancik, J. F. <strong>Clinical variability and genetic heterogeneity within the Acadian Usher population.</strong> Am. J. Med. Genet. 43: 964-969, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415347</a>] [<a href="https://doi.org/10.1002/ajmg.1320430612" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1415347">Smith et al. (1992)</a> described a family in the French Acadian population of southwestern Louisiana in which 2 males had a clinical phenotype like that in the family reported by <a href="#10" class="mim-tip-reference" title="Karjalainen, S., Vartiainen, E., Terasvirta, M., Karja, J., Kaariainen, H. <strong>An unusual otological manifestation of Usher's syndrome in 4 siblings.</strong> Adv. Audiol. 3: 32-40, 1985."None>Karjalainen et al. (1985)</a>. Both Usher syndrome type I (<a href="/entry/276900">276900</a>) and Usher syndrome type II (<a href="/entry/276901">276901</a>) are frequent among the Louisiana Acadians but this family appeared to have a separate form. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1415347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" 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> studied the inner ear of a patient with type III Usher syndrome who died at age 52 of metastatic cancer. They found hair cell loss in the basal turn, severe loss of spiral ganglion cells, widespread neural degeneration in the cochlea, and discrete collections of degenerating supporting cells in the organ of Corti. The pattern of neural degeneration bore some similarity to abnormalities in the retina in retinitis pigmentosa. <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'})"><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="Aller, E., Jaijo, T., Oltra, S., Alio, J., Galan, F., Najera, C., Beneyto, M., Millan, J. M. <strong>Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.</strong> Clin. Genet. 66: 525-529, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15521980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15521980</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2004.00352.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15521980">Aller et al. (2004)</a> did not consider progressive hearing loss to be the definitive parameter in distinguishing Usher syndrome type III from Usher syndrome types I and II. They noted that 3 patients reported by <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> with a mutation in the CLRN1 gene (<a href="/entry/606397#0006">606397.0006</a>) had profound stable deafness and vestibular hyporeflexia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15521980+12080385" 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="Malm, E., Ponjavic, V., Moller, C., Kimberling, W. J., Andreasson, S. <strong>Phenotypes in defined genotypes including siblings with Usher syndrome.</strong> Ophthalmic Genet. 32: 65-74, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21174530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21174530</a>] [<a href="https://doi.org/10.3109/13816810.2010.536064" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21174530">Malm et al. (2011)</a> evaluated visual function, comprising both the severity of the rod cone degeneration and the function in the macular region, in 12 patients genotyped as Usher syndrome 1B, 1D, 1F, 2A, 2C, or 3A, including 3 families with affected sibs, and confirmed phenotypic heterogeneity between sibs with the same genotype and between patients with different genotypes. In all patients examined with ERG, the 30 Hz flicker response revealed remaining cone function. Optical coherence tomography (OCT) demonstrated loss of foveal depression with distortion of the foveal architecture in the macula of all patients. The foveal thickness ranged from 159 to 384 micrometers and was not correlated with retinal function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21174530" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Usher syndrome type III has been estimated to comprise 2% of all Usher syndrome cases; however, based on clinical criteria, 42% of patients with Usher syndrome in Finland are thought to have USH3, suggesting gene enrichment by a founder effect (Sankila et al. (<a href="#15" class="mim-tip-reference" title="Sankila, E.-M., Pakarinen, L., Sistonen, P., Aittomaki, K., Kaariainen, H., Karjalainen, S., de la Chapelle, A. <strong>The existence of Usher syndrome type III proven by assignment of its locus to chromosome 3q by linkage. (Abstract)</strong> Am. J. Hum. Genet. 55 (suppl.): A15 only, 1994."None>1994</a>, <a href="#14" class="mim-tip-reference" title="Sankila, E.-M., Pakarinen, L., Kaariainen, H., Aittomaki, K., Karjalainen, S., Sistonen, P., de la Chapelle, A. <strong>Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.</strong> Hum. Molec. Genet. 4: 93-98, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711740</a>] [<a href="https://doi.org/10.1093/hmg/4.1.93" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7711740">1995</a>)). <a href="#9" class="mim-tip-reference" title="Joensuu, T., Hamalainen, R., Yuan, B., Johnson, C., Tegelberg, S., Gasparini, P., Zelante, L., Pirvola, U., Parakinen, L., Lehesjoki, A.-E., de la Chapelle, A., Sankila, E.-M. <strong>Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.</strong> Am. J. Hum. Genet. 69: 673-684, 2001. Note: Erratum: Am. J. Hum. Genet. 69: 1160 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11524702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11524702</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11524702[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/323610" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11524702">Joensuu et al. (2001)</a> identified the Finnish founder mutation (<a href="/entry/606397#0001">606397.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7711740+11524702" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In Finnish families segregating Usher syndrome type III, Sankila et al. (<a href="#15" class="mim-tip-reference" title="Sankila, E.-M., Pakarinen, L., Sistonen, P., Aittomaki, K., Kaariainen, H., Karjalainen, S., de la Chapelle, A. <strong>The existence of Usher syndrome type III proven by assignment of its locus to chromosome 3q by linkage. (Abstract)</strong> Am. J. Hum. Genet. 55 (suppl.): A15 only, 1994."None>1994</a>, <a href="#14" class="mim-tip-reference" title="Sankila, E.-M., Pakarinen, L., Kaariainen, H., Aittomaki, K., Karjalainen, S., Sistonen, P., de la Chapelle, A. <strong>Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.