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<title>
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Entry
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- *142993 - VISUAL SYSTEM HOMEOBOX 2; VSX2
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- OMIM
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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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<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 style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</form>
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<p />
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</div>
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</div>
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<div class="row">
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<div class="col-lg-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">*142993</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 role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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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="#geneStructure">Gene Structure</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="#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="#molecularGenetics">Molecular Genetics</a>
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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/142993">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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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000119614;t=ENST00000261980" 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=338917" 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=142993" 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=ENSG00000119614;t=ENST00000261980" 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_182894" 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_182894" 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=142993" 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=08852&isoform_id=08852_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/VSX2" 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/17374365,33285958,34365783,118764289,119601569,119601570,758898536,758898538,758898542,758898544,758898547,758898549,758898559,758898561,828178174,828178176,984697624,984697626,1001946553,1001946555" 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/P58304" 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=338917" 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=ENSG00000119614;t=ENST00000261980" 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=VSX2" 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=VSX2" 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+338917" 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/VSX2" 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:338917" 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/338917" 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=chr14&hgg_gene=ENST00000261980.3&hgg_start=74239449&hgg_end=74262738&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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=142993[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=142993[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://gnomad.broadinstitute.org/gene/ENSG00000119614" 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=VSX2" 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=VSX2" 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=VSX2" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=VSX2&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/PA26511" 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:1975" 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/FBgn0263512.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:88401" 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/VSX2#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:88401" 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/338917/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=338917" 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=WBGene00000435;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-001222-1" 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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<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=VSX2&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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142993
|
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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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VISUAL SYSTEM HOMEOBOX 2; VSX2
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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>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
HOMEOBOX 10; HOX10<br />
|
|
CEH10 HOMEODOMAIN-CONTAINING HOMOLOG; CHX10
|
|
</span>
|
|
</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>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=VSX2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">VSX2</a></em></strong>
|
|
</span>
|
|
</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/14/382?start=-3&limit=10&highlight=382">14q24.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr14:74239449-74262738&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'})">14:74,239,449-74,262,738</a> </span>
|
|
</em>
|
|
</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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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=610093,610092" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/14/382?start=-3&limit=10&highlight=382">
|
|
14q24.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Microphthalmia, isolated 2
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/610093"> 610093 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<p>HOX10 encodes a developmentally regulated homeobox originally identified by <a href="#3" class="mim-tip-reference" title="De Chen, J., Bapat, B., Bascom, R., Willard, H., Gallie, B., McInnes, R. R. <strong>Identification of a developmentally regulated human retinal homeobox gene. (Abstract)</strong> Am. J. Hum. Genet. 45: A111, 1989."None>De Chen et al. (1989)</a> on the basis of its relatively abundant, retina-specific expression. <a href="#7" class="mim-tip-reference" title="Liu, I. S. C., Chen, J., Ploder, L., Vidgen, D., van der Kooy, D., Kalhius, V. I., McInnes, R. R. <strong>Developmental expression of a novel murine homeobox gene (Chx10): evidence for roles in determination of the neuroretina and inner nuclear layer.</strong> Neuron 13: 377-393, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7914735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7914735</a>] [<a href="https://doi.org/10.1016/0896-6273(94)90354-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7914735">Liu et al. (1994)</a> cloned a mouse Chx10 cDNA. <a href="#9" class="mim-tip-reference" title="Percin, E. F., Ploder, L. A., Yu, J. J., Arici, K., Horsford, D. J., Rutherford, A., Bapat, B., Cox, D. W., Duncan, A. M. V., Kalnins, V. I., Kocak-Altintas, A., Sowden, J. C., Traboulsi, E., Sarfarazi, M., McInnes, R. R. <strong>Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.</strong> Nature Genet. 25: 397-401, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10932181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10932181</a>] [<a href="https://doi.org/10.1038/78071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10932181">Percin et al. (2000)</a> cloned a human CHX10 cDNA encoding a deduced 361-amino acid polypeptide with 97% overall identity to mouse Chx10 and complete identity in the homeodomain and CVC domain. In situ hybridization to human fetal retinal sections detected CHX10 expression in retinal neuroblasts at all stages examined. Human CHX10 is expressed in progenitor cells of the developing neuroretina and in the inner nuclear layer of the mature retina. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10932181+7914735" 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="#9" class="mim-tip-reference" title="Percin, E. F., Ploder, L. A., Yu, J. J., Arici, K., Horsford, D. J., Rutherford, A., Bapat, B., Cox, D. W., Duncan, A. M. V., Kalnins, V. I., Kocak-Altintas, A., Sowden, J. C., Traboulsi, E., Sarfarazi, M., McInnes, R. R. <strong>Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.</strong> Nature Genet. 25: 397-401, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10932181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10932181</a>] [<a href="https://doi.org/10.1038/78071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10932181">Percin et al. (2000)</a> determined that the CHX10 gene contains at least 5 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10932181" 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 study of somatic cell hybrids, <a href="#3" class="mim-tip-reference" title="De Chen, J., Bapat, B., Bascom, R., Willard, H., Gallie, B., McInnes, R. R. <strong>Identification of a developmentally regulated human retinal homeobox gene. (Abstract)</strong> Am. J. Hum. Genet. 45: A111, 1989."None>De Chen et al. (1989)</a> mapped the HOX10 gene, which they called RET1, to chromosome 14. <a href="#4" class="mim-tip-reference" title="De Chen, J., Ploder, L., Collins, L., Thorner, P., Kalnins, V., Duncan, A., Taylor, B., McInnes, R. R. <strong>Chromosomal sublocalization and cellular expression of the retinal homeobox gene HOX10. (Abstract)</strong> Am. J. Hum. Genet. 47: A102, 1990."None>De Chen et al. (1990)</a> sublocalized the gene to 14q24.3 by in situ hybridization. This placed HOX10 close to FOS (<a href="/entry/164810">164810</a>) and proximal to alpha-1-antitrypsin (<a href="/entry/107400">107400</a>). <a href="#4" class="mim-tip-reference" title="De Chen, J., Ploder, L., Collins, L., Thorner, P., Kalnins, V., Duncan, A., Taylor, B., McInnes, R. R. <strong>Chromosomal sublocalization and cellular expression of the retinal homeobox gene HOX10. (Abstract)</strong> Am. J. Hum. Genet. 47: A102, 1990."None>De Chen et al. (1990)</a> mapped the mouse homolog to the distal part of mouse chromosome 12 by linkage analysis.</p>
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<p>Rod-derived cone viability factor (RDCVF) is a retinal trophic factor encoded by the NXNL1 gene (<a href="/entry/608791">608791</a>). RDCVF expression is lost after rod degeneration in the first phase of retinitis pigmentosa (RP; <a href="/entry/268000">268000</a>), and this loss has been implicated in the more clinically significant secondary cone degeneration that often occurs. <a href="#10" class="mim-tip-reference" title="Reichman, S., Kalathur, R. K. R., Lambard, S., Ait-Ali, N., Yang, Y., Lardenois, A., Ripp, R., Poch, O., Zack, D. J., Sahel, J.-A., Leveillard, T. <strong>The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina.</strong> Hum. Molec. Genet. 19: 250-261, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19843539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19843539</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19843539[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp484" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19843539">Reichman et al. (2010)</a> identified the homeodomain proteins CHX10/VSX2, VSX1 (<a href="/entry/605020">605020</a>), and PAX4 (<a href="/entry/167413">167413</a>), as well as the zinc finger protein SP3 (<a href="/entry/601804">601804</a>), as factors that could stimulate both the mouse and human NXNL1 promoter. In addition, CHX10/VSX2 bound to the NXNL1 promoter in vivo. Rdcvf was expressed in the inner as well as the outer retina of mice. The loss of rods in the rd1 mouse, a model of retinitis pigmentosa, was associated with decreased expression of Rdcvf by inner retinal cells as well as by rods. <a href="#10" class="mim-tip-reference" title="Reichman, S., Kalathur, R. K. R., Lambard, S., Ait-Ali, N., Yang, Y., Lardenois, A., Ripp, R., Poch, O., Zack, D. J., Sahel, J.-A., Leveillard, T. <strong>The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina.</strong> Hum. Molec. Genet. 19: 250-261, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19843539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19843539</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19843539[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp484" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19843539">Reichman et al. (2010)</a> proposed an alternative therapeutic strategy aimed at recapitulating RDCVF expression in the inner retina, where cell loss is not significant, to prevent secondary cone death and central vision loss in patients suffering from retinitis pigmentosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19843539" 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="#9" class="mim-tip-reference" title="Percin, E. F., Ploder, L. A., Yu, J. J., Arici, K., Horsford, D. J., Rutherford, A., Bapat, B., Cox, D. W., Duncan, A. M. V., Kalnins, V. I., Kocak-Altintas, A., Sowden, J. C., Traboulsi, E., Sarfarazi, M., McInnes, R. R. <strong>Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.</strong> Nature Genet. 25: 397-401, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10932181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10932181</a>] [<a href="https://doi.org/10.1038/78071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10932181">Percin et al. (2000)</a> reported the mapping of a human microphthalmia locus on 14q24.3, the cloning of CHX10 at this locus, and the identification of recessive CHX10 mutations in 2 families with nonsyndromic microphthalmia, cataracts, and severe abnormalities of the iris (see <a href="/entry/610092">610092</a>). In affected individuals from 2 unrelated families, a highly conserved arginine residue in the DNA-recognition helix of the homeodomain was replaced by glutamine or proline (R200Q, <a href="#0001">142993.0001</a>, and R200P, <a href="#0002">142993.0002</a>), respectively. Identification of the CHX10 consensus DNA binding sequence (TAATTAGC) allowed the authors to demonstrate that both mutations severely disrupted CHX10 function. The strong conservation in vertebrates of the CHX10 sequence, pattern of expression, and loss-of-function phenotypes demonstrated the evolutionary importance of the genetic network through which this gene regulates eye development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10932181" 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>Using linkage analysis followed by sequencing of the CHX10 gene in 2 consanguineous Arab families with isolated microphthalmia/clinical anophthalmia (MCOP2; <a href="/entry/610093">610093</a>) and a Jewish Syrian family with microphthalmia/clinical anophthalmia with colobomas (MCOPCB3; <a href="/entry/610092">610092</a>), <a href="#1" class="mim-tip-reference" title="Bar-Yosef, U., Abuelaish, I., Harel, T., Hendler, N., Ofir, R., Birk, O. S. <strong>CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds.</strong> Hum. Genet. 