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<title>
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Entry
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- *603550 - EYA TRANSCRIPTIONAL COACTIVATOR AND PHOSPHATASE 4; EYA4
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- OMIM
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</li>
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</ul>
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="row">
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<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
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<div class="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<li role="separator" class="divider"></li>
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<a href="/history"> Search History </a>
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</ul>
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</div>
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</div>
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<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
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</div>
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<span class="small">
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</form>
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<div class="row">
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<p />
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</div>
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<div id="mimAlertBanner">
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</div>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603550</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603550">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
|
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
|
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</div>
|
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</a>
|
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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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="mimGenome">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
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</a>
|
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</span>
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</span>
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</div>
|
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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|
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000112319;t=ENST00000355286" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=2070" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=603550" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
|
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</div>
|
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</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="mimDna">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
|
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</a>
|
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000112319;t=ENST00000355286" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001301012,NM_001301013,NM_001370458,NM_001370459,NM_004100,NM_172103,NM_172105,XM_005266851,XM_017010368,XM_017010369,XM_017010371,XM_017010373,XM_017010374,XM_047418275,XM_047418276,XM_047418277,XM_047418278,XM_047418279,XM_047418280,XM_047418281,XM_047418282,XM_047418283,XM_047418284,XM_047418285,XM_047418286,XM_047418287,XM_047418288,XR_001743219,XR_001743220,XR_007059221" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_004100" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=603550" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
|
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</div>
|
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</div>
|
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</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="mimProtein">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
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</a>
|
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</span>
|
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</span>
|
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</div>
|
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=04648&isoform_id=04648_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/EYA4" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/4160552,4160554,4376032,4376033,26667257,26996755,40226477,71153518,98991760,98991763,119568389,119568390,119568391,194381328,194387910,221043832,530383433,666335560,666335566,957949329,957949332,1034648800,1034648802,1034648807,1034648812,1034648814,1635381447,1635381449,2217359919,2217359922,2217359924,2217359926,2217359928,2217359930,2217359932,2217359934,2217359936,2217359938,2217359940,2217359944,2217359946,2217359948,2462606442,2462606444,2462606446,2462606448,2462606450,2462606452,2462606454,2462606456,2462606458,2462606460,2462606462,2462606464,2462606466,2462606468,2462606470,2462606472,2462606474,2462606476,2462606478,2462606480,2462606482" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/O95677" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</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="mimGeneInfo">
|
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<span class="panel-title">
|
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=2070" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000112319;t=ENST00000355286" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=EYA4" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=EYA4" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+2070" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/EYA4" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:2070" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/2070" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr6&hgg_gene=ENST00000355286.12&hgg_start=133240593&hgg_end=133532128&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</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="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3522" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:3522" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603550[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>
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</div>
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</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="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603550[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/EYA4/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000112319" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=EYA4" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=EYA4" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=EYA4" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://webh01.ua.ac.be/hhh/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=EYA4&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA27934" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</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="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:3522" 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="https://flybase.org/reports/FBgn0000320.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1337104" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/EYA4#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1337104" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/2070/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=2070" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00001377;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050327-93" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</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="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=EYA4&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></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>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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603550
