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<title>
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Entry
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- *611408 - LEBERILIN LCA5; LCA5
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- OMIM
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<div id="mimSearch" class="hidden-print">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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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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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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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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<a href="/search/advanced/geneMap"> Gene Map </a>
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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">*611408</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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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li 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 role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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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 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/611408">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=ENSG00000135338;t=ENST00000369846" 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=167691" 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=611408" 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=ENSG00000135338;t=ENST00000369846" 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_001122769,NM_181714,XM_005248665,XM_011535504,XM_047418251" 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_001122769" 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=611408" 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=10791&isoform_id=10791_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/LCA5" 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/30046697,71658798,119569090,119569091,170650670,170650672,194387822,308219506,530383030,767942054,2217359822,2462606305,2462606307,2462606309" 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/Q86VQ0" 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=167691" 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=ENSG00000135338;t=ENST00000369846" 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=LCA5" 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=LCA5" 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+167691" 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/LCA5" 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:167691" 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/167691" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr6&hgg_gene=ENST00000369846.9&hgg_start=79484991&hgg_end=79538782&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:31923" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:31923" 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=611408[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=611408[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/ENSG00000135338" 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=LCA5" 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=LCA5" 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=LCA5" 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=LCA5&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/PA142671563" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:31923" 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/FBgn0036687.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:1923032" 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/LCA5#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:1923032" 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/167691/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=167691" 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://zfin.org/ZDB-GENE-090313-268" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
|
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
|
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=LCA5&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
611408
|
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</span>
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</span>
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</div>
|
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</div>
|
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
|
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LEBERILIN LCA5; LCA5
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
LCA5 GENE<br />
|
|
LEBERCILIN<br />
|
|
CHROMOSOME 6 OPEN READING FRAME 152; C6ORF152
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=LCA5" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">LCA5</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/6/665?start=-3&limit=10&highlight=665">6q14.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:79484991-79538782&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">6:79,484,991-79,538,782</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</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>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/6/665?start=-3&limit=10&highlight=665">
|
|
6q14.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Leber congenital amaurosis 5
