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<title>
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Entry
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- *608830 - RETINOL DEHYDROGENASE 12; RDH12
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- OMIM
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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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<li role="separator" class="divider"></li>
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</form>
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<div class="row">
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<p />
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</div>
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</div>
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*608830</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</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">
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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/608830">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=ENSG00000139988;t=ENST00000551171" 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=145226" 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=608830" 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=ENSG00000139988;t=ENST00000551171" 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_152443,XM_047430965" 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_152443" 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=608830" 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=10585&isoform_id=10585_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/RDH12" 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/16549449,19343615,116242750,119601357,186928839,189067911,957951817,957951820,2104715023,2217296354,2462538940,2462538942" 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/Q96NR8" 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=145226" 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=ENSG00000139988;t=ENST00000551171" 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=RDH12" 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=RDH12" 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+145226" 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/RDH12" 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:145226" 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/145226" 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=ENST00000551171.6&hgg_start=67701886&hgg_end=67734451&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">
|
|
<span class="panel-title">
|
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<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:19977" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608830[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=608830[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/ENSG00000139988" 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=RDH12" 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=RDH12" 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=RDH12" 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=RDH12&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/PA134864793" 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">
|
|
<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:19977" 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/FBgn0029866.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:1925224" 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/RDH12#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:1925224" 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/145226/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=145226" 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=WBGene00000985;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-040718-9" 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">
|
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<span class="panel-title">
|
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<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:145226" 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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<div><a href="https://reactome.org/content/query?q=RDH12&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">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
608830
|
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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>
|
|
<h3>
|
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<span class="mim-font">
|
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|
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RETINOL DEHYDROGENASE 12; RDH12
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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>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
RETINOL DEHYDROGENASE, ALL-TRANS AND 9-CIS
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</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=RDH12" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RDH12</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</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/14/332?start=-3&limit=10&highlight=332">14q24.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr14:67701886-67734451&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'})">14:67,701,886-67,734,451</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
|
|
|
|
</span>
|
|
</p>
|
|
</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">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/14/332?start=-3&limit=10&highlight=332">
|
|
14q24.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Leber congenital amaurosis 13
|
|
|
|
</span>
|
|
</td>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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PheneGene Graphics <span class="caret"></span>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>Retinoids are indispensable light-sensitive elements of vision and also serve as essential modulators of cellular differentiation and proliferation in diverse cell types. RDH12 belongs to a family of dual-specificity retinol dehydrogenases that metabolize both all-trans- and cis-retinols (<a href="#3" class="mim-tip-reference" title="Haeseleer, F., Jang, G.-F., Imanishi, Y., Driessen, C. A. G. G., Matsumura, M., Nelson, P. S., Palczewski, K. <strong>Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina.</strong> J. Biol. Chem. 277: 45537-45546, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12226107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12226107</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12226107[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/10.1074/jbc.M208882200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12226107">Haeseleer et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12226107" 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 searching databases for sequences similar to RDH11 (<a href="/entry/607849">607849</a>), followed by PCR of a retina cDNA library, <a href="#3" class="mim-tip-reference" title="Haeseleer, F., Jang, G.-F., Imanishi, Y., Driessen, C. A. G. G., Matsumura, M., Nelson, P. S., Palczewski, K. <strong>Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina.</strong> J. Biol. Chem. 277: 45537-45546, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12226107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12226107</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12226107[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/10.1074/jbc.M208882200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12226107">Haeseleer et al. (2002)</a> cloned RDH12. The deduced 316-amino acid RDH12 protein has a calculated molecular mass of about 35 kD and shares 79% similarity with RDH11. RDH12 contains 2 motifs highly conserved among short chain alcohol dehydrogenases/reductases, the cofactor-binding site and catalytic residues. EST database analysis indicated that RDH12 is expressed predominantly in eye and also in kidney, brain, skeletal muscle, and stomach. In situ hybridization to monkey and mouse retina indicated Rdh12 is expressed at the base of photoreceptor inner segments. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12226107" 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="#3" class="mim-tip-reference" title="Haeseleer, F., Jang, G.-F., Imanishi, Y., Driessen, C. A. G. G., Matsumura, M., Nelson, P. S., Palczewski, K. <strong>Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina.</strong> J. Biol. Chem. 277: 45537-45546, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12226107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12226107</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12226107[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/10.1074/jbc.M208882200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12226107">Haeseleer et al. (2002)</a> determined that the RDH12 gene contains 7 exons and spans about 13 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12226107" 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 genomic sequence analysis, <a href="#3" class="mim-tip-reference" title="Haeseleer, F., Jang, G.-F., Imanishi, Y., Driessen, C. A. G. G., Matsumura, M., Nelson, P. S., Palczewski, K. <strong>Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina.</strong> J. Biol. Chem. 277: 45537-45546, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12226107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12226107</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12226107[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/10.1074/jbc.M208882200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12226107">Haeseleer et al. (2002)</a> mapped the RDH12 gene to chromosome 14q23.3, where it lies about 30 kb from the RDH11 gene and within the locus for the recessive blinding disease Leber congenital amaurosis-13 (LCA13; <a href="/entry/612712">612712</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12226107" 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="#3" class="mim-tip-reference" title="Haeseleer, F., Jang, G.-F., Imanishi, Y., Driessen, C. A. G. G., Matsumura, M., Nelson, P. S., Palczewski, K. <strong>Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina.</strong> J. Biol. Chem. 277: 45537-45546, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12226107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12226107</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12226107[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/10.1074/jbc.M208882200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12226107">Haeseleer et al. (2002)</a> determined that recombinant RDH12 was expressed in insect cells as a membrane protein with enzymatic properties similar to those of RDH11. Both enzymes catalyzed the reduction of all-trans-retinal and its 9-cis-, 11-cis-, and 13-cis-retinal isomers in the presence of NADPH. Analysis of the reactions suggested that these enzymes catalyze the reaction in both directions (NADPH/retinals--NADP/retinols), with equal utilization of 11-cis-retinal and all trans-retinal. No steroid dehydrogenase activity was detected for RDH12. RDH12 activity was potently inhibited by retinoic acids, recombinant CRBP1 (<a href="/entry/180260">180260</a>), and CRALBP (<a href="/entry/180090">180090</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12226107" 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="#4" class="mim-tip-reference" title="Janecke, A. R., Thompson, D. A., Utermann, G., Becker, C., Hubner, C. A., Schmid, E., McHenry, C. L., Nair, A. R., Ruschendorf, F., Heckenlively, J., Wissinger, B., Nurnberg, P., Gal, A. <strong>Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.</strong> Nature Genet. 36: 850-854, 2004. Note: Erratum: Nature Genet. 36: 1024 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15258582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15258582</a>] [<a href="https://doi.org/10.1038/ng1394" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15258582">Janecke et al. (2004)</a> described 3 consanguineous kindreds with LCA13 (<a href="/entry/612712">612712</a>) in which relatedness seemed likely because of geographic proximity and similar disease phenotype, although genealogic studies could not link the families. A whole-genome scan by microarray analysis of SNPs identified a founder haplotype and defined a critical interval of 1.53 cM on 14q23.3-q24.1 that contained the RDH12 gene, encoding a retinol dehydrogenase thought to function in the visual cycle (<a href="#3" class="mim-tip-reference" title="Haeseleer, F., Jang, G.-F., Imanishi, Y., Driessen, C. A. G. G., Matsumura, M., Nelson, P. S., Palczewski, K. <strong>Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina.</strong> J. Biol. Chem. 277: 45537-45546, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12226107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12226107</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12226107[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/10.1074/jbc.M208882200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12226107">Haeseleer et al., 2002</a>). All affected family members studied from the 3 kindreds, as well as 2 Austrian individuals with sporadic LCA, were found to be homozygous for a tyr226-to-cys mutation in the RDH12 gene (Y226C; <a href="#0001">608830.0001</a>). <a href="#4" class="mim-tip-reference" title="Janecke, A. R., Thompson, D. A., Utermann, G., Becker, C., Hubner, C. A., Schmid, E., McHenry, C. L., Nair, A. R., Ruschendorf, F., Heckenlively, J., Wissinger, B., Nurnberg, P., Gal, A. <strong>Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.</strong> Nature Genet. 36: 850-854, 2004. Note: Erratum: Nature Genet. 36: 1024 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15258582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15258582</a>] [<a href="https://doi.org/10.1038/ng1394" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15258582">Janecke et al. (2004)</a> identified additional mutations in RDH12 in 3 of 89 non-Austrian individuals with LCA13: 806delCCCTG (<a href="#0002">608830.0002</a>) and gln189 to ter (Q189X; <a href="#0003">608830.0003</a>), each in homozygous state, and thr49 to met (T49M; <a href="#0004">608830.0004</a>) and arg62 to ter (R62X; <a href="#0005">608830.0005</a>) in compound heterozygosity. The severe visual impairment of individuals with mutations in RDH12 was in marked contrast to the mild visual deficiency in individuals with fundus albipunctatus (<a href="/entry/136880">136880</a>) caused by mutations in RDH5 (<a href="/entry/601617">601617</a>), encoding another retinol dehydrogenase. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15258582+12226107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.-L., Munnich, A., Kaplan, J., Rozet, J.-M. <strong>Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis.</strong> Am. J. Hum. Genet. 75: 639-646, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322982">Perrault et al. (2004)</a> studied a series of 110 unrelated patients with LCA; in 4.1% of the patients, they identified mutations in the RDH12 gene: 1 splice site (<a href="#0013">608830.0013</a>), 1 frameshift deletion (<a href="#0002">608830.0002</a>), 2 nonsense mutations (<a href="#0005">608830.0005</a>, <a href="#0006">608830.0006</a>), and 7 missense mutations (<a href="#0001">608830.0001</a>, <a href="#0007">608830.0007</a>-<a href="#0012">608830.0012</a>). All patients harboring RDH12 mutations had a severe yet progressive rod-cone dystrophy with severe macular atrophy but no or mild hyperopia; <a href="#5" class="mim-tip-reference" title="Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.-L., Munnich, A., Kaplan, J., Rozet, J.-M. <strong>Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis.</strong> Am. J. Hum. Genet. 75: 639-646, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322982">Perrault et al. (2004)</a> noted that this phenotype may represent the upper extreme of the spectrum of retinitis pigmentosa (RP; see <a href="/entry/268000">268000</a>). No RDH12 mutations were identified in patients presenting with congenital stationary cone-rod dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15322982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a cohort of 1,011 individuals diagnosed with autosomal recessive retinal dystrophy, <a href="#6" class="mim-tip-reference" title="Thompson, D. A., Janecke, A. R., Lange, J., Feathers, K. L., Hubner, C. A., McHenry, C. L., Stockton, D. W., Rammesmayer, G., Lupski, J. R., Antinolo, G., Ayuso, C., Baiget, M., and l1 others. <strong>Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.</strong> Hum. Molec. Genet. 14: 3865-3875, 2005. Note: Erratum: Hum. Molec. Genet. 15: 1559 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16269441/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16269441</a>] [<a href="https://doi.org/10.1093/hmg/ddi411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16269441">Thompson et al. (2005)</a> identified 20 different disease-associated RDH12 mutations in a total of 22 individuals. Haplotype analysis suggested a founder mutation for each of the 3 common mutations: L99I (<a href="#0010">608830.0010</a>), T155I (<a href="#0014">608830.0014</a>), and 806_810delCCCTG (<a href="#0002">608830.0002</a>). Patients typically presented with early disease that affected the function of both rods and cones and progressed to legal blindness in early adulthood. Eleven of the missense variants identified exhibited profound loss of catalytic activity when expressed in transiently transfected COS-7 cells and assayed for ability to convert all-trans retinal to all-trans retinol. Loss of function appeared to result from decreased protein stability, as expression levels were significantly reduced. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16269441" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large 6-generation family segregating autosomal dominant retinitis pigmentosa mapping to chromosome 14q (RP53; see <a href="/entry/612712">612712</a>), <a href="#2" class="mim-tip-reference" title="Fingert, J. H., Oh, K., Chung, M., Scheetz, T. E., Andorf, J. L., Johnson, R. M., Sheffield, V. C., Stone, E. M. <strong>Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.</strong> Arch. Ophthal. 126: 1301-1307, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18779497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18779497</a>] [<a href="https://doi.org/10.1001/archopht.126.9.1301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18779497">Fingert et al. (2008)</a> sequenced the candidate gene RDH12 and identified heterozygosity for a 1-bp deletion (<a href="#0015">608830.0015</a>) in 19 affected individuals that was not found in unaffected family members or in 158 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18779497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large, highly consanguineous pedigree segregating autosomal recessive early-onset retinitis pigmentosa, <a href="#1" class="mim-tip-reference" title="Benayoun, L., Spiegel, R., Auslender, N., Abbasi, A. H., Rizel, L., Hujeirat, Y., Salama, I., Garzozi, H. J., Allon-Shalev, S., Ben-Yosef, T. <strong>Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.</strong> Am. J. Med. Genet. 149A: 650-656, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19140180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19140180</a>] [<a href="https://doi.org/10.1002/ajmg.a.32634" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19140180">Benayoun et al. (2009)</a> identified a homozygous missense mutation (A126V; <a href="#0016">608830.0016</a>) that segregated with disease in 8 sibships. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19140180" 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=608830[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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28940313 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28940313;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28940313" 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=rs28940313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of 3 consanguineous Austrian kindreds with Leber congenital amaurosis-13 (LCA13; <a href="/entry/612712">612712</a>), <a href="#4" class="mim-tip-reference" title="Janecke, A. R., Thompson, D. A., Utermann, G., Becker, C., Hubner, C. A., Schmid, E., McHenry, C. L., Nair, A. R., Ruschendorf, F., Heckenlively, J., Wissinger, B., Nurnberg, P., Gal, A. <strong>Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.</strong> Nature Genet. 36: 850-854, 2004. Note: Erratum: Nature Genet. 