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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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EYA TRANSCRIPTIONAL COACTIVATOR AND PHOSPHATASE 4; EYA4
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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EYES ABSENT 4<br />
|
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EYES ABSENT, DROSOPHILA, HOMOLOG OF, 4
|
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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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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=EYA4" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">EYA4</a></em></strong>
|
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/6/874?start=-3&limit=10&highlight=874">6q23.2</a>
|
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:133240593-133532128&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">6:133,240,593-133,532,128</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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6q23.2
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?Cardiomyopathy, dilated, 1J
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Deafness, autosomal dominant 10
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<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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<p><a href="#1" class="mim-tip-reference" title="Borsani, G., DeGrandi, A., Ballabio, A., Bulfone, A., Bernard, L., Banfi, S., Gattuso, C., Mariani, M., Dixon, M., Donnai, D., Metcalfe, K., Winter, R., Robertson, M., Axton, R., Brown, A., van Heyningen, V., Hanson, I. <strong>EYA4, a novel vertebrate gene related to Drosophila eyes absent.</strong> Hum. Molec. Genet. 8: 11-23, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9887327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9887327</a>] [<a href="https://doi.org/10.1093/hmg/8.1.11" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9887327">Borsani et al. (1999)</a> presented the detailed characterization of a fourth vertebrate gene, designated EYA4, that is homologous to 'eyes absent' (eya), a key regulator of ocular development in Drosophila. See also EYA1 (<a href="/entry/601653">601653</a>), EYA2 (<a href="/entry/601654">601654</a>), and EYA3 (<a href="/entry/601655">601655</a>). The authors found that EYA4 encodes a 640-amino acid protein containing a highly conserved C-terminal domain of 271 amino acids, which has been designated the eya-homologous region (eya-HR) or eya domain. In Drosophila, eya is known to mediate developmentally important protein-protein interactions. In the developing mouse embryo, Eya4 was expressed primarily in the craniofacial mesenchyme, the dermamyotome, and the limb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9887327" 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="#5" class="mim-tip-reference" title="Okabe, Y., Sano, T., Nagata, S. <strong>Regulation of the innate immune response by threonine-phosphatase of Eyes absent.</strong> Nature 460: 520-524, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19561593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19561593</a>] [<a href="https://doi.org/10.1038/nature08138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19561593">Okabe et al. (2009)</a> found that mouse Eya4, which was originally identified as a cotranscription factor, stimulated expression of Ifnb (<a href="/entry/147640">147640</a>) and Cxcl10 (<a href="/entry/147310">147310</a>) in response to the undigested DNA of apoptotic cells. Eya4 enhanced the innate immune response against Newcastle disease virus and vesicular stomatitis virus, and it could associate with the signaling molecules Ips1 (<a href="/entry/609676">609676</a>), Sting (TMEM173; <a href="/entry/612374">612374</a>), and Nlrx1 (<a href="/entry/611947">611947</a>). <a href="#5" class="mim-tip-reference" title="Okabe, Y., Sano, T., Nagata, S. <strong>Regulation of the innate immune response by threonine-phosphatase of Eyes absent.</strong> Nature 460: 520-524, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19561593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19561593</a>] [<a href="https://doi.org/10.1038/nature08138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19561593">Okabe et al. (2009)</a> showed that mouse EYA family members acted as phosphatases for both phosphotyrosine and phosphothreonine. The haloacid dehalogenase domain at the C terminus of Eya4 contained the tyrosine-phosphatase activity, and the N-terminal half carried the threonine-phosphatase activity. Mutations of the threonine-phosphatase, but not the tyrosine-phosphatase, abolished the ability of Eya4 to enhance the innate immune response, suggesting that EYA proteins regulate the innate immune response by modulating the phosphorylation state of signal transducers for intracellular pathogens. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19561593" 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>By radiation hybrid analysis and fluorescence in situ hybridization, <a href="#1" class="mim-tip-reference" title="Borsani, G., DeGrandi, A., Ballabio, A., Bulfone, A., Bernard, L., Banfi, S., Gattuso, C., Mariani, M., Dixon, M., Donnai, D., Metcalfe, K., Winter, R., Robertson, M., Axton, R., Brown, A., van Heyningen, V., Hanson, I. <strong>EYA4, a novel vertebrate gene related to Drosophila eyes absent.</strong> Hum. Molec. Genet. 8: 11-23, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9887327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9887327</a>] [<a href="https://doi.org/10.1093/hmg/8.1.11" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9887327">Borsani et al. (1999)</a> mapped the human EYA4 gene to 6q23. They also detected linkage, with a lod score of greater than 3, to previously mapped reference markers. They genetically mapped the mouse Eya4 gene to chromosome 10 in the vicinity of Aco2 (<a href="/entry/100850">100850</a>), in a region homologous to human chromosome 6q22-q23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9887327" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Autosomal Dominant Deafness 10</em></strong></p><p>
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In an American and a Belgian family with autosomal dominant nonsyndromic postlingual progressive hearing loss mapping to the DFNA10 locus (<a href="/entry/601316">601316</a>), <a href="#8" class="mim-tip-reference" title="Wayne, S., Robertson, N. G., DeClau, F., Chen, N., Verhoeven, K., Prasad, S., Tranebjarg, L., Morton, C. C., Ryan, A. F., Van Camp, G., Smith, R. J. H. <strong>Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.</strong> Hum. Molec. Genet. 10: 195-200, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11159937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11159937</a>] [<a href="https://doi.org/10.1093/hmg/10.3.195" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11159937">Wayne et al. (2001)</a> identified 2 different mutations in the EYA4 gene (<a href="#0001">603550.0001</a> and <a href="#0002">603550.0002</a>, respectively). Just as EYA proteins interact with members of the SIX (<a href="/entry/601205">601205</a>) and DACH (<a href="/entry/603803">603803</a>) protein families during early embryonic development, the authors suggested that EYA4 is also important postdevelopmentally for continued function of the mature organ of Corti. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11159937" 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 family segregating autosomal dominant nonsyndromic postlingual progressive sensorineural hearing loss (SNHL), <a href="#4" class="mim-tip-reference" title="Makishima, T., Madeo, A. C., Brewer, C. C., Zalewski, C. K., Butman, J. A., Sachdev, V., Arai, A. E., Holbrook, B. M., Rosing, D. R., Griffith, A. J. <strong>Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.</strong> Am. J. Med. Genet. 143A: 1592-1598, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17567890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17567890</a>] [<a href="https://doi.org/10.1002/ajmg.a.31793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17567890">Makishima et al. (2007)</a> identified a heterozygous 2-bp insertion (<a href="#0004">603550.0004</a>) in the EYA4 gene. Noting that the 3 EYA4 mutations reported to date causing nonsyndromic SNHL are predicted to encode truncated EYA proteins with a deleted Eya domain but an intact variable domain, whereas the deletion (<a href="#0003">603550.0003</a>) causing syndromic hearing loss with DCM partially truncates the variable domain of the protein as well, <a href="#4" class="mim-tip-reference" title="Makishima, T., Madeo, A. C., Brewer, C. C., Zalewski, C. K., Butman, J. A., Sachdev, V., Arai, A. E., Holbrook, B. M., Rosing, D. R., Griffith, A. J. <strong>Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.</strong> Am. J. Med. Genet. 143A: 1592-1598, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17567890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17567890</a>] [<a href="https://doi.org/10.1002/ajmg.a.31793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17567890">Makishima et al. (2007)</a> proposed a correlation between EYA4 mutation position and the presence or absence of DCM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17567890" 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 5-generation Australian family with nonsyndromic SNHL, <a href="#3" class="mim-tip-reference" title="Hildebrand, M. S., Coman, D., Yang, T., Gardner, R. J. M., Rose, E., Smith, R. J. H., Bahlo, M., Dahl, H.-H. M. <strong>A novel splice site mutation in EYA4 causes DFNA10 hearing loss.</strong> Am. J. Med. Genet. 143A: 1599-1604, 2007. Note: Erratum: Am. J. Med. Genet. 146A: 1099 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17568404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17568404</a>] [<a href="https://doi.org/10.1002/ajmg.a.31860" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17568404">Hildebrand et al. (2007)</a> identified heterozygosity for a splice site mutation (<a href="#0005">603550.0005</a>) in the EYA4 gene, predicted to cause a frameshift affecting the C-terminal eya-HR domain (residues 369-639). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17568404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Dilated Cardiomyopathy with Sensorineural Hearing Loss, Autosomal Dominant</em></strong></p><p>
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In affected members of a kindred (MCE) with dilated cardiomyopathy (DCM) and heart failure preceded by sensorineural hearing loss mapping to 6q23-q24 (CMD1J; <a href="/entry/605362">605362</a>) previously described by <a href="#6" class="mim-tip-reference" title="Schonberger, J., Levy, H., Grunig, E., Sangwatanaroj, S., Fatkin, D., MacRae, C., Stacker, H., Halpin, C., Eavey, R., Philbin, E. F., Katus, H., Seidman, J. G., Seidman, C. E. <strong>Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24.</strong> Circulation 101: 1812-1818, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10769282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10769282</a>] [<a href="https://doi.org/10.1161/01.cir.101.15.1812" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10769282">Schonberger et al. (2000)</a>, <a href="#7" class="mim-tip-reference" title="Schonberger, J., Wang, L., Shin, J. T., Kim, S. D., Depreux, F. F. S., Zhu, H., Zon, L., Pizard, A., Kim, J. B., MacRae, C. A., Mungall, A. J., Seidman, J. G., Seidman, C. E. <strong>Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.</strong> Nature Genet. 37: 418-422, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15735644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15735644</a>] [<a href="https://doi.org/10.1038/ng1527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15735644">Schonberger et al. (2005)</a> identified a large deletion in the EYA4 gene (<a href="#0003">603550.0003</a>) resulting in a truncated protein that they designated E193. Analysis of biochemical interactions of E193 and of E342 (<a href="#0001">603550.0001</a>), the shortest mutant protein associated with nonsyndromic hearing loss, revealed that E342 retained partial function, binding wildtype EYA4 and associating with SIX proteins, whereas E193 did not. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15735644+10769282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>To elucidate the role of EYA4 in heart function, <a href="#7" class="mim-tip-reference" title="Schonberger, J., Wang, L., Shin, J. T., Kim, S. D., Depreux, F. F. S., Zhu, H., Zon, L., Pizard, A., Kim, J. B., MacRae, C. A., Mungall, A. J., Seidman, J. G., Seidman, C. E. <strong>Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.</strong> Nature Genet. 37: 418-422, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15735644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15735644</a>] [<a href="https://doi.org/10.1038/ng1527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15735644">Schonberger et al. (2005)</a> studied zebrafish embryos injected with antisense morpholino oligonucleotides and found that attenuated Eya4 transcript levels produced morphologic and hemodynamic features of heart failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15735644" 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="#2" class="mim-tip-reference" title="Depreux, F. F. S., Darrow, K., Conner, D. A., Eavey, R. D., Liberman, M. C., Seidman, C. E., Seidman, J. G. <strong>Eya4-deficient mice are a model for heritable otitis media.</strong> J. Clin. Invest. 118: 651-658, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18219393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18219393</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18219393[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI32899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18219393">Depreux et al. (2008)</a> found that Eya4-null mice had severe hearing deficits and developed otitis media with effusion. All 50 mutant mice showed hypervascularity of the tympanic membrane, marked retraction of the tympanic membrane, and middle ear effusions consistent with otitis media. Fifty control mice showed no such abnormalities. Anatomic studies of mutant mice showed an abnormal middle ear cavity and dysmorphology of the eustachian tube. The authors postulated that susceptibility to human otitis media (<a href="/entry/166760">166760</a>) may involve genetic variation in genes such as EYA4 that regulate middle ear and eustachian tube anatomy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18219393" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2128707546 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2128707546;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2128707546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2128707546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a 5-generation family with autosomal dominant nonsyndromic sensorineural deafness (DFNA10; <a href="/entry/601316">601316</a>), <a href="#8" class="mim-tip-reference" title="Wayne, S., Robertson, N. G., DeClau, F., Chen, N., Verhoeven, K., Prasad, S., Tranebjarg, L., Morton, C. C., Ryan, A. F., Van Camp, G., Smith, R. J. H. <strong>Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.</strong> Hum. Molec. Genet. 