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/604537"> 604537 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
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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>Using homozygosity mapping in the Leber congenital amaurosis-5 (LCA5; <a href="/entry/604537">604537</a>) critical region on chromosome 6q, followed by PCR of an available clone, <a href="#2" class="mim-tip-reference" title="den Hollander, A. I., Koenekoop, R. K., Mohamed, M. D., Arts, H. H., Boldt, K., Towns, K. V., Sedmak, T., Beer, M., Nagel-Wolfrum, K., McKibbin, M., Dharmaraj, S., Lopez, I., and 21 others. <strong>Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.</strong> Nature Genet. 39: 889-895, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546029</a>] [<a href="https://doi.org/10.1038/ng2066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546029">den Hollander et al. (2007)</a> obtained a full-length cDNA encoding lebercilin. The deduced 697-amino acid protein contains 4 coiled-coil domains. RT-PCR detected high expression in adult retina, testis, kidney, and heart, and in fetal eye, cochlea, and brain. Little to no expression was detected in adult brain, lung, and skeletal muscle. In situ hybridization of mouse embryos at day 12.5 postcoitum detected almost ubiquitous, low level staining. At later stages, staining of the eye, inner ear, kidney, regions of the central and peripheral neural system, the gut, and the ciliated epithelium of the nasopharynx, trachea, and lungs was more pronounced. In adult eye, expression was limited to the photoreceptor cell layer. In ciliated cell lines, lebercilin localized to the ciliary axoneme, and in mouse and rat retina, it localized between the outer and inner segments of the photoreceptor layer. Retinal epithelial cells overexpressing fluorescence-tagged lebercilin showed staining of the basal body, transition zone of the cilium, and microtubules. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546029" 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="#2" class="mim-tip-reference" title="den Hollander, A. I., Koenekoop, R. K., Mohamed, M. D., Arts, H. H., Boldt, K., Towns, K. V., Sedmak, T., Beer, M., Nagel-Wolfrum, K., McKibbin, M., Dharmaraj, S., Lopez, I., and 21 others. <strong>Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.</strong> Nature Genet. 39: 889-895, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546029</a>] [<a href="https://doi.org/10.1038/ng2066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546029">Den Hollander et al. (2007)</a> determined that the LCA5 gene contains 9 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546029" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The C6ORF152 gene maps to chromosome 16q14.1 based on an alignment of the C6ORF152 sequence (<a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AL391840" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AL391840</a>) with the genomic sequence (build 36.2).</p>
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<p><a href="#2" class="mim-tip-reference" title="den Hollander, A. I., Koenekoop, R. K., Mohamed, M. D., Arts, H. H., Boldt, K., Towns, K. V., Sedmak, T., Beer, M., Nagel-Wolfrum, K., McKibbin, M., Dharmaraj, S., Lopez, I., and 21 others. <strong>Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.</strong> Nature Genet. 39: 889-895, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546029</a>] [<a href="https://doi.org/10.1038/ng2066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546029">Den Hollander et al. (2007)</a> showed that overexpression of lebercilin in a human retinal pigment epithelium cell line disturbed microtubule dynamics. In human embryonic kidney cells, tagged lebercilin interacted with 24 proteins, many of which are associated with centrosomal or ciliary functions, including cytoplasmic dynein (see <a href="/entry/600112">600112</a>), nucleophosmin (see <a href="/entry/164040">164040</a>), nucleolin (<a href="/entry/164035">164035</a>), 14-3-3-epsilon (<a href="/entry/605066">605066</a>), and HSP70 (see <a href="/entry/140550">140550</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546029" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using yeast 2-hybrid analysis and coimmunoprecipitation assays, <a href="#1" class="mim-tip-reference" title="Coene, K. L. M., Roepman, R., Doherty, D., Afroze, B., Kroes, H. Y., Letteboer, S. J. F., Ngu, L. H., Budny, B., van Wijk, E., Gorden, N. T., Azhimi, M., Thauvin-Robinet, C., Veltman, J. A., Boink, M., Kleefstra, T., Cremers, F. P. M., van Bokhoven, H., de Brouwer, A. P. M. <strong>OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.</strong> Am. J. Hum. Genet. 85: 465-481, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19800048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19800048</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19800048[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/10.1016/j.ajhg.2009.09.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19800048">Coene et al. (2009)</a> identified lebercilin as an interacting partner of CXORF5 (<a href="/entry/300170">300170</a>). The first 2 coiled-coil domains of lebercilin interacted with 5 of the 6 predicted coiled-coil regions of CXORF5. Both proteins were found to localize to the pericentriolar region in human and rat retinal cell lines. Mutations in the CXORF5 gene were found to weaken the interaction with LCA5 to varying degrees. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19800048" 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>By yeast 2-hybrid analysis using deletion constructs of lebercilin and the intracellular region of USH2A (<a href="/entry/608400">608400</a>) isoform B, <a href="#5" class="mim-tip-reference" title="van Wijk, E., Kersten, F. F. J., Kartono, A., Mans, D. A., Brandwijk, K., Letteboer, S. J. F., Peters, T. A., Marker, T., Yan, X., Cremers, C. W. R. J., Cremers, F. P. M., Wolfrum, U., Roepman, R., Kremer, H. <strong>Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.</strong> Hum. Molec. Genet. 18: 51-64, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18826961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18826961</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18826961[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddn312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18826961">van Wijk et al. (2009)</a> showed that the intermediate filament region of NLP(isoB) (NINL; <a href="/entry/609580">609580</a>) interacts with lebercilin and USH2A(isoB), whereas no interaction was detected for NLP(isoA). Coimmunoprecipitation and GST pull-down assays confirmed interaction between NLP(isoB) and lebercilin and USH2A. Recombinant NLP(isoB), lebercilin, and USH2A(isoB) were all found to colocalize at the centrosomes in human retinal pigment epithelial (ARPE-19) cells. Staining of adult rat retinal sections with specific antibodies against all 3 proteins revealed their colocalization at the basal bodies of the photoreceptor-connecting cilia. A truncation mutation (<a href="#0003">611408.0003</a>) in lebercilin reduced interaction and colocalization with NLP(isoB); however, RNAi knockdown of both endogenous NLP and lebercilin in ciliated ARPE-19 cells did not result in altered protein localization of NLP or lebercilin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18826961" 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="#2" class="mim-tip-reference" title="den Hollander, A. I., Koenekoop, R. K., Mohamed, M. D., Arts, H. H., Boldt, K., Towns, K. V., Sedmak, T., Beer, M., Nagel-Wolfrum, K., McKibbin, M., Dharmaraj, S., Lopez, I., and 21 others. <strong>Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.</strong> Nature Genet. 39: 889-895, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546029</a>] [<a href="https://doi.org/10.1038/ng2066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546029">Den Hollander et al. (2007)</a> found that all members with Leber congenital amaurosis-5 (LCA5; <a href="/entry/604537">604537</a>) from 3 Pakistani families that shared an identical homozygous 780-kb haplotype on 6q14, including the family reported by <a href="#4" class="mim-tip-reference" title="Mohamed, M. D., Topping, N. C., Jafri, H., Raashed, Y., McKibbon, M. A., Inglehearn, C. F. <strong>Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.</strong> Brit. J. Ophthal. 87: 473-475, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12642313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12642313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12642313[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/10.1136/bjo.87.4.473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12642313">Mohamed et al. (2003)</a>, carried a homozygous frameshift mutation in exon 6 of the LCA5 gene (<a href="#0001">611408.0001</a>). By sequence analysis of the LCA5 gene in other affected individuals, they identified 3 additional mutations (<a href="#0002">611408.0002</a>-<a href="#0004">611408.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17546029+12642313" 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> rs386834252 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386834252;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/rs386834252?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=rs386834252" 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=rs386834252" 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 Pakistani families segregating Leber congenital amaurosis-5 (LCA5; <a href="/entry/604537">604537</a>), including the family reported by <a href="#4" class="mim-tip-reference" title="Mohamed, M. D., Topping, N. C., Jafri, H., Raashed, Y., McKibbon, M. A., Inglehearn, C. F. <strong>Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.</strong> Brit. J. Ophthal. 87: 473-475, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12642313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12642313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12642313[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/10.1136/bjo.87.4.473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12642313">Mohamed et al. (2003)</a>, <a href="#2" class="mim-tip-reference" title="den Hollander, A. I., Koenekoop, R. K., Mohamed, M. D., Arts, H. H., Boldt, K., Towns, K. V., Sedmak, T., Beer, M., Nagel-Wolfrum, K., McKibbin, M., Dharmaraj, S., Lopez, I., and 21 others. <strong>Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.</strong> Nature Genet. 