115: 302-309, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15257456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15257456</a>] [<a href="https://doi.org/10.1007/s00439-004-1154-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15257456">Bar-Yosef et al. (2004)</a> identified homozygosity for 3 mutations: an R227W substitution in exon 4 (<a href="#0003">142993.0003</a>), an approximately 4-kb deletion encompassing exon 3 (<a href="#0004">142993.0004</a>), and a splice site G-to-A transition in intron 1 (<a href="#0005">142993.0005</a>), respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15257456" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected individuals from 2 consanguineous families from Qatar with microphthalmia and cloudy corneas (<a href="/entry/610093">610093</a>), <a href="#5" class="mim-tip-reference" title="Faiyaz-Ul-Haque, M., Zaidi, S. H. E., Al-Mureikhi, M. S., Peltekova, I., Tsui, L.-C., Teebi, A. S. <strong>Mutations in the CHX10 gene in nonsyndromic microphthalmia/anophthalmia patients from Qatar.</strong> Clin. Genet. 72: 164-166, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17661825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17661825</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00846.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17661825">Faiyaz-Ul-Haque et al. (2007)</a> identified homozygosity for the R200P mutation (<a href="#0002">142993.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17661825" 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="#8" class="mim-tip-reference" title="McInnes, R. R., Basu, S., Novak, J., Ploder, L., Liang, M.-Y., Hawes, N., Taylor, B., Roderick, T., Goldman, D., Hankin, M., Burmeister, M. <strong>The ocular retardation (orJ) mouse has an ochre mutation in the homeobox gene Chx10: direct evidence for Chx10 as a major determinant of retinal development. (Abstract)</strong> Am. J. Hum. Genet. 55 (suppl.): A3, 1994."None>McInnes et al. (1994)</a> demonstrated that the Chx10 gene in the mouse is the site of an ochre stop mutation (UAA) in the 'ocular retardation,' or(J), mouse. The 'or' mutation causes microphthalmia, progressive destruction of the retina, and absence of the optic nerve. <a href="#8" class="mim-tip-reference" title="McInnes, R. R., Basu, S., Novak, J., Ploder, L., Liang, M.-Y., Hawes, N., Taylor, B., Roderick, T., Goldman, D., Hankin, M., Burmeister, M. <strong>The ocular retardation (orJ) mouse has an ochre mutation in the homeobox gene Chx10: direct evidence for Chx10 as a major determinant of retinal development. (Abstract)</strong> Am. J. Hum. Genet. 55 (suppl.): A3, 1994."None>McInnes et al. (1994)</a> demonstrated homozygosity for a tyr29-to-ter mutation. They suggested that CHX10 mutations may cause microphthalmia in man.</p><p><a href="#2" class="mim-tip-reference" title="Burmeister, M., Novak, J., Liang, M.-Y., Basu, S., Ploder, L., Hawes, N. L., Vidgen, D., Hoover, F., Goldman, D., Kalnins, V. I., Roderick, T. H., Taylor, B. A., Hankin, M. H., McInnes, R. R. <strong>Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation.</strong> Nature Genet. 12: 376-384, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630490</a>] [<a href="https://doi.org/10.1038/ng0496-376" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630490">Burmeister et al. (1996)</a> found that a null mutation in the Chx10 gene was responsible for the phenotype in mice with ocular retardation, a microphthalmia phenotype described by <a href="#12" class="mim-tip-reference" title="Truslove, G. M. <strong>A gene causing ocular retardation in the mouse.</strong> J. Embryol. Exp. Morph. 10: 652-660, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13994395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13994395</a>]" pmid="13994395">Truslove (1962)</a>. <a href="#2" class="mim-tip-reference" title="Burmeister, M., Novak, J., Liang, M.-Y., Basu, S., Ploder, L., Hawes, N. L., Vidgen, D., Hoover, F., Goldman, D., Kalnins, V. I., Roderick, T. H., Taylor, B. A., Hankin, M. H., McInnes, R. R. <strong>Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation.</strong> Nature Genet. 12: 376-384, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630490</a>] [<a href="https://doi.org/10.1038/ng0496-376" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630490">Burmeister et al. (1996)</a> demonstrated that mice carrying the 'or' allele have a premature stop codon in the homeobox of the Chx10 gene, a gene expressed at high levels in uncommitted retinal progenitor cells and mature bipolar cells. Homozygotes for the 'or' allele showed no detectable CHX10 protein in the retinal neuroepithelium. The results indicated that Chx10 is an essential component in the network of genes required for the development of the mammalian eye. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13994395+8630490" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Wellik, D. M., Capecchi, M. R. <strong>Hox10 and Hox11 genes are required to globally pattern the mammalian skeleton.</strong> Science 301: 363-367, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12869760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12869760</a>] [<a href="https://doi.org/10.1126/science.1085672" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12869760">Wellik and Capecchi (2003)</a> generated mice in which all members of the Hox10 and/or Hox11 (<a href="/entry/186770">186770</a>) paralogous group are disrupted and showed that these genes are global regulators of the lumbosacral region of the axial skeleton and are integral in patterning principal limb elements. In the absence of Hox10 function, no lumbar vertebrae are formed. Instead, ribs project from all posterior vertebrae, extending caudally from the last thoracic vertebrae to beyond the sacral region. In the absence of Hox11 function, sacral vertebrae are not formed and instead these vertebrae assume a lumbar identity. The redundancy among these paralogous family members is so great that this global aspect of Hox patterning is not apparent in mice that are mutant for 5 of the 6 paralogous alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12869760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Rutherford, A. D., Dhomen, N., Smith, H. K., Sowden, J. C. <strong>Delayed expression of the Crx gene and photoreceptor development in the Chx10-deficient retina.</strong> Invest. Ophthal. Vis. Sci. 45: 375-384, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14744875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14744875</a>] [<a href="https://doi.org/10.1167/iovs.03-0332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14744875">Rutherford et al. (2004)</a> examined how neuronal development in the mouse retina was affected by the absence of the Chx10 transcription factor. They found that delay of the normal temporal expression of genes essential for photoreceptor disc morphogenesis led to failure of correct rod and cone outer segment formation in the homozygous Chx10 null mouse retina. In addition, the absence of Chx10 appeared to affect the development of late-born cells more than that of early-born cells, in that a low number of rods developed, whereas formation of ganglion, amacrine, and cone cells was relatively unaffected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14744875" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=142993[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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<p>In 2 affected members of a consanguineous kindred from Turkey with bilateral microphthalmia, congenital cataracts, and bilateral inferior colobomas of the iris (see <a href="/entry/610092">610092</a>), <a href="#9" class="mim-tip-reference" title="Percin, E. F., Ploder, L. A., Yu, J. J., Arici, K., Horsford, D. J., Rutherford, A., Bapat, B., Cox, D. W., Duncan, A. M. V., Kalnins, V. I., Kocak-Altintas, A., Sowden, J. C., Traboulsi, E., Sarfarazi, M., McInnes, R. R. <strong>Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.</strong> Nature Genet. 