</strong> Hum. Molec. Genet. 4: 93-98, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711740</a>] [<a href="https://doi.org/10.1093/hmg/4.1.93" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7711740">1995</a>) excluded previous chromosomal sites at which Usher syndrome had been mapped. Using highly polymorphic microsatellite markers for a systematic search for the USH3 locus by genetic linkage analyses of 11 multiply affected families, they assigned the disease locus to 3q21-q25. Of 20 parental disease chromosomes, 15 had identical alleles at 3 marker loci covering a 3-cM genetic distance, including the putative USH3 locus. They stated that this was the fifth distinctive form of Usher syndrome to be identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7711740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Joensuu, T., Blanco, G., Pakarinen, L., Sistonen, P., Kaariainen, H., Brown, S., de la Chapelle, A., Sankila, E.-M. <strong>Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region.</strong> Genomics 38: 255-263, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8975700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8975700</a>] [<a href="https://doi.org/10.1006/geno.1996.0626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8975700">Joensuu et al. (1996)</a> typed a total of 32 pedigrees from a geographically isolated Finnish founder population for polymorphisms in the USH3 region of chromosome 3. By analysis of linkage disequilibrium and historical recombinations in 77 USH3 chromosomes, the location of the Finnish USH3 mutation was narrowed to an interval of approximately 1 cM between markers D3S1299 and D3S3625. The profilin-2 gene (PFN2; <a href="/entry/176590">176590</a>) was mapped to the vicinity but was excluded as a candidate for USH3 by sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8975700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Gasparini, P., De Fazio, A., Croce, A. I., Stanziale, P., Zelante, L. <strong>Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.</strong> J. Med. Genet. 35: 666-667, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719374</a>] [<a href="https://doi.org/10.1136/jmg.35.8.666" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9719374">Gasparini et al. (1998)</a> reported linkage analysis of an Italian family with Usher syndrome type III and confirmed linkage at 3q24-q25 with a maximum lod score obtained with marker D3S1299 (maximum lod = 2.43 at theta = 0.00). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9719374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the 2 Finnish families reported by <a href="#14" class="mim-tip-reference" title="Sankila, E.-M., Pakarinen, L., Kaariainen, H., Aittomaki, K., Karjalainen, S., Sistonen, P., de la Chapelle, A. <strong>Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.</strong> Hum. Molec. Genet. 4: 93-98, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711740</a>] [<a href="https://doi.org/10.1093/hmg/4.1.93" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7711740">Sankila et al. (1995)</a> and <a href="#8" class="mim-tip-reference" title="Joensuu, T., Blanco, G., Pakarinen, L., Sistonen, P., Kaariainen, H., Brown, S., de la Chapelle, A., Sankila, E.-M. <strong>Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region.</strong> Genomics 38: 255-263, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8975700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8975700</a>] [<a href="https://doi.org/10.1006/geno.1996.0626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8975700">Joensuu et al. (1996)</a> and the Italian family reported by <a href="#6" class="mim-tip-reference" title="Gasparini, P., De Fazio, A., Croce, A. I., Stanziale, P., Zelante, L. <strong>Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.</strong> J. Med. Genet. 35: 666-667, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719374</a>] [<a href="https://doi.org/10.1136/jmg.35.8.666" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9719374">Gasparini et al. (1998)</a> with Usher syndrome type III, <a href="#9" class="mim-tip-reference" title="Joensuu, T., Hamalainen, R., Yuan, B., Johnson, C., Tegelberg, S., Gasparini, P., Zelante, L., Pirvola, U., Parakinen, L., Lehesjoki, A.-E., de la Chapelle, A., Sankila, E.-M. <strong>Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.</strong> Am. J. Hum. Genet. 69: 673-684, 2001. Note: Erratum: Am. J. Hum. Genet. 69: 1160 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11524702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11524702</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11524702[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/323610" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11524702">Joensuu et al. (2001)</a> identified mutations in the CLRN1 gene (<a href="/entry/606397#0001">606397.0001</a>-<a href="/entry/606397#0003">606397.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7711740+8975700+11524702+9719374" 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> studied a nonconsanguineous Jewish Yemenite family with 2 affected and 6 healthy sibs, 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>, in which the 2 affected brothers had different Usher syndrome phenotypes: one had typical USH3 phenotype, whereas the other had typical USH1 (<a href="/entry/276900">276900</a>) phenotype. <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> found a double mutation of the MYO7A gene (<a href="/entry/276903">276903</a>), which is responsible for USH1B, on 1 maternal chromosome in the brother with the more severe USH1 phenotype; the mother and 2 unaffected sibs also carried the double mutation. The authors suggested a possible synergistic interaction between MYO7A and the USH3 gene product that might increase the severity of the deafness as part of the clinical symptoms associated with USH3. In the course of their study of this family, <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> narrowed the assignment of the USH3 gene to the interval between D3S1299 and D3S3625. <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 this family and identified homozygosity for a 23-bp deletion of the CLRN1 gene (<a href="/entry/606397#0007">606397.0007</a>) in the 2 affected brothers with different Usher syndrome phenotypes. <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> noted that the mother and 2 sibs who carried only the double mutation in MYO7A were healthy, whereas in the context of a homozygous CLRN1-null mutation, the presence of 1 null mutation in the MYO7A gene mimicked haploinsufficiency, illustrating a departure from the monogenic model for Usher syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10364543+9382091+12080385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Fields, R. R., Zhou, G., Huang, D., Davis, J. R., Moller, C., Jacobson, S. G., Kimberling, W. J., Sumegi, J. <strong>Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.