39: 889-895, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546029</a>] [<a href="https://doi.org/10.1038/ng2066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546029">den Hollander et al. (2007)</a> identified homozygosity for deletion of a cytosine at position 1151 in exon 6 of the LCA5 gene, resulting in a frameshift mutation (Pro384GlnfsTer17). The mutation was not found in 180 control individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17546029+12642313" 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">rs386834253 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386834253;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=rs386834253" 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=rs386834253" 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 patient with Leber congenital amaurosis-5 (LCA5; <a href="/entry/604537">604537</a>) from a consanguineous family in Morocco, <a href="#2" class="mim-tip-reference" title="den Hollander, A. I., Koenekoop, R. K., Mohamed, M. D., Arts, H. H., Boldt, K., Towns, K. V., Sedmak, T., Beer, M., Nagel-Wolfrum, K., McKibbin, M., Dharmaraj, S., Lopez, I., and 21 others. <strong>Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.</strong> Nature Genet. 39: 889-895, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546029</a>] [<a href="https://doi.org/10.1038/ng2066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546029">den Hollander et al. (2007)</a> identified homozygosity for a 1-bp duplication (1476A) in exon 9 of the LCA5 gene, resulting in a frameshift mutation (Pro493ThrfsTer1). The mutation was not found in 180 control individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546029" 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> rs121918165 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918165;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/rs121918165?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=rs121918165" 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=rs121918165" 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=RCV000001019 OR RCV000190663 OR RCV000812173 OR RCV001003073 OR RCV001073263" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001019, RCV000190663, RCV000812173, RCV001003073, RCV001073263" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001019...</a>
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<p>In a patient with Leber congenital amaurosis-5 (LCA5; <a href="/entry/604537">604537</a>) from a nonconsanguineous family of Ashkenazi Jewish descent, <a href="#2" class="mim-tip-reference" title="den Hollander, A. I., Koenekoop, R. K., Mohamed, M. D., Arts, H. H., Boldt, K., Towns, K. V., Sedmak, T., Beer, M., Nagel-Wolfrum, K., McKibbin, M., Dharmaraj, S., Lopez, I., and 21 others. <strong>Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.</strong> Nature Genet. 39: 889-895, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546029</a>] [<a href="https://doi.org/10.1038/ng2066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546029">den Hollander et al. (2007)</a> identified homozygosity for an 835C-T transition in exon 5 of the LCA5 gene, resulting in a gln279-to-ter (Q279X) substitution. The mutation was not found in 180 control individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546029" 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=RCV000001020" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001020" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001020</a>
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<p>In affected members of the Old Order River Brethren with Leber congenital amaurosis-5 (LCA5; <a href="/entry/604537">604537</a>) originally reported by <a href="#3" class="mim-tip-reference" title="Dharmaraj, S., Li, Y., Robitaille, J. M., Silva, E., Zhu, D., Mitchell, T. N., Maltby, L. P., Baffoe-Bonnie, A. B., Maumenee, I. H. <strong>A novel locus for Leber congenital amaurosis maps to chromosome 6q. (Letter)</strong> Am. J. Hum. Genet. 66: 319-326, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10631161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10631161</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10631161[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/10.1086/302719" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10631161">Dharmaraj et al. (2000)</a>, <a href="#2" class="mim-tip-reference" title="den Hollander, A. I., Koenekoop, R. K., Mohamed, M. D., Arts, H. H., Boldt, K., Towns, K. V., Sedmak, T., Beer, M., Nagel-Wolfrum, K., McKibbin, M., Dharmaraj, S., Lopez, I., and 21 others. <strong>Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.</strong> Nature Genet. 39: 889-895, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546029</a>] [<a href="https://doi.org/10.1038/ng2066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546029">den Hollander et al. (2007)</a> identified a 1,598-bp deletion in the LCA5 gene that encompassed 1,077 bp of the promoter region and noncoding exon 1 (g.(-19612)-(-18015)del1598). The mutation was not found in 180 control individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10631161+17546029" 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="Zernant, J., Kulm, M., Dharmaraj, S., den Hollander, A. I., Perrault, I., Preising, M. N., Lorenz, B., Kaplan, J., Cremers, F. P. M., Maumenee, I., Koenekoop, R. K., Allikmets, R. <strong>Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.</strong> Invest. Ophthal. Vis. Sci. 46: 3052-3059, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16123401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16123401</a>] [<a href="https://doi.org/10.1167/iovs.05-0111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16123401">Zernant et al. (2005)</a> studied 2 affected sibs from the Old Order River Brethren pedigree originally reported by <a href="#3" class="mim-tip-reference" title="Dharmaraj, S., Li, Y., Robitaille, J. M., Silva, E., Zhu, D., Mitchell, T. N., Maltby, L. P., Baffoe-Bonnie, A. B., Maumenee, I. H. <strong>A novel locus for Leber congenital amaurosis maps to chromosome 6q. (Letter)</strong> Am. J. Hum. Genet. 