25: 397-401, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10932181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10932181</a>] [<a href="https://doi.org/10.1038/78071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10932181">Percin et al. (2000)</a> identified an arg200-to-gln (R200Q) missense mutation of the CHX10 gene due to homozygosity for a G-to-A transition. Four members were affected; the abnormalities in the proband at 9 months of age and in the other affected subject available for study at age 49 years were strictly ocular. Neither had light perception. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10932181" 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 a 2-month-old child with bilateral microphthalmia, congenital cataracts, and no pupillary aperture (see <a href="/entry/610092">610092</a>), born of clinically normal consanguineous parents, <a href="#9" class="mim-tip-reference" title="Percin, E. F., Ploder, L. A., Yu, J. J., Arici, K., Horsford, D. J., Rutherford, A., Bapat, B., Cox, D. W., Duncan, A. M. V., Kalnins, V. I., Kocak-Altintas, A., Sowden, J. C., Traboulsi, E., Sarfarazi, M., McInnes, R. R. <strong>Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.</strong> Nature Genet. 25: 397-401, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10932181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10932181</a>] [<a href="https://doi.org/10.1038/78071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10932181">Percin et al. (2000)</a> identified homozygosity for a 599G-A transition in the CHX10 gene, resulting in an arg200-to-pro (R200P) substitution. In addition to the ocular anomalies, the child had undescended testes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10932181" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 6 affected individuals from 2 consanguineous families from Qatar with isolated microphthalmia (MCOP2; <a href="/entry/610093">610093</a>) and cloudy corneas, <a href="#5" class="mim-tip-reference" title="Faiyaz-Ul-Haque, M., Zaidi, S. H. E., Al-Mureikhi, M. S., Peltekova, I., Tsui, L.-C., Teebi, A. S. <strong>Mutations in the CHX10 gene in nonsyndromic microphthalmia/anophthalmia patients from Qatar.</strong> Clin. Genet. 72: 164-166, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17661825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17661825</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00846.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17661825">Faiyaz-Ul-Haque et al. (2007)</a> identified homozygosity for a 599G-C transversion in exon 4 of the CHX10 gene, resulting in an R200P substitution in the DNA binding domain. Unaffected parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17661825" 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"><span class="text-primary">●</span> rs121912545 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912545;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121912545?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121912545" 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=rs121912545" 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=RCV000015988 OR RCV000714543 OR RCV000786019 OR RCV004586011 OR RCV005007855" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015988, RCV000714543, RCV000786019, RCV004586011, RCV005007855" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015988...</a>
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<p>In affected members of a consanguineous Arab family with isolated microphthalmia/clinical anophthalmia (MCOP2; <a href="/entry/610093">610093</a>), <a href="#1" class="mim-tip-reference" title="Bar-Yosef, U., Abuelaish, I., Harel, T., Hendler, N., Ofir, R., Birk, O. S. <strong>CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds.</strong> Hum. Genet. 115: 302-309, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15257456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15257456</a>] [<a href="https://doi.org/10.1007/s00439-004-1154-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15257456">Bar-Yosef et al. (2004)</a> identified homozygosity for a c.1237G-A transition in exon 4 of the CHX10 gene, resulting in an arg227-to-trp substitution in the CVC domain. The authors noted that this arginine residue is conserved in all known CHX10 homologs as well as in the CVC domains of related genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15257456" 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>.0004 MICROPHTHALMIA, ISOLATED 2</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015989" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015989" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015989</a>
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<p>In affected members of a consanguineous Arab family previously reported by <a href="#6" class="mim-tip-reference" title="Kohn, G., El Shawwa, R., El Rayyes, E. <strong>Isolated 'clinical anophthalmia' in an extensively affected Arab kindred.</strong> Clin. Genet. 33: 321-324, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3378363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3378363</a>]" pmid="3378363">Kohn et al. (1988)</a> with isolated severe bilateral microphthalmia/clinical anophthalmia (MCOP2; <a href="/entry/610093">610093</a>), <a href="#1" class="mim-tip-reference" title="Bar-Yosef, U., Abuelaish, I., Harel, T., Hendler, N., Ofir, R., Birk, O. S. <strong>CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds.</strong> Hum. Genet. 115: 302-309, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15257456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15257456</a>] [<a href="https://doi.org/10.1007/s00439-004-1154-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15257456">Bar-Yosef et al. (2004)</a> identified homozygosity for an approximately 4-kb deletion encompassing exon 3 of the CHX10 gene, thus abolishing both the homeobox domain and the CVC domain. One affected member also had tracheoesophageal fistula and mild right hydronephrosis, which the authors stated were 'undoubtedly unrelated to the microphthalmia.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3378363+15257456" 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 MICROPHTHALMIA/COLOBOMA 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1395124261 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1395124261;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1395124261?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1395124261" 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=rs1395124261" 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=RCV001884138 OR RCV002077342" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001884138, RCV002077342" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001884138...</a>
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<p>In affected members of a consanguineous Jewish Syrian family with microphthalmia/clinical anophthalmia and coloboma of the iris (MCOPCB3; <a href="/entry/610092">610092</a>), <a href="#1" class="mim-tip-reference" title="Bar-Yosef, U., Abuelaish, I., Harel, T., Hendler, N., Ofir, R., Birk, O. S. <strong>CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds.</strong> Hum. Genet. 115: 302-309, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15257456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15257456</a>] [<a href="https://doi.org/10.1007/s00439-004-1154-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15257456">Bar-Yosef et al. (2004)</a> identified homozygosity for a G-to-A transition in the last base of the first CHX10 intron, predicted to abolish the donor-acceptor site at the intron-exon junction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15257456" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Bar-Yosef, U., Abuelaish, I., Harel, T., Hendler, N., Ofir, R., Birk, O. S.