</strong> Am. J. Hum. Genet. 71: 607-617, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12145752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12145752</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12145752[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/342098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12145752">Fields et al. (2002)</a> described 4 novel disease-causing mutations in the CLRN1 gene, including one that appeared to be relatively common in the Ashkenazi Jewish population (N48K; <a href="/entry/606397#0004">606397.0004</a>). <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> detected the N48K missense mutation in 6 affected individuals from 4 unrelated families of Eastern European Jewish origin; shared microsatellite and SNP haplotypes on carrier chromosomes suggested the existence of a founder effect for this mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12080385+12145752" 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 cohort of 40 Ashkenazi Jewish patients with Usher syndrome, <a href="#12" class="mim-tip-reference" title="Ness, S. L., Ben-Yosef, T., Bar-Lev, A., Madeo, A. C., Brewer, C. C., Avraham, K. B., Kornreich, R., Desnick, R. J., Willner, J. P., Friedman, T. B., Griffith, A. J. <strong>Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.</strong> J. Med. Genet. 40: 767-772, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14569126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14569126</a>] [<a href="https://doi.org/10.1136/jmg.40.10.767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14569126">Ness et al. (2003)</a> found that the 16 (40%) who were clinically classified as having Usher syndrome type III were homozygous for the N48K mutation. The carrier frequency of N48K was 0.7% (95% CI, 0.0-1.6%) among Ashkenazi Jews in the New York area, with a predicted Usher syndrome type III prevalence of 1.2 per 100,000. Despite the genetic homogeneity of Usher syndrome type III in this group, there was a wide range of phenotypic severity displayed by the N48K homozygotes. Age at onset of the auditory phenotype varied from infancy to more than 35 years. A 56-year-old woman had onset of the ocular phenotype in early childhood ending with no useful vision, whereas hearing loss began after age 35 years, progressing to moderate to severe. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14569126" 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="Aller, E., Jaijo, T., Oltra, S., Alio, J., Galan, F., Najera, C., Beneyto, M., Millan, J. M. <strong>Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.</strong> Clin. Genet. 66: 525-529, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15521980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15521980</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2004.00352.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15521980">Aller et al. (2004)</a> screened for mutations in the CLRN1 gene in Spanish patients with Usher syndrome and found mutations in only 2 families. They identified 1 patient with Usher syndrome type III who was homozygous for a C40G mutation (<a href="/entry/606397#0008">606397.0008</a>). They noted that only 1 other mutation had been reported in the USH3A gene in Spanish families with Usher syndrome (<a href="/entry/606397#0006">606397.0006</a>). These 2 families accounted for only 1.7% of Spanish families with Usher syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15521980" 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="#7" class="mim-tip-reference" title="Geng, R., Geller, S. F., Hayashi, T., Ray, C. A., Reh, T. A., Bermingham-McDonogh, O., Jones, S. M., Wright, C. G., Melki, S., Imanishi, Y., Palczewski, K., Alagramam, K. N., Flannery, J. G. <strong>Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation.</strong> Hum. Molec. Genet. 18: 2748-2760, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19414487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19414487</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19414487[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp210" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19414487">Geng et al. (2009)</a> developed a Clrn1 -/- mouse model for Usher syndrome type III. Clrn1 was expressed as early as embryonic day 16.5 in the auditory and vestibular hair cells and associated ganglionic neurons, with its expression being higher in outer hair cells than inner hair cells. Clrn1 -/- mice showed early-onset hearing loss that rapidly progressed to severe levels. Two to 3 weeks after birth (postnatal day 14 to 21), Clrn1-null mice showed elevated auditory-evoked brainstem response (ABR) thresholds and prolonged peak and interpeak latencies. By postnatal day 21, approximately 70% of Clrn1-null mice had no detectable ABR, and by postnatal day 30, these mice were deaf. Distortion product otoacoustic emissions were not recordable from Clrn1 -/- mice. Vestibular function in Clrn1-null mice mirrored the cochlear phenotype, although it deteriorated more gradually than cochlear function. Disorganization of outer hair cell stereocilia was seen as early as postnatal day 2 and by postnatal day 21 outer hair cell loss was observed. <a href="#7" class="mim-tip-reference" title="Geng, R., Geller, S. F., Hayashi, T., Ray, C. A., Reh, T. A., Bermingham-McDonogh, O., Jones, S. M., Wright, C. G., Melki, S., Imanishi, Y., Palczewski, K., Alagramam, K. N., Flannery, J. G. <strong>Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation.</strong> Hum. Molec. Genet. 18: 2748-2760, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19414487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19414487</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19414487[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp210" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19414487">Geng et al. (2009)</a> concluded that CLRN1 is necessary for hair cell function and associated neural activation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19414487" 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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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: <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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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: <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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[<a href="https://doi.org/10.1038/sj.ejhg.5200831" target="_blank">Full Text</a>]