10: 195-200, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11159937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11159937</a>] [<a href="https://doi.org/10.1093/hmg/10.3.195" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11159937">Wayne et al. (2001)</a> identified the insertion of 2 adenines at nucleotide 1468 in exon 12 of the EYA4 gene, subsequently generating a frameshift and premature stop codon in exon 14 and eliminating the entire eya-HR. <a href="#7" class="mim-tip-reference" title="Schonberger, J., Wang, L., Shin, J. T., Kim, S. D., Depreux, F. F. S., Zhu, H., Zon, L., Pizard, A., Kim, J. B., MacRae, C. A., Mungall, A. J., Seidman, J. G., Seidman, C. E. <strong>Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.</strong> Nature Genet. 37: 418-422, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15735644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15735644</a>] [<a href="https://doi.org/10.1038/ng1527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15735644">Schonberger et al. (2005)</a> designated the truncated protein E342. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15735644+11159937" 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 affected members of a Belgian family with autosomal dominant nonsyndromic sensorineural deafness (DFNA10; <a href="/entry/601316">601316</a>), <a href="#8" class="mim-tip-reference" title="Wayne, S., Robertson, N. G., DeClau, F., Chen, N., Verhoeven, K., Prasad, S., Tranebjarg, L., Morton, C. C., Ryan, A. F., Van Camp, G., Smith, R. J. H. <strong>Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.</strong> Hum. Molec. Genet. 10: 195-200, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11159937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11159937</a>] [<a href="https://doi.org/10.1093/hmg/10.3.195" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11159937">Wayne et al. (2001)</a> identified a C-to-T transition at nucleotide 2200 in exon 20 of the EYA4 gene, generating a premature stop codon that was predicted to eliminate 52 amino acids from the C-terminal eya-homologous region of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11159937" 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 affected members of a kindred (MCE) with dilated cardiomyopathy and heart failure preceded by sensorineural hearing loss (CMD1J; <a href="/entry/605362">605362</a>) described by <a href="#6" class="mim-tip-reference" title="Schonberger, J., Levy, H., Grunig, E., Sangwatanaroj, S., Fatkin, D., MacRae, C., Stacker, H., Halpin, C., Eavey, R., Philbin, E. F., Katus, H., Seidman, J. G., Seidman, C. E. <strong>Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24.</strong> Circulation 101: 1812-1818, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10769282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10769282</a>] [<a href="https://doi.org/10.1161/01.cir.101.15.1812" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10769282">Schonberger et al. (2000)</a>, <a href="#7" class="mim-tip-reference" title="Schonberger, J., Wang, L., Shin, J. T., Kim, S. D., Depreux, F. F. S., Zhu, H., Zon, L., Pizard, A., Kim, J. B., MacRae, C. A., Mungall, A. J., Seidman, J. G., Seidman, C. E. <strong>Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.</strong> Nature Genet. 37: 418-422, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15735644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15735644</a>] [<a href="https://doi.org/10.1038/ng1527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15735644">Schonberger et al. (2005)</a> identified a 4,846-bp deletion that encompassed the last nucleotide of exon 9, intron 9, exon 10, and part of intron 10 of the EYA4 gene, resulting in deletion of nucleotides 1022-1245 (corresponding to exons 9 and 10) and a frameshift after residue 193, with 29 new residues and a premature stop codon. The authors designated the mutant protein E193, and noted that it was 143 residues shorter than the shortest nonsyndromic-SNHL-associated EYA4 peptide identified to date (E342; <a href="#0001">603550.0001</a>) and affected both the eya-HR and the variable region of the protein. The deletion was absent from 300 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15735644+10769282" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2128707619 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2128707619;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2128707619" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2128707619" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001804164" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001804164" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001804164</a>
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<p>In affected members of a family segregating autosomal dominant nonsyndromic postlingual progressive sensorineural hearing loss (DFNA10; <a href="/entry/601316">601316</a>), <a href="#4" class="mim-tip-reference" title="Makishima, T., Madeo, A. C., Brewer, C. C., Zalewski, C. K., Butman, J. A., Sachdev, V., Arai, A. E., Holbrook, B. M., Rosing, D. R., Griffith, A. J. <strong>Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.</strong> Am. J. Med. Genet. 143A: 1592-1598, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17567890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17567890</a>] [<a href="https://doi.org/10.1002/ajmg.a.31793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17567890">Makishima et al. (2007)</a> identified heterozygosity for a 2-bp insertion (1490insAA) in exon 12 of the EYA4 gene, predicted to result in a truncated EYA4 protein with an intact variable domain and a deleted Eya domain. The mutation was not found in unaffected family members or in 96 ethnically matched control DNA samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17567890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 DEAFNESS, AUTOSOMAL DOMINANT 10</strong>
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EYA4, IVS14, 1282-12T-A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2128781753 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2128781753;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2128781753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2128781753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006618" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006618" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006618</a>
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<p>In affected members of a 5-generation Australian family with nonsyndromic sensorineural hearing loss (DFNA10; <a href="/entry/601316">601316</a>), <a href="#3" class="mim-tip-reference" title="Hildebrand, M. S., Coman, D., Yang, T., Gardner, R. J. M., Rose, E., Smith, R. J. H., Bahlo, M., Dahl, H.-H. M. <strong>A novel splice site mutation in EYA4 causes DFNA10 hearing loss.</strong> Am. J. Med. Genet. 143A: 1599-1604, 2007. Note: Erratum: Am. J. Med. Genet. 146A: 1099 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17568404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17568404</a>] [<a href="https://doi.org/10.1002/ajmg.a.31860" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17568404">Hildebrand et al. (2007)</a> identified heterozygosity for a variation within a polypyrimidine tract, 1282-12T-A, in intron 14 of the EYA4 gene that introduces a new 3-prime splice acceptor site, predicted to cause aberrant splicing of EYA4 pre-mRNA and a frameshift involving the C-terminal eya-HR domain (residues 369-639). The mutation was not found in 150 control samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17568404" 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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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Borsani1999" class="mim-anchor"></a>
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Borsani, G., DeGrandi, A., Ballabio, A., Bulfone, A., Bernard, L., Banfi, S., Gattuso, C., Mariani, M., Dixon, M., Donnai, D., Metcalfe, K., Winter, R., Robertson, M., Axton, R., Brown, A., van Heyningen, V., Hanson, I.