36: 1024 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15258582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15258582</a>] [<a href="https://doi.org/10.1038/ng1394" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15258582">Janecke et al. (2004)</a> identified homozygosity for a 677A-G transition in exon 6 of the RDH12 gene, resulting in a tyr226-to-cys (Y226C) substitution. The same mutation was identified in 2 Austrian individuals with sporadic LCA13. <a href="#4" class="mim-tip-reference" title="Janecke, A. R., Thompson, D. A., Utermann, G., Becker, C., Hubner, C. A., Schmid, E., McHenry, C. L., Nair, A. R., Ruschendorf, F., Heckenlively, J., Wissinger, B., Nurnberg, P., Gal, A. <strong>Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.</strong> Nature Genet. 36: 850-854, 2004. Note: Erratum: Nature Genet. 36: 1024 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15258582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15258582</a>] [<a href="https://doi.org/10.1038/ng1394" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15258582">Janecke et al. (2004)</a> demonstrated that, when expressed in COS-7 cells, the cys226 variant had diminished activity in interconverting isomers of retinol and retinal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15258582" 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 members of a French family with LCA, <a href="#5" class="mim-tip-reference" title="Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.-L., Munnich, A., Kaplan, J., Rozet, J.-M. <strong>Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis.</strong> Am. J. Hum. Genet. 75: 639-646, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322982">Perrault et al. (2004)</a> identified the Y226C mutation in compound heterozygous state with a 523T-C transition in exon 5 of the RDH12 gene, resulting in a ser175-to-pro substitution (S175P; <a href="#0011">608830.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15322982" 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">rs386834261 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386834261;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs386834261" 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=rs386834261" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 19-year-old individual with Leber congenital amaurosis-13 (LCA13; <a href="/entry/612712">612712</a>), <a href="#4" class="mim-tip-reference" title="Janecke, A. R., Thompson, D. A., Utermann, G., Becker, C., Hubner, C. A., Schmid, E., McHenry, C. L., Nair, A. R., Ruschendorf, F., Heckenlively, J., Wissinger, B., Nurnberg, P., Gal, A. <strong>Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.</strong> Nature Genet. 36: 850-854, 2004. Note: Erratum: Nature Genet. 36: 1024 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15258582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15258582</a>] [<a href="https://doi.org/10.1038/ng1394" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15258582">Janecke et al. (2004)</a> identified a homozygous 5-bp deletion in exon 6 of the RDH12 gene, 806delCCCTG, resulting in a frameshift and a premature stop codon at position 269. Visual acuity was reduced to light reception in the right eye and 0.05 in the left eye. ERGs were extinguished, and the fundi showed heavy hyperpigmentation with bone spicule-like pattern. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15258582" 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 members of 4 unrelated French families with LCA13, <a href="#5" class="mim-tip-reference" title="Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.-L., Munnich, A., Kaplan, J., Rozet, J.-M. <strong>Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis.</strong> Am. J. Hum. Genet. 75: 639-646, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322982">Perrault et al. (2004)</a> identified the 806delCCCTG mutation. The mutation was present in homozygous state in 1 family; in the other 3 families it was present in compound heterozygous state with either a 451C-A transversion in exon 5, resulting in a his151-to-asn mutation (H151N; <a href="#0007">608830.0007</a>), a 687C-G transversion in exon 6, resulting in a pro230-to-ala substitution (P230A; <a href="#0008">608830.0008</a>), or a 658+1G-A (<a href="#0013">608830.0013</a>) splice site mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15322982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002129" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002129" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002129</a>
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<p>In a male patient of Turkish origin with Leber congenital amaurosis-13 (LCA13; <a href="/entry/612712">612712</a>), the offspring of consanguineous parents, <a href="#4" class="mim-tip-reference" title="Janecke, A. R., Thompson, D. A., Utermann, G., Becker, C., Hubner, C. A., Schmid, E., McHenry, C. L., Nair, A. R., Ruschendorf, F., Heckenlively, J., Wissinger, B., Nurnberg, P., Gal, A. <strong>Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.</strong> Nature Genet. 36: 850-854, 2004. Note: Erratum: Nature Genet. 36: 1024 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15258582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15258582</a>] [<a href="https://doi.org/10.1038/ng1394" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15258582">Janecke et al. (2004)</a> identified a homozygous 565C-T transition in exon 5 of the RDH12 gene, resulting in a gln189-to-ter (Q189X) substitution. The patient's sister was also diagnosed with LCA13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15258582" 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> rs28940314 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28940314;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/rs28940314?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=rs28940314" 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=rs28940314" 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=RCV000002130 OR RCV001091051 OR RCV001277201 OR RCV002267718 OR RCV004814796" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002130, RCV001091051, RCV001277201, RCV002267718, RCV004814796" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002130...</a>
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<p>In a woman with Leber congenital amaurosis-13 (LCA13; <a href="/entry/612712">612712</a>), the offspring of nonconsanguineous parents, <a href="#4" class="mim-tip-reference" title="Janecke, A. R., Thompson, D. A., Utermann, G., Becker, C., Hubner, C. A., Schmid, E., McHenry, C. L., Nair, A. R., Ruschendorf, F., Heckenlively, J., Wissinger, B., Nurnberg, P., Gal, A. <strong>Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.</strong> Nature Genet. 36: 850-854, 2004. Note: Erratum: Nature Genet. 36: 1024 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15258582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15258582</a>] [<a href="https://doi.org/10.1038/ng1394" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15258582">Janecke et al. (2004)</a> identified compound heterozygosity for mutations in exon 2 of the RDH12 gene: a 146C-T transition, resulting in a thr49-to-met (T49M) substitution, and a 184C-T transition, resulting in an arg62-to-ter (R62X; <a href="#0005">608830.0005</a>) substitution. <a href="#4" class="mim-tip-reference" title="Janecke, A. R., Thompson, D. A., Utermann, G., Becker, C., Hubner, C. A., Schmid, E., McHenry, C. L., Nair, A. R., Ruschendorf, F., Heckenlively, J., Wissinger, B., Nurnberg, P., Gal, A. <strong>Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.</strong> Nature Genet. 36: 850-854, 2004. Note: Erratum: Nature Genet. 36: 1024 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15258582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15258582</a>] [<a href="https://doi.org/10.1038/ng1394" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15258582">Janecke et al. (2004)</a> demonstrated that, when expressed in COS-7 cells, the met49 variant had aberrant activity in interconverting isomers of retinol and retinal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15258582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Thompson, D. A., Janecke, A. R., Lange, J., Feathers, K. L., Hubner, C. A., McHenry, C. L., Stockton, D. W., Rammesmayer, G., Lupski, J. R., Antinolo, G., Ayuso, C., Baiget, M., and l1 others. <strong>Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.</strong> Hum. Molec. Genet. 14: 3865-3875, 2005. Note: Erratum: Hum. Molec. Genet. 15: 1559 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16269441/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16269441</a>] [<a href="https://doi.org/10.1093/hmg/ddi411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16269441">Thompson et al. (2005)</a> found differing activity profiles for the T49M variant associated with each of the alleles of the R161Q RDH12 polymorphism, suggesting that genetic background may act as a modifier of mutation effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16269441" 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> rs104894471 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894471;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/rs104894471?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=rs104894471" 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=rs104894471" 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=RCV000002131 OR RCV001075533 OR RCV001254729 OR RCV001567801" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002131, RCV001075533, RCV001254729, RCV001567801" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002131...</a>