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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: <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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[<a href="https://doi.org/10.1086/514899" target="_blank">Full Text</a>]
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Aller, E., Jaijo, T., Oltra, S., Alio, J., Galan, F., Najera, C., Beneyto, M., Millan, J. M.
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<strong>Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.</strong>
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Clin. Genet. 66: 525-529, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15521980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15521980</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15521980" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2004.00352.x" target="_blank">Full Text</a>]
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Fields, R. R., Zhou, G., Huang, D., Davis, J. R., Moller, C., Jacobson, S. G., Kimberling, W. J., Sumegi, J.
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<strong>Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.</strong>
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Am. J. Hum. Genet. 71: 607-617, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12145752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12145752</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12145752[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12145752" 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/10.1086/342098" target="_blank">Full Text</a>]
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Gasparini, P., De Fazio, A., Croce, A. I., Stanziale, P., Zelante, L.
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<strong>Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.</strong>
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J. Med. Genet. 35: 666-667, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719374</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9719374" 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.35.8.666" target="_blank">Full Text</a>]
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Geng, R., Geller, S. F., Hayashi, T., Ray, C. A., Reh, T. A., Bermingham-McDonogh, O., Jones, S. M., Wright, C. G., Melki, S., Imanishi, Y., Palczewski, K., Alagramam, K. N., Flannery, J. G.
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<strong>Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation.</strong>
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Hum. Molec. Genet. 18: 2748-2760, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19414487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19414487</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19414487[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19414487" 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/10.1093/hmg/ddp210" target="_blank">Full Text</a>]
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Joensuu, T., Blanco, G., Pakarinen, L., Sistonen, P., Kaariainen, H., Brown, S., de la Chapelle, A., Sankila, E.-M.
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<strong>Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region.</strong>
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Genomics 38: 255-263, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8975700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8975700</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8975700" 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.1996.0626" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Joensuu2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Joensuu, T., Hamalainen, R., Yuan, B., Johnson, C., Tegelberg, S., Gasparini, P., Zelante, L., Pirvola, U., Parakinen, L., Lehesjoki, A.-E., de la Chapelle, A., Sankila, E.-M.
|
|
<strong>Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.</strong>
|
|
Am. J. Hum. Genet. 69: 673-684, 2001. Note: Erratum: Am. J. Hum. Genet. 69: 1160 only, 2001.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11524702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11524702</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11524702[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11524702" 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/10.1086/323610" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Karjalainen1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Karjalainen, S., Vartiainen, E., Terasvirta, M., Karja, J., Kaariainen, H.
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|
<strong>An unusual otological manifestation of Usher's syndrome in 4 siblings.</strong>
|
|
Adv. Audiol. 3: 32-40, 1985.
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Malm2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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.
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|
|
[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>]
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[<a href="https://doi.org/10.3109/13816810.2010.536064" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Ness2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ness, S. L., Ben-Yosef, T., Bar-Lev, A., Madeo, A. C., Brewer, C. C., Avraham, K. B., Kornreich, R., Desnick, R. J., Willner, J. P., Friedman, T. B., Griffith, A. J.
|
|
<strong>Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.</strong>
|
|
J. Med. Genet. 40: 767-772, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14569126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14569126</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14569126" 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.40.10.767" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Pakarinen1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pakarinen, L., Tuppurainen, K., Laippala, P., Mantyjarvi, M., Puhakka, H.