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<strong>EYA4, a novel vertebrate gene related to Drosophila eyes absent.</strong>
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Hum. Molec. Genet. 8: 11-23, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9887327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9887327</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9887327" 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/8.1.11" target="_blank">Full Text</a>]
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<a id="Depreux2008" class="mim-anchor"></a>
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Depreux, F. F. S., Darrow, K., Conner, D. A., Eavey, R. D., Liberman, M. C., Seidman, C. E., Seidman, J. G.
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<strong>Eya4-deficient mice are a model for heritable otitis media.</strong>
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J. Clin. Invest. 118: 651-658, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18219393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18219393</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18219393[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=18219393" 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/10.1172/JCI32899" target="_blank">Full Text</a>]
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<a id="Hildebrand2007" class="mim-anchor"></a>
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Hildebrand, M. S., Coman, D., Yang, T., Gardner, R. J. M., Rose, E., Smith, R. J. H., Bahlo, M., Dahl, H.-H. M.
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<strong>A novel splice site mutation in EYA4 causes DFNA10 hearing loss.</strong>
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Am. J. Med. Genet. 143A: 1599-1604, 2007. Note: Erratum: Am. J. Med. Genet. 146A: 1099 only, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17568404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17568404</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17568404" 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.a.31860" target="_blank">Full Text</a>]
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<a id="Makishima2007" class="mim-anchor"></a>
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Makishima, T., Madeo, A. C., Brewer, C. C., Zalewski, C. K., Butman, J. A., Sachdev, V., Arai, A. E., Holbrook, B. M., Rosing, D. R., Griffith, A. J.
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<strong>Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.</strong>
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Am. J. Med. Genet. 143A: 1592-1598, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17567890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17567890</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17567890" 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.a.31793" target="_blank">Full Text</a>]
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<a id="Okabe2009" class="mim-anchor"></a>
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Okabe, Y., Sano, T., Nagata, S.
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<strong>Regulation of the innate immune response by threonine-phosphatase of Eyes absent.</strong>
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Nature 460: 520-524, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19561593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19561593</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19561593" 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/nature08138" target="_blank">Full Text</a>]
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<a id="Schonberger2000" class="mim-anchor"></a>
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Schonberger, J., Levy, H., Grunig, E., Sangwatanaroj, S., Fatkin, D., MacRae, C., Stacker, H., Halpin, C., Eavey, R., Philbin, E. F., Katus, H., Seidman, J. G., Seidman, C. E.
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<strong>Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24.</strong>
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Circulation 101: 1812-1818, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10769282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10769282</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10769282" 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/10.1161/01.cir.101.15.1812" target="_blank">Full Text</a>]
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<a id="Schonberger2005" class="mim-anchor"></a>
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Schonberger, J., Wang, L., Shin, J. T., Kim, S. D., Depreux, F. F. S., Zhu, H., Zon, L., Pizard, A., Kim, J. B., MacRae, C. A., Mungall, A. J., Seidman, J. G., Seidman, C. E.
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<strong>Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.</strong>
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Nature Genet. 37: 418-422, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15735644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15735644</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15735644" 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/ng1527" target="_blank">Full Text</a>]
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Wayne, S., Robertson, N. G., DeClau, F., Chen, N., Verhoeven, K., Prasad, S., Tranebjarg, L., Morton, C. C., Ryan, A. F., Van Camp, G., Smith, R. J. H.