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<p>For discussion of the arg62-to-ter (R62X) mutation in the RDH12 gene that was found in compound heterozygous state in a patient with Leber congenital amaurosis-13 (LCA13; <a href="/entry/612712">612712</a>) by <a href="#4" class="mim-tip-reference" title="Janecke, A. R., Thompson, D. A., Utermann, G., Becker, C., Hubner, C. A., Schmid, E., McHenry, C. L., Nair, A. R., Ruschendorf, F., Heckenlively, J., Wissinger, B., Nurnberg, P., Gal, A. <strong>Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.</strong> Nature Genet. 36: 850-854, 2004. Note: Erratum: Nature Genet. 36: 1024 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15258582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15258582</a>] [<a href="https://doi.org/10.1038/ng1394" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15258582">Janecke et al. (2004)</a>, see <a href="#0004">608830.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15258582" 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 members of a French family with LCA13, <a href="#5" class="mim-tip-reference" title="Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.-L., Munnich, A., Kaplan, J., Rozet, J.-M. <strong>Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis.</strong> Am. J. Hum. Genet. 75: 639-646, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322982">Perrault et al. (2004)</a> identified compound heterozygosity for mutations in the RDH12 gene: the arg62-to-ter (R62X) substitution and a 152T-A transversion in exon 2, resulting in an ile51-to-asn (I51N; <a href="#0012">608830.0012</a>) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15322982" 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">rs104894474 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894474;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894474" 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=rs104894474" 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=RCV000002132 OR RCV000787672 OR RCV001091054 OR RCV004814797" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002132, RCV000787672, RCV001091054, RCV004814797" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002132...</a>
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<p>In affected members of a French family with Leber congenital amaurosis-13 (LCA13; <a href="/entry/612712">612712</a>), <a href="#5" class="mim-tip-reference" title="Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.-L., Munnich, A., Kaplan, J., Rozet, J.-M. <strong>Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis.</strong> Am. J. Hum. Genet. 75: 639-646, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322982">Perrault et al. (2004)</a> identified compound heterozygosity for mutations in the RDH12 gene: a 379G-T transversion in exon 4, resulting in a gly127-to-ter (G127X) substitution, and a 295C-A transversion in exon 3, resulting in a leu99-to-ile (L99I; <a href="#0010">608830.0010</a>) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15322982" 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> rs104894475 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894475;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/rs104894475?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=rs104894475" 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=rs104894475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the his151-to-asn (H151N) mutation in the RDH12 gene that was found in compound heterozygous state in patients with Leber congenital amaurosis-13 (LCA13; <a href="/entry/612712">612712</a>) by <a href="#5" class="mim-tip-reference" title="Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.-L., Munnich, A., Kaplan, J., Rozet, J.-M. <strong>Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis.</strong> Am. J. Hum. Genet. 75: 639-646, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322982">Perrault et al. (2004)</a>, see <a href="#0002">608830.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15322982" 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>.0008 LEBER CONGENITAL AMAUROSIS 13</strong>
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RDH12, PRO230ALA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894476 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894476;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894476" 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=rs104894476" 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=RCV000002134" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002134" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002134</a>
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<p>For discussion of the pro230-to-ala (P230A) mutation in the RDH12 gene that was found in compound heterozygous state in patients with Leber congenital amaurosis-13 (LCA13; <a href="/entry/612712">612712</a>) by <a href="#5" class="mim-tip-reference" title="Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.-L., Munnich, A., Kaplan, J., Rozet, J.-M. <strong>Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis.</strong> Am. J. Hum. Genet. 75: 639-646, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322982">Perrault et al. (2004)</a>, see <a href="#0002">608830.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15322982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<strong>.0009 LEBER CONGENITAL AMAUROSIS 13</strong>
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RDH12, HIS151ASP
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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> rs104894475 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894475;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/rs104894475?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=rs104894475" 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=rs104894475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002135 OR RCV000787674 OR RCV001171675 OR RCV004814798" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002135, RCV000787674, RCV001171675, RCV004814798" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002135...</a>
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<p>In affected members of a French family with Leber congenital amaurosis-13 (LCA13; <a href="/entry/612712">612712</a>), <a href="#5" class="mim-tip-reference" title="Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.-L., Munnich, A., Kaplan, J., Rozet, J.-M. <strong>Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis.</strong> Am. J. Hum. Genet. 75: 639-646, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322982">Perrault et al. (2004)</a> identified homozygosity for a 451C-G transversion in exon 5 of the RDH12 gene, resulting in a his151-to-asp (H151D) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15322982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0010" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0010 LEBER CONGENITAL AMAUROSIS 13</strong>
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RDH12, LEU99ILE
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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> rs28940315 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28940315;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/rs28940315?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=rs28940315" 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=rs28940315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002136 OR RCV000594844 OR RCV000993758 OR RCV001075855 OR RCV001277202" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002136, RCV000594844, RCV000993758, RCV001075855, RCV001277202" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002136...</a>
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<p>For discussion of the leu99-to-ile (L99I) mutation in the RDH12 gene that was found in compound heterozygous state in patients with Leber congenital amaurosis-13 (LCA13; <a href="/entry/612712">612712</a>) by <a href="#5" class="mim-tip-reference" title="Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.-L., Munnich, A., Kaplan, J., Rozet, J.-M. <strong>Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis.</strong> Am. J. Hum. Genet. 75: 639-646, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322982">Perrault et al. (2004)</a>, see <a href="#0006">608830.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15322982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0011" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0011 LEBER CONGENITAL AMAUROSIS 13</strong>
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RDH12, SER175PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894472 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894472;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894472" 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=rs104894472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002137" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002137" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002137</a>
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<p>For discussion of the ser175-to-pro (S175P) mutation in the RDH12 gene that was found in compound heterozygous state in patients with Leber congenital amaurosis-13 (LCA13; <a href="/entry/612712">612712</a>) by <a href="#5" class="mim-tip-reference" title="Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.-L., Munnich, A., Kaplan, J., Rozet, J.-M. <strong>Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis.</strong> Am. J. Hum. Genet. 75: 639-646, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322982">Perrault et al. (2004)</a>, see <a href="#0001">608830.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15322982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0012" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0012 LEBER CONGENITAL AMAUROSIS 13</strong>
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</span>
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</h4>
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RDH12, ILE51ASN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894473 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894473;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894473" 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=rs104894473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002138" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002138" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002138</a>
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<p>For discussion of the ile51-to-asn (I51N) mutation in the RDH12 gene that was found in compound heterozygous state in patients with Leber congenital amaurosis-13 (LCA13; <a href="/entry/612712">612712</a>) by <a href="#5" class="mim-tip-reference" title="Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.-L., Munnich, A., Kaplan, J., Rozet, J.-M. <strong>Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis.</strong> Am. J. Hum. Genet. 75: 639-646, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322982">Perrault et al. (2004)</a>, see <a href="#0005">608830.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15322982" 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">rs387906272 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906272;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906272" 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=rs387906272" 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=RCV000002139 OR RCV001003155" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002139, RCV001003155" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002139...</a>