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<strong>The ophthalmological course of Usher syndrome type III.</strong>
|
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Int. Ophthalmol. 19: 307-311, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8864816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8864816</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8864816" 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/BF00130927" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Sankila1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sankila, E.-M., Pakarinen, L., Kaariainen, H., Aittomaki, K., Karjalainen, S., Sistonen, P., de la Chapelle, A.
|
|
<strong>Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.</strong>
|
|
Hum. Molec. Genet. 4: 93-98, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711740</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7711740" 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/10.1093/hmg/4.1.93" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Sankila1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sankila, E.-M., Pakarinen, L., Sistonen, P., Aittomaki, K., Kaariainen, H., Karjalainen, S., de la Chapelle, A.
|
|
<strong>The existence of Usher syndrome type III proven by assignment of its locus to chromosome 3q by linkage. (Abstract)</strong>
|
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Am. J. Hum. Genet. 55 (suppl.): A15 only, 1994.
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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Shinkawa1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shinkawa, H., Nadol, J. B., Jr.
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<strong>Histopathology of the inner ear in Usher's syndrome as observed by light and electron microscopy.</strong>
|
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Ann. Otol. Rhinol. Laryng. 95: 313-318, 1986.
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[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>]
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[<a href="https://doi.org/10.1177/000348948609500321" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Smith1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Smith, R. J. H., Pelias, M. Z., Daiger, S. P., Keats, B., Kimberling, W., Hejtmancik, J. F.
|
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<strong>Clinical variability and genetic heterogeneity within the Acadian Usher population.</strong>
|
|
Am. J. Med. Genet. 43: 964-969, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415347</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1415347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320430612" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 2/28/2012
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Jane Kelly - updated : 8/26/2011<br>Marla J. F. O'Neill - updated : 5/3/2011<br>George E. Tiller - updated : 6/30/2010<br>Victor A. McKusick - updated : 4/4/2005<br>Michael B. Petersen - updated : 2/11/2003<br>Carol A. Bocchini - reorganized : 10/18/2001<br>Deborah L. Stone - updated : 10/18/2001<br>Victor A. McKusick - updated : 6/28/1999<br>Michael J. Wright - updated : 11/16/1998<br>Victor A. McKusick - updated : 2/4/1997
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 9/2/1992
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/20/2015
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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 : 4/15/2014<br>carol : 2/28/2012<br>carol : 8/29/2011<br>terry : 8/26/2011<br>carol : 8/19/2011<br>terry : 8/16/2011<br>terry : 5/24/2011<br>carol : 5/5/2011<br>carol : 5/5/2011<br>terry : 5/3/2011<br>wwang : 6/30/2010<br>alopez : 1/26/2006<br>carol : 4/4/2005<br>cwells : 11/10/2003<br>cwells : 2/11/2003<br>terry : 6/27/2002<br>mcapotos : 12/21/2001<br>carol : 10/18/2001<br>carol : 10/18/2001<br>carol : 7/15/1999<br>jlewis : 7/15/1999<br>terry : 6/30/1999<br>terry : 6/28/1999<br>alopez : 12/8/1998<br>terry : 11/16/1998<br>jenny : 2/4/1997<br>jenny : 2/4/1997<br>terry : 1/21/1997<br>carol : 2/6/1995<br>terry : 11/18/1994<br>mimadm : 3/12/1994<br>carol : 11/5/1993<br>carol : 1/7/1993<br>carol : 10/9/1992
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 276902
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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USHER SYNDROME, TYPE IIIA; USH3A
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
USHER SYNDROME, TYPE III; USH3
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 231183, 886;
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|
<strong>DO:</strong> 0110841;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
|
Gene/Locus
|
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
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|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
3q25.1
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Usher syndrome, type 3A
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
276902
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
CLRN1
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
606397
|
|
</span>
|
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</td>
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because Usher syndrome type IIIA (USH3A) is caused by homozygous or compound heterozygous mutation in the CLRN1 gene (606397) on chromosome 3q25.</p><p>Mutation in the same gene can cause a form of nonsyndromic retinitis pigmentosa (RP61; 614180).</p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995). </p><p>For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (276900).</p><p><strong><em>Genetic Heterogeneity of Usher syndrome Type III</em></strong></p><p>
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Usher syndrome type IIIB (614504) is caused by mutation in the HARS gene (142810) on chromosome 5q31.3.</p>
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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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<span class="mim-text-font">