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<strong>Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.</strong>
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Hum. Molec. Genet. 10: 195-200, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11159937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11159937</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11159937" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ada Hamosh - updated : 8/10/2009
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Marla J. F. O'Neill - updated : 5/30/2008<br>Cassandra L. Kniffin - updated : 2/28/2008<br>Victor A. McKusick - updated : 3/29/2005<br>George E. Tiller - updated : 4/17/2001
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Victor A. McKusick : 2/18/1999
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 09/20/2019
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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 : 09/19/2019<br>alopez : 05/24/2018<br>alopez : 05/24/2018<br>carol : 09/27/2016<br>mgross : 08/10/2009<br>mgross : 8/10/2009<br>terry : 8/10/2009<br>terry : 12/2/2008<br>carol : 8/14/2008<br>carol : 6/3/2008<br>carol : 6/2/2008<br>terry : 5/30/2008<br>wwang : 3/19/2008<br>ckniffin : 2/28/2008<br>carol : 9/4/2007<br>tkritzer : 4/1/2005<br>terry : 3/29/2005<br>cwells : 5/9/2001<br>cwells : 4/26/2001<br>cwells : 4/20/2001<br>cwells : 4/17/2001<br>carol : 2/18/1999
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603550
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</h3>
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<h3>
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EYA TRANSCRIPTIONAL COACTIVATOR AND PHOSPHATASE 4; EYA4
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<h4>
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<span class="mim-font">
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EYES ABSENT 4<br />
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EYES ABSENT, DROSOPHILA, HOMOLOG OF, 4
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</h4>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: EYA4</em></strong>
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</p>
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<strong>
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<em>
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Cytogenetic location: 6q23.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 6:133,240,593-133,532,128 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<th>
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Location
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</th>
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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<th>
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Phenotype <br /> mapping key
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<tbody>
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<td rowspan="2">
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<span class="mim-font">
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6q23.2
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<span class="mim-font">
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?Cardiomyopathy, dilated, 1J
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<span class="mim-font">
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605362
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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Deafness, autosomal dominant 10
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601316
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>Borsani et al. (1999) presented the detailed characterization of a fourth vertebrate gene, designated EYA4, that is homologous to 'eyes absent' (eya), a key regulator of ocular development in Drosophila. See also EYA1 (601653), EYA2 (601654), and EYA3 (601655). The authors found that EYA4 encodes a 640-amino acid protein containing a highly conserved C-terminal domain of 271 amino acids, which has been designated the eya-homologous region (eya-HR) or eya domain. In Drosophila, eya is known to mediate developmentally important protein-protein interactions. In the developing mouse embryo, Eya4 was expressed primarily in the craniofacial mesenchyme, the dermamyotome, and the limb. </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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<p>Okabe et al. (2009) found that mouse Eya4, which was originally identified as a cotranscription factor, stimulated expression of Ifnb (147640) and Cxcl10 (147310) in response to the undigested DNA of apoptotic cells. Eya4 enhanced the innate immune response against Newcastle disease virus and vesicular stomatitis virus, and it could associate with the signaling molecules Ips1 (609676), Sting (TMEM173; 612374), and Nlrx1 (611947). Okabe et al. (2009) showed that mouse EYA family members acted as phosphatases for both phosphotyrosine and phosphothreonine. The haloacid dehalogenase domain at the C terminus of Eya4 contained the tyrosine-phosphatase activity, and the N-terminal half carried the threonine-phosphatase activity. Mutations of the threonine-phosphatase, but not the tyrosine-phosphatase, abolished the ability of Eya4 to enhance the innate immune response, suggesting that EYA proteins regulate the innate immune response by modulating the phosphorylation state of signal transducers for intracellular pathogens. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</h4>
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<span class="mim-text-font">
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<p>By radiation hybrid analysis and fluorescence in situ hybridization, Borsani et al. (1999) mapped the human EYA4 gene to 6q23. They also detected linkage, with a lod score of greater than 3, to previously mapped reference markers. They genetically mapped the mouse Eya4 gene to chromosome 10 in the vicinity of Aco2 (100850), in a region homologous to human chromosome 6q22-q23. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p><strong><em>Autosomal Dominant Deafness 10</em></strong></p><p>
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In an American and a Belgian family with autosomal dominant nonsyndromic postlingual progressive hearing loss mapping to the DFNA10 locus (601316), Wayne et al. (2001) identified 2 different mutations in the EYA4 gene (603550.0001 and 603550.0002, respectively). Just as EYA proteins interact with members of the SIX (601205) and DACH (603803) protein families during early embryonic development, the authors suggested that EYA4 is also important postdevelopmentally for continued function of the mature organ of Corti. </p><p>In a family segregating autosomal dominant nonsyndromic postlingual progressive sensorineural hearing loss (SNHL), Makishima et al. (2007) identified a heterozygous 2-bp insertion (603550.0004) in the EYA4 gene. Noting that the 3 EYA4 mutations reported to date causing nonsyndromic SNHL are predicted to encode truncated EYA proteins with a deleted Eya domain but an intact variable domain, whereas the deletion (603550.0003) causing syndromic hearing loss with DCM partially truncates the variable domain of the protein as well, Makishima et al. (2007) proposed a correlation between EYA4 mutation position and the presence or absence of DCM. </p><p>In a 5-generation Australian family with nonsyndromic SNHL, Hildebrand et al. (2007) identified heterozygosity for a splice site mutation (603550.0005) in the EYA4 gene, predicted to cause a frameshift affecting the C-terminal eya-HR domain (residues 369-639). </p><p><strong><em>Dilated Cardiomyopathy with Sensorineural Hearing Loss, Autosomal Dominant</em></strong></p><p>