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<p>For discussion of the splice site mutation in the RDH12 gene (658+1G-A) that was found in compound heterozygous state in patients with Leber congenital amaurosis-13 (LCA13; <a href="/entry/612712">612712</a>) by <a href="#5" class="mim-tip-reference" title="Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.-L., Munnich, A., Kaplan, J., Rozet, J.-M. <strong>Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis.</strong> Am. J. Hum. Genet. 75: 639-646, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322982">Perrault et al. (2004)</a>, see <a href="#0002">608830.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15322982" 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>.0014 LEBER CONGENITAL AMAUROSIS 13</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> rs121434337 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434337;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/rs121434337?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=rs121434337" 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=rs121434337" 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=RCV000002140 OR RCV001091055 OR RCV001826405 OR RCV003324481 OR RCV004584306 OR RCV004814799" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002140, RCV001091055, RCV001826405, RCV003324481, RCV004584306, RCV004814799" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002140...</a>
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<p>In 3 patients with Leber congenital amaurosis-13 (LCA13; <a href="/entry/612712">612712</a>), <a href="#6" class="mim-tip-reference" title="Thompson, D. A., Janecke, A. R., Lange, J., Feathers, K. L., Hubner, C. A., McHenry, C. L., Stockton, D. W., Rammesmayer, G., Lupski, J. R., Antinolo, G., Ayuso, C., Baiget, M., and l1 others. <strong>Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.</strong> Hum. Molec. Genet. 14: 3865-3875, 2005. Note: Erratum: Hum. Molec. Genet. 15: 1559 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16269441/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16269441</a>] [<a href="https://doi.org/10.1093/hmg/ddi411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16269441">Thompson et al. (2005)</a> identified a 464C-T transition in exon 5 of the RDH12 gene that resulted in a thr155-to-ile substitution (T155I). The mutation was homozygous in 2 patients and carried heterozygously on the maternal allele in the third; the paternal allele carried an H151D mutation (<a href="#0009">608830.0009</a>). Haplotype analysis indicated that the T115I substitution is a founder mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16269441" 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>.0015 RETINITIS PIGMENTOSA 53</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">rs527236099 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs527236099;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs527236099" 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=rs527236099" 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=RCV000002141 OR RCV000132692 OR RCV001050483 OR RCV001073449" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002141, RCV000132692, RCV001050483, RCV001073449" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002141...</a>
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<p>In affected members of a large 6-generation family segregating autosomal dominant retinitis pigmentosa (RP53; see <a href="/entry/612712">612712</a>), <a href="#2" class="mim-tip-reference" title="Fingert, J. H., Oh, K., Chung, M., Scheetz, T. E., Andorf, J. L., Johnson, R. M., Sheffield, V. C., Stone, E. M. <strong>Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.</strong> Arch. Ophthal. 126: 1301-1307, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18779497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18779497</a>] [<a href="https://doi.org/10.1001/archopht.126.9.1301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18779497">Fingert et al. (2008)</a> identified heterozygosity for a 1-bp deletion (776delG) in the RDH12 gene, resulting in a premature termination codon predicted to eliminate the highly conserved 57 terminal amino acids of RDH12. The mutation was not found in unaffected family members or in 158 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18779497" 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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RDH12, ALA126VAL
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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> rs202126574 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs202126574;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/rs202126574?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=rs202126574" 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=rs202126574" 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=RCV000002142 OR RCV000132691 OR RCV001073666 OR RCV001223788 OR RCV001558134 OR RCV003155010 OR RCV004734494" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002142, RCV000132691, RCV001073666, RCV001223788, RCV001558134, RCV003155010, RCV004734494" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002142...</a>
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<p>In 14 affected members from 8 sibships of a large, highly consanguineous pedigree segregating autosomal recessive early-onset retinitis pigmentosa (RP53; see <a href="/entry/612712">612712</a>), <a href="#1" class="mim-tip-reference" title="Benayoun, L., Spiegel, R., Auslender, N., Abbasi, A. H., Rizel, L., Hujeirat, Y., Salama, I., Garzozi, H. J., Allon-Shalev, S., Ben-Yosef, T. <strong>Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.</strong> Am. J. Med. Genet. 149A: 650-656, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19140180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19140180</a>] [<a href="https://doi.org/10.1002/ajmg.a.32634" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19140180">Benayoun et al. (2009)</a> identified homozygosity for a 377C-T transition in exon 4 of the RDH12 gene, resulting in an ala126-to-val (A126V) substitution at a conserved residue within the RDH domain. A 45-year-old male family member who was heterozygous for A126V appeared to have a subclinical phenotype: although he did not describe significant subjective visual difficulties and denied nyctalopia or photosensitivity, his photopic ERG was at the lower limit of the normal range and his scotopic ERG was markedly reduced. In a screen of 159 controls, 1 heterozygous carrier was detected, indicating a carrier frequency of 0.62% in this population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19140180" 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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Benayoun, L., Spiegel, R., Auslender, N., Abbasi, A. H., Rizel, L., Hujeirat, Y., Salama, I., Garzozi, H. J., Allon-Shalev, S., Ben-Yosef, T.
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<strong>Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.</strong>
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Am. J. Med. Genet. 149A: 650-656, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19140180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19140180</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19140180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fingert, J. H., Oh, K., Chung, M., Scheetz, T. E., Andorf, J. L., Johnson, R. M., Sheffield, V. C., Stone, E. M.
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<strong>Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.</strong>
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Arch. Ophthal. 126: 1301-1307, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18779497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18779497</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18779497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archopht.126.9.1301" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Haeseleer2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Haeseleer, F., Jang, G.-F., Imanishi, Y., Driessen, C. A. G. G., Matsumura, M., Nelson, P. S., Palczewski, K.
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<strong>Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina.</strong>
|
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J. Biol. Chem. 277: 45537-45546, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12226107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12226107</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12226107[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=12226107" 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/10.1074/jbc.M208882200" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Janecke2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Janecke, A. R., Thompson, D. A., Utermann, G., Becker, C., Hubner, C. A., Schmid, E., McHenry, C. L., Nair, A. R., Ruschendorf, F., Heckenlively, J., Wissinger, B., Nurnberg, P., Gal, A.
|
|
<strong>Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.</strong>
|
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Nature Genet. 36: 850-854, 2004. Note: Erratum: Nature Genet. 36: 1024 only, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15258582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15258582</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15258582" 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/ng1394" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Perrault2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.-L., Munnich, A., Kaplan, J., Rozet, J.-M.
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<strong>Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis.</strong>
|
|
Am. J. Hum. Genet. 75: 639-646, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322982[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=15322982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/424889" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Thompson2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thompson, D. A., Janecke, A. R., Lange, J., Feathers, K. L., Hubner, C. A., McHenry, C. L., Stockton, D. W., Rammesmayer, G., Lupski, J. R., Antinolo, G., Ayuso, C., Baiget, M., and l1 others.