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<p>Karjalainen et al. (1985) described this distinct type of Usher syndrome as being characterized by progressive hearing loss and vestibular hypoactivity. Smith et al. (1992) described a family in the French Acadian population of southwestern Louisiana in which 2 males had a clinical phenotype like that in the family reported by Karjalainen et al. (1985). Both Usher syndrome type I (276900) and Usher syndrome type II (276901) are frequent among the Louisiana Acadians but this family appeared to have a separate form. </p><p>Shinkawa and Nadol (1986) studied the inner ear of a patient with type III Usher syndrome who died at age 52 of metastatic cancer. They found hair cell loss in the basal turn, severe loss of spiral ganglion cells, widespread neural degeneration in the cochlea, and discrete collections of degenerating supporting cells in the organ of Corti. The pattern of neural degeneration bore some similarity to abnormalities in the retina in retinitis pigmentosa. </p><p>Aller et al. (2004) did not consider progressive hearing loss to be the definitive parameter in distinguishing Usher syndrome type III from Usher syndrome types I and II. They noted that 3 patients reported by Adato et al. (2002) with a mutation in the CLRN1 gene (606397.0006) had profound stable deafness and vestibular hyporeflexia. </p><p>Malm et al. (2011) evaluated visual function, comprising both the severity of the rod cone degeneration and the function in the macular region, in 12 patients genotyped as Usher syndrome 1B, 1D, 1F, 2A, 2C, or 3A, including 3 families with affected sibs, and confirmed phenotypic heterogeneity between sibs with the same genotype and between patients with different genotypes. In all patients examined with ERG, the 30 Hz flicker response revealed remaining cone function. Optical coherence tomography (OCT) demonstrated loss of foveal depression with distortion of the foveal architecture in the macula of all patients. The foveal thickness ranged from 159 to 384 micrometers and was not correlated with retinal function. </p>
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</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>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>Usher syndrome type III has been estimated to comprise 2% of all Usher syndrome cases; however, based on clinical criteria, 42% of patients with Usher syndrome in Finland are thought to have USH3, suggesting gene enrichment by a founder effect (Sankila et al. (1994, 1995)). Joensuu et al. (2001) identified the Finnish founder mutation (606397.0001). </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>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In Finnish families segregating Usher syndrome type III, Sankila et al. (1994, 1995) excluded previous chromosomal sites at which Usher syndrome had been mapped. Using highly polymorphic microsatellite markers for a systematic search for the USH3 locus by genetic linkage analyses of 11 multiply affected families, they assigned the disease locus to 3q21-q25. Of 20 parental disease chromosomes, 15 had identical alleles at 3 marker loci covering a 3-cM genetic distance, including the putative USH3 locus. They stated that this was the fifth distinctive form of Usher syndrome to be identified. </p><p>Joensuu et al. (1996) typed a total of 32 pedigrees from a geographically isolated Finnish founder population for polymorphisms in the USH3 region of chromosome 3. By analysis of linkage disequilibrium and historical recombinations in 77 USH3 chromosomes, the location of the Finnish USH3 mutation was narrowed to an interval of approximately 1 cM between markers D3S1299 and D3S3625. The profilin-2 gene (PFN2; 176590) was mapped to the vicinity but was excluded as a candidate for USH3 by sequencing. </p><p>Gasparini et al. (1998) reported linkage analysis of an Italian family with Usher syndrome type III and confirmed linkage at 3q24-q25 with a maximum lod score obtained with marker D3S1299 (maximum lod = 2.43 at theta = 0.00). </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In the 2 Finnish families reported by Sankila et al. (1995) and Joensuu et al. (1996) and the Italian family reported by Gasparini et al. (1998) with Usher syndrome type III, Joensuu et al. (2001) identified mutations in the CLRN1 gene (606397.0001-606397.0003). </p><p>Adato et al. (1999) studied a nonconsanguineous Jewish Yemenite family with 2 affected and 6 healthy sibs, originally reported by Adato et al. (1997), in which the 2 affected brothers had different Usher syndrome phenotypes: one had typical USH3 phenotype, whereas the other had typical USH1 (276900) phenotype. Adato et al. (1999) found a double mutation of the MYO7A gene (276903), which is responsible for USH1B, on 1 maternal chromosome in the brother with the more severe USH1 phenotype; the mother and 2 unaffected sibs also carried the double mutation. The authors suggested a possible synergistic interaction between MYO7A and the USH3 gene product that might increase the severity of the deafness as part of the clinical symptoms associated with USH3. In the course of their study of this family, Adato et al. (1999) narrowed the assignment of the USH3 gene to the interval between D3S1299 and D3S3625. Adato et al. (2002) restudied this family and identified homozygosity for a 23-bp deletion of the CLRN1 gene (606397.0007) in the 2 affected brothers with different Usher syndrome phenotypes. Adato et al. (2002) noted that the mother and 2 sibs who carried only the double mutation in MYO7A were healthy, whereas in the context of a homozygous CLRN1-null mutation, the presence of 1 null mutation in the MYO7A gene mimicked haploinsufficiency, illustrating a departure from the monogenic model for Usher syndrome. </p><p>Fields et al. (2002) described 4 novel disease-causing mutations in the CLRN1 gene, including one that appeared to be relatively common in the Ashkenazi Jewish population (N48K; 606397.0004). Adato et al. (2002) detected the N48K missense mutation in 6 affected individuals from 4 unrelated families of Eastern European Jewish origin; shared microsatellite and SNP haplotypes on carrier chromosomes suggested