66: 319-326, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10631161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10631161</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10631161[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/10.1086/302719" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10631161">Dharmaraj et al. (2000)</a> and identified an additional missense mutation in the GUCY2D gene (<a href="/entry/600179">600179</a>) in the more severely affected of the 2 sibs. <a href="#6" class="mim-tip-reference" title="Zernant, J., Kulm, M., Dharmaraj, S., den Hollander, A. I., Perrault, I., Preising, M. N., Lorenz, B., Kaplan, J., Cremers, F. P. M., Maumenee, I., Koenekoop, R. K., Allikmets, R. <strong>Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.</strong> Invest. Ophthal. Vis. Sci. 46: 3052-3059, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16123401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16123401</a>] [<a href="https://doi.org/10.1167/iovs.05-0111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16123401">Zernant et al. (2005)</a> suggested that the variant GUCY2D allele had a modifier effect on the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16123401+10631161" 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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Coene, K. L. M., Roepman, R., Doherty, D., Afroze, B., Kroes, H. Y., Letteboer, S. J. F., Ngu, L. H., Budny, B., van Wijk, E., Gorden, N. T., Azhimi, M., Thauvin-Robinet, C., Veltman, J. A., Boink, M., Kleefstra, T., Cremers, F. P. M., van Bokhoven, H., de Brouwer, A. P. M.
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<strong>OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.</strong>
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Am. J. Hum. Genet. 85: 465-481, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19800048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19800048</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19800048[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=19800048" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2009.09.002" target="_blank">Full Text</a>]
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<strong>Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.</strong>
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Nature Genet. 39: 889-895, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546029</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546029" 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/ng2066" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Dharmaraj2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Dharmaraj, S., Li, Y., Robitaille, J. M., Silva, E., Zhu, D., Mitchell, T. N., Maltby, L. P., Baffoe-Bonnie, A. B., Maumenee, I. H.
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<strong>A novel locus for Leber congenital amaurosis maps to chromosome 6q. (Letter)</strong>
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Am. J. Hum. Genet. 66: 319-326, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10631161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10631161</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10631161[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=10631161" 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/10.1086/302719" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Mohamed2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mohamed, M. D., Topping, N. C., Jafri, H., Raashed, Y., McKibbon, M. A., Inglehearn, C. F.
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<strong>Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.</strong>
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Brit. J. Ophthal. 87: 473-475, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12642313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12642313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12642313[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=12642313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/bjo.87.4.473" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="van Wijk2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Wijk, E., Kersten, F. F. J., Kartono, A., Mans, D. A., Brandwijk, K., Letteboer, S. J. F., Peters, T. A., Marker, T., Yan, X., Cremers, C. W. R. J., Cremers, F. P. M., Wolfrum, U., Roepman, R., Kremer, H.
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<strong>Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.</strong>
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Hum. Molec. Genet. 18: 51-64, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18826961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18826961</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18826961[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=18826961" 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/ddn312" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Zernant2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zernant, J., Kulm, M., Dharmaraj, S., den Hollander, A. I., Perrault, I., Preising, M. N., Lorenz, B., Kaplan, J., Cremers, F. P. M., Maumenee, I., Koenekoop, R. K., Allikmets, R.