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|
<strong>Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.</strong>
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Hum. Molec. Genet. 14: 3865-3875, 2005. Note: Erratum: Hum. Molec. Genet. 15: 1559 only, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16269441/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16269441</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16269441" 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/ddi411" target="_blank">Full Text</a>]
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</p>
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</div>
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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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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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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>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/7/2010
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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George E. Tiller - updated : 7/6/2009<br>Victor A. McKusick - updated : 9/9/2004<br>Victor A. McKusick - updated : 8/4/2004
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 8/4/2004
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</span>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/15/2015
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mcolton : 7/2/2015<br>joanna : 8/5/2013<br>terry : 11/28/2012<br>terry : 7/27/2012<br>carol : 10/7/2010<br>carol : 4/5/2010<br>alopez : 7/8/2009<br>terry : 7/6/2009<br>carol : 4/3/2009<br>terry : 11/2/2004<br>tkritzer : 9/13/2004<br>tkritzer : 9/10/2004<br>terry : 9/9/2004<br>terry : 9/9/2004<br>alopez : 9/3/2004<br>alopez : 8/4/2004<br>alopez : 8/4/2004<br>alopez : 8/4/2004
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 608830
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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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RETINOL DEHYDROGENASE 12; RDH12
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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RETINOL DEHYDROGENASE, ALL-TRANS AND 9-CIS
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: RDH12</em></strong>
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</span>
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</p>
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</div>
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<div>
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<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: 14q24.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 14:67,701,886-67,734,451 </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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<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-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="1">
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<span class="mim-font">
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14q24.1
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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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Leber congenital amaurosis 13
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
612712
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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 dominant; 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>Description</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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|
<p>Retinoids are indispensable light-sensitive elements of vision and also serve as essential modulators of cellular differentiation and proliferation in diverse cell types. RDH12 belongs to a family of dual-specificity retinol dehydrogenases that metabolize both all-trans- and cis-retinols (Haeseleer et al., 2002). </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>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>By searching databases for sequences similar to RDH11 (607849), followed by PCR of a retina cDNA library, Haeseleer et al. (2002) cloned RDH12. The deduced 316-amino acid RDH12 protein has a calculated molecular mass of about 35 kD and shares 79% similarity with RDH11. RDH12 contains 2 motifs highly conserved among short chain alcohol dehydrogenases/reductases, the cofactor-binding site and catalytic residues. EST database analysis indicated that RDH12 is expressed predominantly in eye and also in kidney, brain, skeletal muscle, and stomach. In situ hybridization to monkey and mouse retina indicated Rdh12 is expressed at the base of photoreceptor inner segments. </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>
|
|
<span class="mim-font">
|
|
<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>Haeseleer et al. (2002) determined that the RDH12 gene contains 7 exons and spans about 13 kb. </p>
|
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</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>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">
|
|
<p>By genomic sequence analysis, Haeseleer et al. (2002) mapped the RDH12 gene to chromosome 14q23.3, where it lies about 30 kb from the RDH11 gene and within the locus for the recessive blinding disease Leber congenital amaurosis-13 (LCA13; 612712). </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>
|
|
<span class="mim-font">
|
|
<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">
|
|
<p>Haeseleer et al. (2002) determined that recombinant RDH12 was expressed in insect cells as a membrane protein with enzymatic properties similar to those of RDH11. Both enzymes catalyzed the reduction of all-trans-retinal and its 9-cis-, 11-cis-, and 13-cis-retinal isomers in the presence of NADPH. Analysis of the reactions suggested that these enzymes catalyze the reaction in both directions (NADPH/retinals--NADP/retinols), with equal utilization of 11-cis-retinal and all trans-retinal. No steroid dehydrogenase activity was detected for RDH12. RDH12 activity was potently inhibited by retinoic acids, recombinant CRBP1 (180260), and CRALBP (180090). </p>
|
|
</span>
|
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<div>
|
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<br />
|
|
</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<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>Janecke et al. (2004) described 3 consanguineous kindreds with LCA13 (612712) in which relatedness seemed likely because of geographic proximity and similar disease phenotype, although genealogic studies could not link the families. A whole-genome scan by microarray analysis of SNPs identified a founder haplotype and defined a critical interval of 1.53 cM on 14q23.3-q24.1 that contained the RDH12 gene, encoding a retinol dehydrogenase thought to function in the visual cycle (Haeseleer et al., 2002). All affected family members studied from the 3 kindreds, as well as 2 Austrian individuals with sporadic LCA, were found to be homozygous for a tyr226-to-cys mutation in the RDH12 gene (Y226C; 608830.0001). Janecke et al. (2004) identified additional mutations in RDH12 in 3 of 89 non-Austrian individuals with LCA13: 806delCCCTG (608830.0002) and gln189 to ter (Q189X; 608830.0003), each in homozygous state, and thr49 to met (T49M; 608830.0004) and arg62 to ter (R62X; 608830.0005) in compound heterozygosity. The severe visual impairment of individuals with mutations in RDH12 was in marked contrast to the mild visual deficiency in individuals with fundus albipunctatus (136880) caused by mutations in RDH5 (601617), encoding another retinol dehydrogenase. </p><p>Perrault et al. (2004) studied a series of 110 unrelated patients with LCA; in 4.1% of the patients, they identified mutations in the RDH12 gene: 1 splice site (608830.0013), 1 frameshift deletion (608830.0002), 2 nonsense mutations (608830.0005, 608830.0006), and 7 missense mutations (608830.0001, 608830.0007-608830.0012). All patients harboring RDH12 mutations had a severe yet progressive rod-cone dystrophy with severe macular atrophy but no or mild hyperopia; Perrault et al. (2004) noted that this phenotype may represent the upper extreme of the spectrum of retinitis pigmentosa (RP; see 268000). No RDH12 mutations were identified in patients presenting with congenital stationary cone-rod dystrophy. </p><p>In a cohort of 1,011 individuals diagnosed with autosomal recessive retinal dystrophy, Thompson et al. (2005) identified 20 different disease-associated RDH12 mutations in a total of 22 individuals. Haplotype analysis suggested a founder mutation for each of the 3 common mutations: L99I (608830.0010), T155I (608830.0014), and 806_810delCCCTG (608830.0002). Patients typically presented with early disease that affected the function of both rods and cones and progressed to legal blindness in early adulthood. Eleven of the missense variants identified exhibited profound loss of catalytic activity when expressed in transiently transfected COS-7 cells and assayed for ability to convert all-trans retinal to all-trans retinol. Loss of function appeared to result from decreased protein stability, as expression levels were significantly reduced. </p><p>In a large 6-generation family segregating autosomal dominant retinitis pigmentosa mapping to chromosome 14q (RP53; see 612712), Fingert et al. (2008) sequenced the candidate gene RDH12 and identified heterozygosity for a 1-bp deletion (608830.0015) in 19 affected individuals that was not found in unaffected family members or in 158 controls. </p><p>In a large, highly consanguineous pedigree segregating autosomal recessive early-onset retinitis pigmentosa, Benayoun et al. (2009) identified a homozygous missense mutation (A126V; 608830.0016) that segregated with disease in 8 sibships. </p>
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</span>
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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>ALLELIC VARIANTS</strong>
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</span>
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<strong>16 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 LEBER CONGENITAL AMAUROSIS 13</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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RDH12, TYR226CYS
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<br />
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SNP: rs28940313,
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ClinVar: RCV000002127, RCV001073384, RCV001092306