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<strong>CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds.</strong>
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Hum. Genet. 115: 302-309, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15257456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15257456</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15257456" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-004-1154-2" target="_blank">Full Text</a>]
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<a id="Burmeister1996" class="mim-anchor"></a>
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Burmeister, M., Novak, J., Liang, M.-Y., Basu, S., Ploder, L., Hawes, N. L., Vidgen, D., Hoover, F., Goldman, D., Kalnins, V. I., Roderick, T. H., Taylor, B. A., Hankin, M. H., McInnes, R. R.
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<strong>Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation.</strong>
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Nature Genet. 12: 376-384, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630490</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8630490" 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/ng0496-376" target="_blank">Full Text</a>]
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De Chen, J., Bapat, B., Bascom, R., Willard, H., Gallie, B., McInnes, R. R.
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<strong>Identification of a developmentally regulated human retinal homeobox gene. (Abstract)</strong>
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Am. J. Hum. Genet. 45: A111, 1989.
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De Chen, J., Ploder, L., Collins, L., Thorner, P., Kalnins, V., Duncan, A., Taylor, B., McInnes, R. R.
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<strong>Chromosomal sublocalization and cellular expression of the retinal homeobox gene HOX10. (Abstract)</strong>
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Am. J. Hum. Genet. 47: A102, 1990.
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Faiyaz-Ul-Haque, M., Zaidi, S. H. E., Al-Mureikhi, M. S., Peltekova, I., Tsui, L.-C., Teebi, A. S.
|
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<strong>Mutations in the CHX10 gene in nonsyndromic microphthalmia/anophthalmia patients from Qatar.</strong>
|
|
Clin. Genet. 72: 164-166, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17661825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17661825</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17661825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2007.00846.x" target="_blank">Full Text</a>]
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Kohn, G., El Shawwa, R., El Rayyes, E.
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<strong>Isolated 'clinical anophthalmia' in an extensively affected Arab kindred.</strong>
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Clin. Genet. 33: 321-324, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3378363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3378363</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3378363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Liu, I. S. C., Chen, J., Ploder, L., Vidgen, D., van der Kooy, D., Kalhius, V. I., McInnes, R. R.
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<strong>Developmental expression of a novel murine homeobox gene (Chx10): evidence for roles in determination of the neuroretina and inner nuclear layer.</strong>
|
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Neuron 13: 377-393, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7914735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7914735</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7914735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0896-6273(94)90354-9" target="_blank">Full Text</a>]
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McInnes, R. R., Basu, S., Novak, J., Ploder, L., Liang, M.-Y., Hawes, N., Taylor, B., Roderick, T., Goldman, D., Hankin, M., Burmeister, M.
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<strong>The ocular retardation (orJ) mouse has an ochre mutation in the homeobox gene Chx10: direct evidence for Chx10 as a major determinant of retinal development. (Abstract)</strong>
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Am. J. Hum. Genet. 55 (suppl.): A3, 1994.
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Percin, E. F., Ploder, L. A., Yu, J. J., Arici, K., Horsford, D. J., Rutherford, A., Bapat, B., Cox, D. W., Duncan, A. M. V., Kalnins, V. I., Kocak-Altintas, A., Sowden, J. C., Traboulsi, E., Sarfarazi, M., McInnes, R. R.
|
|
<strong>Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.</strong>
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Nature Genet. 25: 397-401, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10932181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10932181</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10932181" 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/10.1038/78071" target="_blank">Full Text</a>]
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Reichman, S., Kalathur, R. K. R., Lambard, S., Ait-Ali, N., Yang, Y., Lardenois, A., Ripp, R., Poch, O., Zack, D. J., Sahel, J.-A., Leveillard, T.
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<strong>The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina.</strong>
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Hum. Molec. Genet. 19: 250-261, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19843539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19843539</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19843539[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=19843539" 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/ddp484" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Rutherford, A. D., Dhomen, N., Smith, H. K., Sowden, J. C.
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<strong>Delayed expression of the Crx gene and photoreceptor development in the Chx10-deficient retina.</strong>
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Invest. Ophthal. Vis. Sci. 45: 375-384, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14744875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14744875</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14744875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1167/iovs.03-0332" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Truslove1962" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Truslove, G. M.
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<strong>A gene causing ocular retardation in the mouse.</strong>
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J. Embryol. Exp. Morph. 10: 652-660, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13994395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13994395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13994395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Wellik2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wellik, D. M., Capecchi, M. R.