the existence of a founder effect for this mutation. </p><p>In a cohort of 40 Ashkenazi Jewish patients with Usher syndrome, Ness et al. (2003) found that the 16 (40%) who were clinically classified as having Usher syndrome type III were homozygous for the N48K mutation. The carrier frequency of N48K was 0.7% (95% CI, 0.0-1.6%) among Ashkenazi Jews in the New York area, with a predicted Usher syndrome type III prevalence of 1.2 per 100,000. Despite the genetic homogeneity of Usher syndrome type III in this group, there was a wide range of phenotypic severity displayed by the N48K homozygotes. Age at onset of the auditory phenotype varied from infancy to more than 35 years. A 56-year-old woman had onset of the ocular phenotype in early childhood ending with no useful vision, whereas hearing loss began after age 35 years, progressing to moderate to severe. </p><p>Aller et al. (2004) screened for mutations in the CLRN1 gene in Spanish patients with Usher syndrome and found mutations in only 2 families. They identified 1 patient with Usher syndrome type III who was homozygous for a C40G mutation (606397.0008). They noted that only 1 other mutation had been reported in the USH3A gene in Spanish families with Usher syndrome (606397.0006). These 2 families accounted for only 1.7% of Spanish families with Usher syndrome. </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>Animal Model</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>Geng et al. (2009) developed a Clrn1 -/- mouse model for Usher syndrome type III. Clrn1 was expressed as early as embryonic day 16.5 in the auditory and vestibular hair cells and associated ganglionic neurons, with its expression being higher in outer hair cells than inner hair cells. Clrn1 -/- mice showed early-onset hearing loss that rapidly progressed to severe levels. Two to 3 weeks after birth (postnatal day 14 to 21), Clrn1-null mice showed elevated auditory-evoked brainstem response (ABR) thresholds and prolonged peak and interpeak latencies. By postnatal day 21, approximately 70% of Clrn1-null mice had no detectable ABR, and by postnatal day 30, these mice were deaf. Distortion product otoacoustic emissions were not recordable from Clrn1 -/- mice. Vestibular function in Clrn1-null mice mirrored the cochlear phenotype, although it deteriorated more gradually than cochlear function. Disorganization of outer hair cell stereocilia was seen as early as postnatal day 2 and by postnatal day 21 outer hair cell loss was observed. Geng et al. (2009) concluded that CLRN1 is necessary for hair cell function and associated neural activation. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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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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<p class="mim-text-font">
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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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<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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Aller, E., Jaijo, T., Oltra, S., Alio, J., Galan, F., Najera, C., Beneyto, M., Millan, J. M.
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<strong>Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.</strong>
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Clin. Genet. 66: 525-529, 2004.
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<p class="mim-text-font">
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Fields, R. R., Zhou, G., Huang, D., Davis, J. R., Moller, C., Jacobson, S. G., Kimberling, W. J., Sumegi, J.
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<strong>Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.</strong>
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Am. J. Hum. Genet. 71: 607-617, 2002.
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<p class="mim-text-font">
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Gasparini, P., De Fazio, A., Croce, A. I., Stanziale, P., Zelante, L.
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<strong>Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.</strong>
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J. Med. Genet. 35: 666-667, 1998.
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[PubMed: 9719374]
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Geng, R., Geller, S. F., Hayashi, T., Ray, C. A., Reh, T. A., Bermingham-McDonogh, O., Jones, S. M., Wright, C. G., Melki, S., Imanishi, Y., Palczewski, K., Alagramam, K. N., Flannery, J. G.
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<strong>Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation.</strong>
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Hum. Molec. Genet. 18: 2748-2760, 2009.
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[Full Text: https://doi.org/10.1093/hmg/ddp210]
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<p class="mim-text-font">
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Joensuu, T., Blanco, G., Pakarinen, L., Sistonen, P., Kaariainen, H., Brown, S., de la Chapelle, A., Sankila, E.-M.
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<strong>Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region.</strong>
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Genomics 38: 255-263, 1996.
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[PubMed: 8975700]
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<p class="mim-text-font">
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Joensuu, T., Hamalainen, R., Yuan, B., Johnson, C., Tegelberg, S., Gasparini, P., Zelante, L., Pirvola, U., Parakinen, L., Lehesjoki, A.-E., de la Chapelle, A., Sankila, E.-M.
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<strong>Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.</strong>
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Am. J. Hum. Genet. 69: 673-684, 2001. Note: Erratum: Am. J. Hum. Genet. 69: 1160 only, 2001.
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Karjalainen, S., Vartiainen, E., Terasvirta, M., Karja, J., Kaariainen, H.