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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 3 consanguineous Austrian kindreds with Leber congenital amaurosis-13 (LCA13; 612712), Janecke et al. (2004) identified homozygosity for a 677A-G transition in exon 6 of the RDH12 gene, resulting in a tyr226-to-cys (Y226C) substitution. The same mutation was identified in 2 Austrian individuals with sporadic LCA13. Janecke et al. (2004) demonstrated that, when expressed in COS-7 cells, the cys226 variant had diminished activity in interconverting isomers of retinol and retinal. </p><p>In affected members of a French family with LCA, Perrault et al. (2004) identified the Y226C mutation in compound heterozygous state with a 523T-C transition in exon 5 of the RDH12 gene, resulting in a ser175-to-pro substitution (S175P; 608830.0011). </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 LEBER CONGENITAL AMAUROSIS 13</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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RDH12, 5-BP DEL, NT806
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<br />
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SNP: rs386834261,
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ClinVar: RCV000002128, RCV000504734, RCV000504920, RCV000678608, RCV000726539, RCV000779141, RCV001277207
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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 19-year-old individual with Leber congenital amaurosis-13 (LCA13; 612712), Janecke et al. (2004) identified a homozygous 5-bp deletion in exon 6 of the RDH12 gene, 806delCCCTG, resulting in a frameshift and a premature stop codon at position 269. Visual acuity was reduced to light reception in the right eye and 0.05 in the left eye. ERGs were extinguished, and the fundi showed heavy hyperpigmentation with bone spicule-like pattern. </p><p>In affected members of 4 unrelated French families with LCA13, Perrault et al. (2004) identified the 806delCCCTG mutation. The mutation was present in homozygous state in 1 family; in the other 3 families it was present in compound heterozygous state with either a 451C-A transversion in exon 5, resulting in a his151-to-asn mutation (H151N; 608830.0007), a 687C-G transversion in exon 6, resulting in a pro230-to-ala substitution (P230A; 608830.0008), or a 658+1G-A (608830.0013) splice site 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 LEBER CONGENITAL AMAUROSIS 13</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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RDH12, GLN189TER
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<br />
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SNP: rs104894470,
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ClinVar: RCV000002129
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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 male patient of Turkish origin with Leber congenital amaurosis-13 (LCA13; 612712), the offspring of consanguineous parents, Janecke et al. (2004) identified a homozygous 565C-T transition in exon 5 of the RDH12 gene, resulting in a gln189-to-ter (Q189X) substitution. The patient's sister was also diagnosed with LCA13. </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 LEBER CONGENITAL AMAUROSIS 13</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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RDH12, THR49MET
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<br />
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SNP: rs28940314,
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gnomAD: rs28940314,
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ClinVar: RCV000002130, RCV001091051, RCV001277201, RCV002267718, RCV004814796
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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 woman with Leber congenital amaurosis-13 (LCA13; 612712), the offspring of nonconsanguineous parents, Janecke et al. (2004) identified compound heterozygosity for mutations in exon 2 of the RDH12 gene: a 146C-T transition, resulting in a thr49-to-met (T49M) substitution, and a 184C-T transition, resulting in an arg62-to-ter (R62X; 608830.0005) substitution. Janecke et al. (2004) demonstrated that, when expressed in COS-7 cells, the met49 variant had aberrant activity in interconverting isomers of retinol and retinal. </p><p>Thompson et al. (2005) found differing activity profiles for the T49M variant associated with each of the alleles of the R161Q RDH12 polymorphism, suggesting that genetic background may act as a modifier of mutation effect. </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">
|
|
<strong>.0005 LEBER CONGENITAL AMAUROSIS 13</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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RDH12, ARG62TER
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<br />
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SNP: rs104894471,
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gnomAD: rs104894471,
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ClinVar: RCV000002131, RCV001075533, RCV001254729, RCV001567801
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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>For discussion of the arg62-to-ter (R62X) mutation in the RDH12 gene that was found in compound heterozygous state in a patient with Leber congenital amaurosis-13 (LCA13; 612712) by Janecke et al. (2004), see 608830.0004. </p><p>In affected members of a French family with LCA13, Perrault et al. (2004) identified compound heterozygosity for mutations in the RDH12 gene: the arg62-to-ter (R62X) substitution and a 152T-A transversion in exon 2, resulting in an ile51-to-asn (I51N; 608830.0012) substitution. </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>.0006 LEBER CONGENITAL AMAUROSIS 13</strong>
|
|
</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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|
RDH12, GLY127TER
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<br />
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|
|
SNP: rs104894474,
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|
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ClinVar: RCV000002132, RCV000787672, RCV001091054, RCV004814797
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a French family with Leber congenital amaurosis-13 (LCA13; 612712), Perrault et al. (2004) identified compound heterozygosity for mutations in the RDH12 gene: a 379G-T transversion in exon 4, resulting in a gly127-to-ter (G127X) substitution, and a 295C-A transversion in exon 3, resulting in a leu99-to-ile (L99I; 608830.0010) substitution. </p>
|
|
</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>.0007 LEBER CONGENITAL AMAUROSIS 13</strong>
|
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</span>
|
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</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
RDH12, HIS151ASN
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<br />
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|
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SNP: rs104894475,
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gnomAD: rs104894475,
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ClinVar: RCV000002133
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the his151-to-asn (H151N) mutation in the RDH12 gene that was found in compound heterozygous state in patients with Leber congenital amaurosis-13 (LCA13; 612712) by Perrault et al. (2004), see 608830.0002. </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>.0008 LEBER CONGENITAL AMAUROSIS 13</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
RDH12, PRO230ALA
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<br />
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|
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SNP: rs104894476,
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|
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ClinVar: RCV000002134
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|
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</span>
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</div>
|
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the pro230-to-ala (P230A) mutation in the RDH12 gene that was found in compound heterozygous state in patients with Leber congenital amaurosis-13 (LCA13; 612712) by Perrault et al. (2004), see 608830.0002. </p>
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|
</span>
|
|
</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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 LEBER CONGENITAL AMAUROSIS 13</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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RDH12, HIS151ASP
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<br />
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|
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SNP: rs104894475,
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gnomAD: rs104894475,
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ClinVar: RCV000002135, RCV000787674, RCV001171675, RCV004814798
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</span>
|
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</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a French family with Leber congenital amaurosis-13 (LCA13; 612712), Perrault et al. (2004) identified homozygosity for a 451C-G transversion in exon 5 of the RDH12 gene, resulting in a his151-to-asp (H151D) substitution. </p>
|
|
</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">
|
|
<strong>.0010 LEBER CONGENITAL AMAUROSIS 13</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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RDH12, LEU99ILE
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<br />
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SNP: rs28940315,
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gnomAD: rs28940315,
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ClinVar: RCV000002136, RCV000594844, RCV000993758, RCV001075855, RCV001277202
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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>For discussion of the leu99-to-ile (L99I) mutation in the RDH12 gene that was found in compound heterozygous state in patients with Leber congenital amaurosis-13 (LCA13; 612712) by Perrault et al. (2004), see 608830.0006. </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>.0011 LEBER CONGENITAL AMAUROSIS 13</strong>
|
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</span>
|
|
</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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RDH12, SER175PRO
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<br />
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SNP: rs104894472,
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ClinVar: RCV000002137