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<strong>Hox10 and Hox11 genes are required to globally pattern the mammalian skeleton.</strong>
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Science 301: 363-367, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12869760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12869760</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12869760" 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/10.1126/science.1085672" target="_blank">Full Text</a>]
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</p>
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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George E. Tiller - updated : 12/29/2010
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/30/2007<br>Marla J. F. O'Neill - updated : 5/3/2006<br>Marla J. F. O'Neill - updated : 5/17/2005<br>Jane Kelly - updated : 7/30/2004<br>Ada Hamosh - updated : 8/5/2003<br>Victor A. McKusick - updated : 7/31/2000
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</span>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 12/12/1991
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 02/21/2024
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</span>
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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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alopez : 02/03/2015<br>mcolton : 2/2/2015<br>wwang : 1/11/2011<br>terry : 12/29/2010<br>carol : 12/4/2007<br>wwang : 10/30/2007<br>carol : 5/9/2007<br>carol : 6/1/2006<br>carol : 5/3/2006<br>terry : 5/17/2005<br>tkritzer : 8/3/2004<br>terry : 7/30/2004<br>terry : 3/18/2004<br>mgross : 3/17/2004<br>alopez : 8/7/2003<br>terry : 8/5/2003<br>terry : 7/28/2003<br>carol : 6/18/2003<br>carol : 6/18/2003<br>alopez : 7/31/2000<br>terry : 7/31/2000<br>terry : 7/31/2000<br>alopez : 4/20/2000<br>carol : 11/9/1999<br>dkim : 7/21/1998<br>mark : 2/26/1998<br>jenny : 9/18/1997<br>mark : 4/9/1996<br>terry : 4/5/1996<br>terry : 12/30/1994<br>carol : 3/1/1993<br>supermim : 3/16/1992<br>carol : 12/12/1991
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</span>
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</div>
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</div>
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</div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 142993
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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VISUAL SYSTEM HOMEOBOX 2; VSX2
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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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<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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HOMEOBOX 10; HOX10<br />
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CEH10 HOMEODOMAIN-CONTAINING HOMOLOG; CHX10
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: VSX2</em></strong>
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</span>
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</p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 14q24.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 14:74,239,449-74,262,738 </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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<div>
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<div>
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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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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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14q24.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Microphthalmia, isolated 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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610093
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<tr>
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<td>
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<span class="mim-font">
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Microphthalmia/coloboma 3
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</span>
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</td>
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<td>
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<span class="mim-font">
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610092
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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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>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>HOX10 encodes a developmentally regulated homeobox originally identified by De Chen et al. (1989) on the basis of its relatively abundant, retina-specific expression. Liu et al. (1994) cloned a mouse Chx10 cDNA. Percin et al. (2000) cloned a human CHX10 cDNA encoding a deduced 361-amino acid polypeptide with 97% overall identity to mouse Chx10 and complete identity in the homeodomain and CVC domain. In situ hybridization to human fetal retinal sections detected CHX10 expression in retinal neuroblasts at all stages examined. Human CHX10 is expressed in progenitor cells of the developing neuroretina and in the inner nuclear layer of the mature retina. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</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>Percin et al. (2000) determined that the CHX10 gene contains at least 5 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By study of somatic cell hybrids, De Chen et al. (1989) mapped the HOX10 gene, which they called RET1, to chromosome 14. De Chen et al. (1990) sublocalized the gene to 14q24.3 by in situ hybridization. This placed HOX10 close to FOS (164810) and proximal to alpha-1-antitrypsin (107400). De Chen et al. (1990) mapped the mouse homolog to the distal part of mouse chromosome 12 by linkage analysis.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</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>Rod-derived cone viability factor (RDCVF) is a retinal trophic factor encoded by the NXNL1 gene (608791). RDCVF expression is lost after rod degeneration in the first phase of retinitis pigmentosa (RP; 268000), and this loss has been implicated in the more clinically significant secondary cone degeneration that often occurs. Reichman et al. (2010) identified the homeodomain proteins CHX10/VSX2, VSX1 (605020), and PAX4 (167413), as well as the zinc finger protein SP3 (601804), as factors that could stimulate both the mouse and human NXNL1 promoter. In addition, CHX10/VSX2 bound to the NXNL1 promoter in vivo. Rdcvf was expressed in the inner as well as the outer retina of mice. The loss of rods in the rd1 mouse, a model of retinitis pigmentosa, was associated with decreased expression of Rdcvf by inner retinal cells as well as by rods. Reichman et al. (2010) proposed an alternative therapeutic strategy aimed at recapitulating RDCVF expression in the inner retina, where cell loss is not significant, to prevent secondary cone death and central vision loss in patients suffering from retinitis pigmentosa. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Percin et al. (2000) reported the mapping of a human microphthalmia locus on 14q24.3, the cloning of CHX10 at this locus, and the identification of recessive CHX10 mutations in 2 families with nonsyndromic microphthalmia, cataracts, and severe abnormalities of the iris (see 610092). In affected individuals from 2 unrelated families, a highly conserved arginine residue in the DNA-recognition helix of the homeodomain was replaced by glutamine or proline (R200Q, 142993.0001, and R200P, 142993.0002), respectively. Identification of the CHX10 consensus DNA binding sequence (TAATTAGC) allowed the authors to demonstrate that both mutations severely disrupted CHX10 function. The strong conservation in vertebrates of the CHX10 sequence, pattern of expression, and loss-of-function phenotypes demonstrated the evolutionary importance of the genetic network through which this gene regulates eye development. </p><p>Using linkage analysis followed by sequencing of the CHX10 gene in 2 consanguineous Arab families with isolated microphthalmia/clinical anophthalmia (MCOP2; 610093) and a Jewish Syrian family with microphthalmia/clinical anophthalmia with colobomas (MCOPCB3; 610092), Bar-Yosef et al. (2004) identified homozygosity for 3 mutations: an R227W substitution in exon 4 (142993.0003), an approximately 4-kb deletion encompassing exon 3 (142993.0004), and a splice site G-to-A transition in intron 1 (142993.0005), respectively. </p><p>In affected individuals from 2 consanguineous families from Qatar with microphthalmia and cloudy corneas (610093), Faiyaz-Ul-Haque et al. (2007) identified homozygosity for the R200P mutation (142993.0002). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>McInnes et al. (1994) demonstrated that the Chx10 gene in the mouse is the site of an ochre stop mutation (UAA) in the 'ocular retardation,' or(J), mouse. The 'or' mutation causes microphthalmia, progressive destruction of the retina, and absence of the optic nerve. McInnes et al. (1994) demonstrated homozygosity for a tyr29-to-ter mutation. They suggested that CHX10 mutations may cause microphthalmia in man.</p><p>Burmeister et al. (1996) found that a null mutation in the Chx10 gene was responsible for the phenotype in mice with ocular retardation, a microphthalmia phenotype described by Truslove (1962). Burmeister et al. (1996) demonstrated that mice carrying the 'or' allele have a premature stop codon in the homeobox of the Chx10 gene, a gene expressed at high levels in uncommitted retinal progenitor cells and mature bipolar cells. Homozygotes for the 'or' allele showed no detectable CHX10 protein in the retinal neuroepithelium. The results indicated that Chx10 is an essential component in the network of genes required for the development of the mammalian eye. </p><p>Wellik and Capecchi (2003) generated mice in which all members of the Hox10 and/or Hox11 (186770) paralogous group are disrupted and showed that these genes are global regulators of the lumbosacral region of the axial skeleton and are integral in patterning principal limb elements. In the absence of Hox10 function, no lumbar vertebrae are formed. Instead, ribs project from all posterior vertebrae, extending caudally from the last thoracic vertebrae to beyond the sacral region. In the absence of Hox11 function, sacral vertebrae are not formed and instead these vertebrae assume a lumbar identity. The redundancy among these paralogous family members is so great that this global aspect of Hox patterning is not apparent in mice that are mutant for 5 of the 6 paralogous alleles. </p><p>Rutherford et al. (2004) examined how neuronal development in the mouse retina was affected by the absence of the Chx10 transcription factor. They found that delay of the normal temporal expression of genes essential for photoreceptor disc morphogenesis led to failure of correct rod and cone outer segment formation in the homozygous Chx10 null mouse retina. In addition, the absence of Chx10 appeared to affect the development of late-born cells more than that of early-born cells, in that a low number of rods developed, whereas formation of ganglion, amacrine, and cone cells was relatively unaffected. </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>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 MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES</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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VSX2, ARG200GLN
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<br />
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SNP: rs121912543,
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gnomAD: rs121912543,
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ClinVar: RCV000015985, RCV001851882
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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 2 affected members of a consanguineous kindred from Turkey with bilateral microphthalmia, congenital cataracts, and bilateral inferior colobomas of the iris (see 610092), Percin et al. (2000) identified an arg200-to-gln (R200Q) missense mutation of the CHX10 gene due to homozygosity for a G-to-A transition. Four members were affected; the abnormalities in the proband at 9 months of age and in the other affected subject available for study at age 49 years were strictly ocular. Neither had light perception. </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>.0002 MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES</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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MICROPHTHALMIA, ISOLATED 2, INCLUDED
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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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VSX2, ARG200PRO
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<br />
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SNP: rs121912543,
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gnomAD: rs121912543,
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ClinVar: RCV000015986, RCV000015987, RCV000413928, RCV001330573, RCV004755737
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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 a 2-month-old child with bilateral microphthalmia, congenital cataracts, and no pupillary aperture (see 610092), born of clinically normal consanguineous parents, Percin et al. (2000) identified homozygosity for a 599G-A transition in the CHX10 gene, resulting in an arg200-to-pro (R200P) substitution. In addition to the ocular anomalies, the child had undescended testes. </p><p>In 6 affected individuals from 2 consanguineous families from Qatar with isolated microphthalmia (MCOP2; 610093) and cloudy corneas, Faiyaz-Ul-Haque et al. (2007) identified homozygosity for a 599G-C transversion in exon 4 of the CHX10 gene, resulting in an R200P substitution in the DNA binding domain. Unaffected parents were heterozygous for the mutation. </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>.0003 MICROPHTHALMIA, ISOLATED 2</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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VSX2, ARG227TRP
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<br />
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SNP: rs121912545,
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gnomAD: rs121912545,
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ClinVar: RCV000015988, RCV000714543, RCV000786019, RCV004586011, RCV005007855
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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 consanguineous Arab family with isolated microphthalmia/clinical anophthalmia (MCOP2; 610093), Bar-Yosef et al. (2004) identified homozygosity for a c.1237G-A transition in exon 4 of the CHX10 gene, resulting in an arg227-to-trp substitution in the CVC domain. The authors noted that this arginine residue is conserved in all known CHX10 homologs as well as in the CVC domains of related genes. </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>.0004 MICROPHTHALMIA, ISOLATED 2</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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VSX2, 4-KB DEL, EXON 3
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<br />
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ClinVar: RCV000015989
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous Arab family previously reported by Kohn et al. (1988) with isolated severe bilateral microphthalmia/clinical anophthalmia (MCOP2; 610093), Bar-Yosef et al. (2004) identified homozygosity for an approximately 4-kb deletion encompassing exon 3 of the CHX10 gene, thus abolishing both the homeobox domain and the CVC domain. One affected member also had tracheoesophageal fistula and mild right hydronephrosis, which the authors stated were 'undoubtedly unrelated to the microphthalmia.' </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>
|
|
<span class="mim-font">
|
|
<strong>.0005 MICROPHTHALMIA/COLOBOMA 3</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
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|
|
VSX2, IVS1, G-A, -1
|
|
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|
|
<br />
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|
|
SNP: rs1395124261,
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|
|
gnomAD: rs1395124261,
|
|
|
|
|
|
ClinVar: RCV001884138, RCV002077342
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous Jewish Syrian family with microphthalmia/clinical anophthalmia and coloboma of the iris (MCOPCB3; 610092), Bar-Yosef et al. (2004) identified homozygosity for a G-to-A transition in the last base of the first CHX10 intron, predicted to abolish the donor-acceptor site at the intron-exon junction. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bar-Yosef, U., Abuelaish, I., Harel, T., Hendler, N., Ofir, R., Birk, O. S.
|
|
<strong>CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds.</strong>
|
|
Hum. Genet. 115: 302-309, 2004.
|
|
|
|
|
|
[PubMed: 15257456]
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|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-004-1154-2]
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Burmeister, M., Novak, J., Liang, M.-Y., Basu, S., Ploder, L., Hawes, N. L., Vidgen, D., Hoover, F., Goldman, D., Kalnins, V. I., Roderick, T. H., Taylor, B. A., Hankin, M. H., McInnes, R. R.
|
|
<strong>Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation.</strong>
|
|
Nature Genet. 12: 376-384, 1996.
|
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|
|
[PubMed: 8630490]
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|
|
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[Full Text: https://doi.org/10.1038/ng0496-376]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
De Chen, J., Bapat, B., Bascom, R., Willard, H., Gallie, B., McInnes, R. R.