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In affected members of a kindred (MCE) with dilated cardiomyopathy (DCM) and heart failure preceded by sensorineural hearing loss mapping to 6q23-q24 (CMD1J; 605362) previously described by Schonberger et al. (2000), Schonberger et al. (2005) identified a large deletion in the EYA4 gene (603550.0003) resulting in a truncated protein that they designated E193. Analysis of biochemical interactions of E193 and of E342 (603550.0001), the shortest mutant protein associated with nonsyndromic hearing loss, revealed that E342 retained partial function, binding wildtype EYA4 and associating with SIX proteins, whereas E193 did not. </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>To elucidate the role of EYA4 in heart function, Schonberger et al. (2005) studied zebrafish embryos injected with antisense morpholino oligonucleotides and found that attenuated Eya4 transcript levels produced morphologic and hemodynamic features of heart failure. </p><p>Depreux et al. (2008) found that Eya4-null mice had severe hearing deficits and developed otitis media with effusion. All 50 mutant mice showed hypervascularity of the tympanic membrane, marked retraction of the tympanic membrane, and middle ear effusions consistent with otitis media. Fifty control mice showed no such abnormalities. Anatomic studies of mutant mice showed an abnormal middle ear cavity and dysmorphology of the eustachian tube. The authors postulated that susceptibility to human otitis media (166760) may involve genetic variation in genes such as EYA4 that regulate middle ear and eustachian tube anatomy. </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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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>5 Selected Examples):</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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 DEAFNESS, AUTOSOMAL DOMINANT 10</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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EYA4, 2-BP INS, 1468AA
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<br />
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SNP: rs2128707546,
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ClinVar: RCV002279737
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<div>
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<span class="mim-text-font">
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<p>In affected members of a 5-generation family with autosomal dominant nonsyndromic sensorineural deafness (DFNA10; 601316), Wayne et al. (2001) identified the insertion of 2 adenines at nucleotide 1468 in exon 12 of the EYA4 gene, subsequently generating a frameshift and premature stop codon in exon 14 and eliminating the entire eya-HR. Schonberger et al. (2005) designated the truncated protein E342. </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>.0002 DEAFNESS, AUTOSOMAL DOMINANT 10</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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EYA4, 2200C-T
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<br />
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SNP: rs1554275988,
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ClinVar: RCV000627227, RCV001807645, RCV002529807
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a Belgian family with autosomal dominant nonsyndromic sensorineural deafness (DFNA10; 601316), Wayne et al. (2001) identified a C-to-T transition at nucleotide 2200 in exon 20 of the EYA4 gene, generating a premature stop codon that was predicted to eliminate 52 amino acids from the C-terminal eya-homologous region of the protein. </p>
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</span>
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<div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 CARDIOMYOPATHY, DILATED, 1J (1 family)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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EYA4, 4,846-BP DEL
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<br />
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ClinVar: RCV000006616
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a kindred (MCE) with dilated cardiomyopathy and heart failure preceded by sensorineural hearing loss (CMD1J; 605362) described by Schonberger et al. (2000), Schonberger et al. (2005) identified a 4,846-bp deletion that encompassed the last nucleotide of exon 9, intron 9, exon 10, and part of intron 10 of the EYA4 gene, resulting in deletion of nucleotides 1022-1245 (corresponding to exons 9 and 10) and a frameshift after residue 193, with 29 new residues and a premature stop codon. The authors designated the mutant protein E193, and noted that it was 143 residues shorter than the shortest nonsyndromic-SNHL-associated EYA4 peptide identified to date (E342; 603550.0001) and affected both the eya-HR and the variable region of the protein. The deletion was absent from 300 control chromosomes. </p>
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</span>
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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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<h4>
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<span class="mim-font">
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<strong>.0004 DEAFNESS, AUTOSOMAL DOMINANT 10</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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EYA4, 2-BP INS, 1490AA
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<br />
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SNP: rs2128707619,
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ClinVar: RCV001804164
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a family segregating autosomal dominant nonsyndromic postlingual progressive sensorineural hearing loss (DFNA10; 601316), Makishima et al. (2007) identified heterozygosity for a 2-bp insertion (1490insAA) in exon 12 of the EYA4 gene, predicted to result in a truncated EYA4 protein with an intact variable domain and a deleted Eya domain. The mutation was not found in unaffected family members or in 96 ethnically matched control DNA samples. </p>
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</span>
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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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 DEAFNESS, AUTOSOMAL DOMINANT 10</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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EYA4, IVS14, 1282-12T-A
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<br />
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SNP: rs2128781753,
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ClinVar: RCV000006618
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</span>
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</div>
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<p>In affected members of a 5-generation Australian family with nonsyndromic sensorineural hearing loss (DFNA10; 601316), Hildebrand et al. (2007) identified heterozygosity for a variation within a polypyrimidine tract, 1282-12T-A, in intron 14 of the EYA4 gene that introduces a new 3-prime splice acceptor site, predicted to cause aberrant splicing of EYA4 pre-mRNA and a frameshift involving the C-terminal eya-HR domain (residues 369-639). The mutation was not found in 150 control samples. </p>
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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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Borsani, G., DeGrandi, A., Ballabio, A., Bulfone, A., Bernard, L., Banfi, S., Gattuso, C., Mariani, M., Dixon, M., Donnai, D., Metcalfe, K., Winter, R., Robertson, M., Axton, R., Brown, A., van Heyningen, V., Hanson, I.