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<strong>An unusual otological manifestation of Usher's syndrome in 4 siblings.</strong>
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Adv. Audiol. 3: 32-40, 1985.
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Malm, E., Ponjavic, V., Moller, C., Kimberling, W. J., Andreasson, S.
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<strong>Phenotypes in defined genotypes including siblings with Usher syndrome.</strong>
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Ophthalmic Genet. 32: 65-74, 2011.
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[PubMed: 21174530]
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[Full Text: https://doi.org/10.3109/13816810.2010.536064]
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</p>
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<li>
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<p class="mim-text-font">
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Ness, S. L., Ben-Yosef, T., Bar-Lev, A., Madeo, A. C., Brewer, C. C., Avraham, K. B., Kornreich, R., Desnick, R. J., Willner, J. P., Friedman, T. B., Griffith, A. J.
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<strong>Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.</strong>
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J. Med. Genet. 40: 767-772, 2003.
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[PubMed: 14569126]
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[Full Text: https://doi.org/10.1136/jmg.40.10.767]
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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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Pakarinen, L., Tuppurainen, K., Laippala, P., Mantyjarvi, M., Puhakka, H.
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<strong>The ophthalmological course of Usher syndrome type III.</strong>
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Int. Ophthalmol. 19: 307-311, 1995.
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[PubMed: 8864816]
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[Full Text: https://doi.org/10.1007/BF00130927]
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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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Sankila, E.-M., Pakarinen, L., Kaariainen, H., Aittomaki, K., Karjalainen, S., Sistonen, P., de la Chapelle, A.
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<strong>Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.</strong>
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Hum. Molec. Genet. 4: 93-98, 1995.
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[PubMed: 7711740]
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[Full Text: https://doi.org/10.1093/hmg/4.1.93]
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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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Sankila, E.-M., Pakarinen, L., Sistonen, P., Aittomaki, K., Kaariainen, H., Karjalainen, S., de la Chapelle, A.
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<strong>The existence of Usher syndrome type III proven by assignment of its locus to chromosome 3q by linkage. (Abstract)</strong>
|
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Am. J. Hum. Genet. 55 (suppl.): A15 only, 1994.
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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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Shinkawa, H., Nadol, J. B., Jr.
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<strong>Histopathology of the inner ear in Usher's syndrome as observed by light and electron microscopy.</strong>
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Ann. Otol. Rhinol. Laryng. 95: 313-318, 1986.
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[PubMed: 3717858]
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[Full Text: https://doi.org/10.1177/000348948609500321]
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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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Smith, R. J. H., Pelias, M. Z., Daiger, S. P., Keats, B., Kimberling, W., Hejtmancik, J. F.
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<strong>Clinical variability and genetic heterogeneity within the Acadian Usher population.</strong>
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Am. J. Med. Genet. 43: 964-969, 1992.
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[PubMed: 1415347]
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[Full Text: https://doi.org/10.1002/ajmg.1320430612]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 2/28/2012<br>Jane Kelly - updated : 8/26/2011<br>Marla J. F. O'Neill - updated : 5/3/2011<br>George E. Tiller - updated : 6/30/2010<br>Victor A. McKusick - updated : 4/4/2005<br>Michael B. Petersen - updated : 2/11/2003<br>Carol A. Bocchini - reorganized : 10/18/2001<br>Deborah L. Stone - updated : 10/18/2001<br>Victor A. McKusick - updated : 6/28/1999<br>Michael J. Wright - updated : 11/16/1998<br>Victor A. McKusick - updated : 2/4/1997
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</span>
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</div>
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Victor A. McKusick : 9/2/1992
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carol : 08/20/2015<br>carol : 4/15/2014<br>carol : 2/28/2012<br>carol : 8/29/2011<br>terry : 8/26/2011<br>carol : 8/19/2011<br>terry : 8/16/2011<br>terry : 5/24/2011<br>carol : 5/5/2011<br>carol : 5/5/2011<br>terry : 5/3/2011<br>wwang : 6/30/2010<br>alopez : 1/26/2006<br>carol : 4/4/2005<br>cwells : 11/10/2003<br>cwells : 2/11/2003<br>terry : 6/27/2002<br>mcapotos : 12/21/2001<br>carol : 10/18/2001<br>carol : 10/18/2001<br>carol : 7/15/1999<br>jlewis : 7/15/1999<br>terry : 6/30/1999<br>terry : 6/28/1999<br>alopez : 12/8/1998<br>terry : 11/16/1998<br>jenny : 2/4/1997<br>jenny : 2/4/1997<br>terry : 1/21/1997<br>carol : 2/6/1995<br>terry : 11/18/1994<br>mimadm : 3/12/1994<br>carol : 11/5/1993<br>carol : 1/7/1993<br>carol : 10/9/1992
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