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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>For discussion of the ser175-to-pro (S175P) mutation in the RDH12 gene that was found in compound heterozygous state in patients with Leber congenital amaurosis-13 (LCA13; 612712) by Perrault et al. (2004), see 608830.0001. </p>
|
|
</span>
|
|
</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>.0012 LEBER CONGENITAL AMAUROSIS 13</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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RDH12, ILE51ASN
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<br />
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SNP: rs104894473,
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ClinVar: RCV000002138
|
|
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</span>
|
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</div>
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<span class="mim-text-font">
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<p>For discussion of the ile51-to-asn (I51N) mutation in the RDH12 gene that was found in compound heterozygous state in patients with Leber congenital amaurosis-13 (LCA13; 612712) by Perrault et al. (2004), see 608830.0005. </p>
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<h4>
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<span class="mim-font">
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<strong>.0013 LEBER CONGENITAL AMAUROSIS 13</strong>
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</h4>
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<span class="mim-text-font">
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RDH12, 658G-A, +1
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<br />
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SNP: rs387906272,
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ClinVar: RCV000002139, RCV001003155
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</span>
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<span class="mim-text-font">
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<p>For discussion of the splice site mutation in the RDH12 gene (658+1G-A) that was found in compound heterozygous state in patients with Leber congenital amaurosis-13 (LCA13; 612712) by Perrault et al. (2004), see 608830.0002. </p>
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<h4>
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<span class="mim-font">
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<strong>.0014 LEBER CONGENITAL AMAUROSIS 13</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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RDH12, THR155ILE
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<br />
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SNP: rs121434337,
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gnomAD: rs121434337,
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ClinVar: RCV000002140, RCV001091055, RCV001826405, RCV003324481, RCV004584306, RCV004814799
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</span>
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</div>
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<span class="mim-text-font">
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<p>In 3 patients with Leber congenital amaurosis-13 (LCA13; 612712), Thompson et al. (2005) identified a 464C-T transition in exon 5 of the RDH12 gene that resulted in a thr155-to-ile substitution (T155I). The mutation was homozygous in 2 patients and carried heterozygously on the maternal allele in the third; the paternal allele carried an H151D mutation (608830.0009). Haplotype analysis indicated that the T115I substitution is a founder mutation. </p>
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<h4>
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<span class="mim-font">
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<strong>.0015 RETINITIS PIGMENTOSA 53</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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RDH12, 1-BP DEL, 776G
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<br />
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SNP: rs527236099,
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ClinVar: RCV000002141, RCV000132692, RCV001050483, RCV001073449
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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 large 6-generation family segregating autosomal dominant retinitis pigmentosa (RP53; see 612712), Fingert et al. (2008) identified heterozygosity for a 1-bp deletion (776delG) in the RDH12 gene, resulting in a premature termination codon predicted to eliminate the highly conserved 57 terminal amino acids of RDH12. The mutation was not found in unaffected family members or in 158 controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0016 RETINITIS PIGMENTOSA 53</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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RDH12, ALA126VAL
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<br />
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SNP: rs202126574,
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gnomAD: rs202126574,
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ClinVar: RCV000002142, RCV000132691, RCV001073666, RCV001223788, RCV001558134, RCV003155010, RCV004734494
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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 14 affected members from 8 sibships of a large, highly consanguineous pedigree segregating autosomal recessive early-onset retinitis pigmentosa (RP53; see 612712), Benayoun et al. (2009) identified homozygosity for a 377C-T transition in exon 4 of the RDH12 gene, resulting in an ala126-to-val (A126V) substitution at a conserved residue within the RDH domain. A 45-year-old male family member who was heterozygous for A126V appeared to have a subclinical phenotype: although he did not describe significant subjective visual difficulties and denied nyctalopia or photosensitivity, his photopic ERG was at the lower limit of the normal range and his scotopic ERG was markedly reduced. In a screen of 159 controls, 1 heterozygous carrier was detected, indicating a carrier frequency of 0.62% in this population. </p>
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</span>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Benayoun, L., Spiegel, R., Auslender, N., Abbasi, A. H., Rizel, L., Hujeirat, Y., Salama, I., Garzozi, H. J., Allon-Shalev, S., Ben-Yosef, T.
|
|
<strong>Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.</strong>
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Am. J. Med. Genet. 149A: 650-656, 2009.
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[PubMed: 19140180]
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[Full Text: https://doi.org/10.1002/ajmg.a.32634]
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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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Fingert, J. H., Oh, K., Chung, M., Scheetz, T. E., Andorf, J. L., Johnson, R. M., Sheffield, V. C., Stone, E. M.
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<strong>Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.</strong>
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Arch. Ophthal. 126: 1301-1307, 2008.
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[PubMed: 18779497]
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[Full Text: https://doi.org/10.1001/archopht.126.9.1301]
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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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Haeseleer, F., Jang, G.-F., Imanishi, Y., Driessen, C. A. G. G., Matsumura, M., Nelson, P. S., Palczewski, K.
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<strong>Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina.</strong>
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J. Biol. Chem. 277: 45537-45546, 2002.
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[PubMed: 12226107]
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[Full Text: https://doi.org/10.1074/jbc.M208882200]
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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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Janecke, A. R., Thompson, D. A., Utermann, G., Becker, C., Hubner, C. A., Schmid, E., McHenry, C. L., Nair, A. R., Ruschendorf, F., Heckenlively, J., Wissinger, B., Nurnberg, P., Gal, A.
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<strong>Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.</strong>
|
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Nature Genet. 36: 850-854, 2004. Note: Erratum: Nature Genet. 36: 1024 only, 2004.
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[PubMed: 15258582]
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[Full Text: https://doi.org/10.1038/ng1394]
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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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Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.-L., Munnich, A., Kaplan, J., Rozet, J.-M.
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|
<strong>Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis.</strong>
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Am. J. Hum. Genet. 75: 639-646, 2004.
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[PubMed: 15322982]
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[Full Text: https://doi.org/10.1086/424889]
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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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Thompson, D. A., Janecke, A. R., Lange, J., Feathers, K. L., Hubner, C. A., McHenry, C. L., Stockton, D. W., Rammesmayer, G., Lupski, J. R., Antinolo, G., Ayuso, C., Baiget, M., and l1 others.
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<strong>Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.</strong>
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Hum. Molec. Genet. 14: 3865-3875, 2005. Note: Erratum: Hum. Molec. Genet. 15: 1559 only, 2006.
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[PubMed: 16269441]
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[Full Text: https://doi.org/10.1093/hmg/ddi411]
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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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Marla J. F. O'Neill - updated : 10/7/2010<br>George E. Tiller - updated : 7/6/2009<br>Victor A. McKusick - updated : 9/9/2004<br>Victor A. McKusick - updated : 8/4/2004
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Patricia A. Hartz : 8/4/2004
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