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<strong>Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.</strong>
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Invest. Ophthal. Vis. Sci. 46: 3052-3059, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16123401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16123401</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16123401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1167/iovs.05-0111" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 01/13/2010
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</span>
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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 : 10/23/2009<br>Cassandra L. Kniffin - updated : 10/19/2009<br>Joanna S. Amberger - updated : 9/10/2007<br>Carol A. Bocchini - updated : 9/5/2007
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<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 : 9/4/2007
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<a id="editHistory" class="mim-anchor"></a>
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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 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 : 03/16/2021
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 03/15/2021<br>carol : 04/28/2017<br>carol : 01/13/2010<br>wwang : 11/4/2009<br>terry : 10/23/2009<br>wwang : 10/19/2009<br>ckniffin : 10/19/2009<br>carol : 4/3/2009<br>joanna : 9/10/2007<br>carol : 9/5/2007<br>carol : 9/4/2007<br>carol : 9/4/2007
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611408
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<h3>
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<span class="mim-font">
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LEBERILIN LCA5; LCA5
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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LCA5 GENE<br />
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LEBERCILIN<br />
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CHROMOSOME 6 OPEN READING FRAME 152; C6ORF152
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</span>
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<div>
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<br />
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: LCA5</em></strong>
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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: 6q14.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 6:79,484,991-79,538,782 </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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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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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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<td rowspan="1">
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<span class="mim-font">
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6q14.1
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<td>
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<span class="mim-font">
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Leber congenital amaurosis 5
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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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604537
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<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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<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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</h4>
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<span class="mim-text-font">
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<p>Using homozygosity mapping in the Leber congenital amaurosis-5 (LCA5; 604537) critical region on chromosome 6q, followed by PCR of an available clone, den Hollander et al. (2007) obtained a full-length cDNA encoding lebercilin. The deduced 697-amino acid protein contains 4 coiled-coil domains. RT-PCR detected high expression in adult retina, testis, kidney, and heart, and in fetal eye, cochlea, and brain. Little to no expression was detected in adult brain, lung, and skeletal muscle. In situ hybridization of mouse embryos at day 12.5 postcoitum detected almost ubiquitous, low level staining. At later stages, staining of the eye, inner ear, kidney, regions of the central and peripheral neural system, the gut, and the ciliated epithelium of the nasopharynx, trachea, and lungs was more pronounced. In adult eye, expression was limited to the photoreceptor cell layer. In ciliated cell lines, lebercilin localized to the ciliary axoneme, and in mouse and rat retina, it localized between the outer and inner segments of the photoreceptor layer. Retinal epithelial cells overexpressing fluorescence-tagged lebercilin showed staining of the basal body, transition zone of the cilium, and microtubules. </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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<strong>Gene Structure</strong>
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<span class="mim-text-font">
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<p>Den Hollander et al. (2007) determined that the LCA5 gene contains 9 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The C6ORF152 gene maps to chromosome 16q14.1 based on an alignment of the C6ORF152 sequence (AL391840) with the genomic sequence (build 36.2).