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<strong>EYA4, a novel vertebrate gene related to Drosophila eyes absent.</strong>
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Hum. Molec. Genet. 8: 11-23, 1999.
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[PubMed: 9887327]
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[Full Text: https://doi.org/10.1093/hmg/8.1.11]
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Depreux, F. F. S., Darrow, K., Conner, D. A., Eavey, R. D., Liberman, M. C., Seidman, C. E., Seidman, J. G.
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<strong>Eya4-deficient mice are a model for heritable otitis media.</strong>
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J. Clin. Invest. 118: 651-658, 2008.
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[PubMed: 18219393]
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[Full Text: https://doi.org/10.1172/JCI32899]
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</p>
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</li>
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<li>
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Hildebrand, M. S., Coman, D., Yang, T., Gardner, R. J. M., Rose, E., Smith, R. J. H., Bahlo, M., Dahl, H.-H. M.
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<strong>A novel splice site mutation in EYA4 causes DFNA10 hearing loss.</strong>
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Am. J. Med. Genet. 143A: 1599-1604, 2007. Note: Erratum: Am. J. Med. Genet. 146A: 1099 only, 2008.
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[PubMed: 17568404]
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[Full Text: https://doi.org/10.1002/ajmg.a.31860]
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Makishima, T., Madeo, A. C., Brewer, C. C., Zalewski, C. K., Butman, J. A., Sachdev, V., Arai, A. E., Holbrook, B. M., Rosing, D. R., Griffith, A. J.
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<strong>Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.</strong>
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Am. J. Med. Genet. 143A: 1592-1598, 2007.
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[PubMed: 17567890]
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[Full Text: https://doi.org/10.1002/ajmg.a.31793]
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Okabe, Y., Sano, T., Nagata, S.
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<strong>Regulation of the innate immune response by threonine-phosphatase of Eyes absent.</strong>
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Nature 460: 520-524, 2009.
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[PubMed: 19561593]
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[Full Text: https://doi.org/10.1038/nature08138]
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</li>
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<li>
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<p class="mim-text-font">
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Schonberger, J., Levy, H., Grunig, E., Sangwatanaroj, S., Fatkin, D., MacRae, C., Stacker, H., Halpin, C., Eavey, R., Philbin, E. F., Katus, H., Seidman, J. G., Seidman, C. E.
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<strong>Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24.</strong>
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Circulation 101: 1812-1818, 2000.
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[PubMed: 10769282]
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[Full Text: https://doi.org/10.1161/01.cir.101.15.1812]
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Schonberger, J., Wang, L., Shin, J. T., Kim, S. D., Depreux, F. F. S., Zhu, H., Zon, L., Pizard, A., Kim, J. B., MacRae, C. A., Mungall, A. J., Seidman, J. G., Seidman, C. E.
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<strong>Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.</strong>
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Nature Genet. 37: 418-422, 2005.
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[PubMed: 15735644]
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[Full Text: https://doi.org/10.1038/ng1527]
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Wayne, S., Robertson, N. G., DeClau, F., Chen, N., Verhoeven, K., Prasad, S., Tranebjarg, L., Morton, C. C., Ryan, A. F., Van Camp, G., Smith, R. J. H.
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<strong>Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.</strong>
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Hum. Molec. Genet. 10: 195-200, 2001.
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[PubMed: 11159937]
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[Full Text: https://doi.org/10.1093/hmg/10.3.195]
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Ada Hamosh - updated : 8/10/2009<br>Marla J. F. O'Neill - updated : 5/30/2008<br>Cassandra L. Kniffin - updated : 2/28/2008<br>Victor A. McKusick - updated : 3/29/2005<br>George E. Tiller - updated : 4/17/2001
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Victor A. McKusick : 2/18/1999
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carol : 09/20/2019<br>carol : 09/19/2019<br>alopez : 05/24/2018<br>alopez : 05/24/2018<br>carol : 09/27/2016<br>mgross : 08/10/2009<br>mgross : 8/10/2009<br>terry : 8/10/2009<br>terry : 12/2/2008<br>carol : 8/14/2008<br>carol : 6/3/2008<br>carol : 6/2/2008<br>terry : 5/30/2008<br>wwang : 3/19/2008<br>ckniffin : 2/28/2008<br>carol : 9/4/2007<br>tkritzer : 4/1/2005<br>terry : 3/29/2005<br>cwells : 5/9/2001<br>cwells : 4/26/2001<br>cwells : 4/20/2001<br>cwells : 4/17/2001<br>carol : 2/18/1999
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