|
|
<strong>Identification of a developmentally regulated human retinal homeobox gene. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45: A111, 1989.
|
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|
</p>
|
|
</li>
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|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
De Chen, J., Ploder, L., Collins, L., Thorner, P., Kalnins, V., Duncan, A., Taylor, B., McInnes, R. R.
|
|
<strong>Chromosomal sublocalization and cellular expression of the retinal homeobox gene HOX10. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 47: A102, 1990.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Faiyaz-Ul-Haque, M., Zaidi, S. H. E., Al-Mureikhi, M. S., Peltekova, I., Tsui, L.-C., Teebi, A. S.
|
|
<strong>Mutations in the CHX10 gene in nonsyndromic microphthalmia/anophthalmia patients from Qatar.</strong>
|
|
Clin. Genet. 72: 164-166, 2007.
|
|
|
|
|
|
[PubMed: 17661825]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00846.x]
|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Kohn, G., El Shawwa, R., El Rayyes, E.
|
|
<strong>Isolated 'clinical anophthalmia' in an extensively affected Arab kindred.</strong>
|
|
Clin. Genet. 33: 321-324, 1988.
|
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[PubMed: 3378363]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Liu, I. S. C., Chen, J., Ploder, L., Vidgen, D., van der Kooy, D., Kalhius, V. I., McInnes, R. R.
|
|
<strong>Developmental expression of a novel murine homeobox gene (Chx10): evidence for roles in determination of the neuroretina and inner nuclear layer.</strong>
|
|
Neuron 13: 377-393, 1994.
|
|
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|
|
|
[PubMed: 7914735]
|
|
|
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|
[Full Text: https://doi.org/10.1016/0896-6273(94)90354-9]
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</p>
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</li>
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|
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<li>
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|
<p class="mim-text-font">
|
|
McInnes, R. R., Basu, S., Novak, J., Ploder, L., Liang, M.-Y., Hawes, N., Taylor, B., Roderick, T., Goldman, D., Hankin, M., Burmeister, M.
|
|
<strong>The ocular retardation (orJ) mouse has an ochre mutation in the homeobox gene Chx10: direct evidence for Chx10 as a major determinant of retinal development. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 55 (suppl.): A3, 1994.
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</p>
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</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Percin, E. F., Ploder, L. A., Yu, J. J., Arici, K., Horsford, D. J., Rutherford, A., Bapat, B., Cox, D. W., Duncan, A. M. V., Kalnins, V. I., Kocak-Altintas, A., Sowden, J. C., Traboulsi, E., Sarfarazi, M., McInnes, R. R.
|
|
<strong>Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.</strong>
|
|
Nature Genet. 25: 397-401, 2000.
|
|
|
|
|
|
[PubMed: 10932181]
|
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|
|
|
[Full Text: https://doi.org/10.1038/78071]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
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Reichman, S., Kalathur, R. K. R., Lambard, S., Ait-Ali, N., Yang, Y., Lardenois, A., Ripp, R., Poch, O., Zack, D. J., Sahel, J.-A., Leveillard, T.
|
|
<strong>The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina.</strong>
|
|
Hum. Molec. Genet. 19: 250-261, 2010.
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[PubMed: 19843539]
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[Full Text: https://doi.org/10.1093/hmg/ddp484]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Rutherford, A. D., Dhomen, N., Smith, H. K., Sowden, J. C.
|
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<strong>Delayed expression of the Crx gene and photoreceptor development in the Chx10-deficient retina.</strong>
|
|
Invest. Ophthal. Vis. Sci. 45: 375-384, 2004.
|
|
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|
|
|
[PubMed: 14744875]
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[Full Text: https://doi.org/10.1167/iovs.03-0332]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Truslove, G. M.
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<strong>A gene causing ocular retardation in the mouse.</strong>
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J. Embryol. Exp. Morph. 10: 652-660, 1962.
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[PubMed: 13994395]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Wellik, D. M., Capecchi, M. R.
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<strong>Hox10 and Hox11 genes are required to globally pattern the mammalian skeleton.</strong>
|
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Science 301: 363-367, 2003.
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|
[PubMed: 12869760]
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[Full Text: https://doi.org/10.1126/science.1085672]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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George E. Tiller - updated : 12/29/2010<br>Marla J. F. O'Neill - updated : 10/30/2007<br>Marla J. F. O'Neill - updated : 5/3/2006<br>Marla J. F. O'Neill - updated : 5/17/2005<br>Jane Kelly - updated : 7/30/2004<br>Ada Hamosh - updated : 8/5/2003<br>Victor A. McKusick - updated : 7/31/2000
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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 class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 12/12/1991
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</span>
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</div>
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Edit History:
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alopez : 02/21/2024<br>alopez : 02/03/2015<br>mcolton : 2/2/2015<br>wwang : 1/11/2011<br>terry : 12/29/2010<br>carol : 12/4/2007<br>wwang : 10/30/2007<br>carol : 5/9/2007<br>carol : 6/1/2006<br>carol : 5/3/2006<br>terry : 5/17/2005<br>tkritzer : 8/3/2004<br>terry : 7/30/2004<br>terry : 3/18/2004<br>mgross : 3/17/2004<br>alopez : 8/7/2003<br>terry : 8/5/2003<br>terry : 7/28/2003<br>carol : 6/18/2003<br>carol : 6/18/2003<br>alopez : 7/31/2000<br>terry : 7/31/2000<br>terry : 7/31/2000<br>alopez : 4/20/2000<br>carol : 11/9/1999<br>dkim : 7/21/1998<br>mark : 2/26/1998<br>jenny : 9/18/1997<br>mark : 4/9/1996<br>terry : 4/5/1996<br>terry : 12/30/1994<br>carol : 3/1/1993<br>supermim : 3/16/1992<br>carol : 12/12/1991
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