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Den Hollander et al. (2007) showed that overexpression of lebercilin in a human retinal pigment epithelium cell line disturbed microtubule dynamics. In human embryonic kidney cells, tagged lebercilin interacted with 24 proteins, many of which are associated with centrosomal or ciliary functions, including cytoplasmic dynein (see 600112), nucleophosmin (see 164040), nucleolin (164035), 14-3-3-epsilon (605066), and HSP70 (see 140550). </p><p>Using yeast 2-hybrid analysis and coimmunoprecipitation assays, Coene et al. (2009) identified lebercilin as an interacting partner of CXORF5 (300170). The first 2 coiled-coil domains of lebercilin interacted with 5 of the 6 predicted coiled-coil regions of CXORF5. Both proteins were found to localize to the pericentriolar region in human and rat retinal cell lines. Mutations in the CXORF5 gene were found to weaken the interaction with LCA5 to varying degrees. </p><p>By yeast 2-hybrid analysis using deletion constructs of lebercilin and the intracellular region of USH2A (608400) isoform B, van Wijk et al. (2009) showed that the intermediate filament region of NLP(isoB) (NINL; 609580) interacts with lebercilin and USH2A(isoB), whereas no interaction was detected for NLP(isoA). Coimmunoprecipitation and GST pull-down assays confirmed interaction between NLP(isoB) and lebercilin and USH2A. Recombinant NLP(isoB), lebercilin, and USH2A(isoB) were all found to colocalize at the centrosomes in human retinal pigment epithelial (ARPE-19) cells. Staining of adult rat retinal sections with specific antibodies against all 3 proteins revealed their colocalization at the basal bodies of the photoreceptor-connecting cilia. A truncation mutation (611408.0003) in lebercilin reduced interaction and colocalization with NLP(isoB); however, RNAi knockdown of both endogenous NLP and lebercilin in ciliated ARPE-19 cells did not result in altered protein localization of NLP or lebercilin. </p>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Den Hollander et al. (2007) found that all members with Leber congenital amaurosis-5 (LCA5; 604537) from 3 Pakistani families that shared an identical homozygous 780-kb haplotype on 6q14, including the family reported by Mohamed et al. (2003), carried a homozygous frameshift mutation in exon 6 of the LCA5 gene (611408.0001). By sequence analysis of the LCA5 gene in other affected individuals, they identified 3 additional mutations (611408.0002-611408.0004). </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>ALLELIC VARIANTS</strong>
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</span>
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<strong>4 Selected Examples):</strong>
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</h4>
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<div>
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<p />
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<span class="mim-font">
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<strong>.0001 LEBER CONGENITAL AMAUROSIS 5</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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LCA5, 1-BP DEL, 1151C
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<br />
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SNP: rs386834252,
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gnomAD: rs386834252,
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ClinVar: RCV000001017, RCV001057042, RCV001271951, RCV004814787
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</span>
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<p>In affected members of 3 Pakistani families segregating Leber congenital amaurosis-5 (LCA5; 604537), including the family reported by Mohamed et al. (2003), den Hollander et al. (2007) identified homozygosity for deletion of a cytosine at position 1151 in exon 6 of the LCA5 gene, resulting in a frameshift mutation (Pro384GlnfsTer17). The mutation was not found in 180 control individuals. </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>.0002 LEBER CONGENITAL AMAUROSIS 5</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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LCA5, 1-BP DUP, 1476A
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<br />
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SNP: rs386834253,
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ClinVar: RCV000001018
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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 patient with Leber congenital amaurosis-5 (LCA5; 604537) from a consanguineous family in Morocco, den Hollander et al. (2007) identified homozygosity for a 1-bp duplication (1476A) in exon 9 of the LCA5 gene, resulting in a frameshift mutation (Pro493ThrfsTer1). The mutation was not found in 180 control individuals. </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 5</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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LCA5, GLN279TER
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<br />
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SNP: rs121918165,
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gnomAD: rs121918165,
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ClinVar: RCV000001019, RCV000190663, RCV000812173, RCV001003073, RCV001073263
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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 patient with Leber congenital amaurosis-5 (LCA5; 604537) from a nonconsanguineous family of Ashkenazi Jewish descent, den Hollander et al. (2007) identified homozygosity for an 835C-T transition in exon 5 of the LCA5 gene, resulting in a gln279-to-ter (Q279X) substitution. The mutation was not found in 180 control individuals. </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 5</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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LCA5, 1,598-BP DEL
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<br />
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ClinVar: RCV000001020
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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 the Old Order River Brethren with Leber congenital amaurosis-5 (LCA5; 604537) originally reported by Dharmaraj et al. (2000), den Hollander et al. (2007) identified a 1,598-bp deletion in the LCA5 gene that encompassed 1,077 bp of the promoter region and noncoding exon 1 (g.(-19612)-(-18015)del1598). The mutation was not found in 180 control individuals. </p><p>Zernant et al. (2005) studied 2 affected sibs from the Old Order River Brethren pedigree originally reported by Dharmaraj et al. (2000) and identified an additional missense mutation in the GUCY2D gene (600179) in the more severely affected of the 2 sibs. Zernant et al. (2005) suggested that the variant GUCY2D allele had a modifier effect on the phenotype. </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>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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Coene, K. L. M., Roepman, R., Doherty, D., Afroze, B., Kroes, H. Y., Letteboer, S. J. F., Ngu, L. H., Budny, B., van Wijk, E., Gorden, N. T., Azhimi, M., Thauvin-Robinet, C., Veltman, J. A., Boink, M., Kleefstra, T., Cremers, F. P. M., van Bokhoven, H., de Brouwer, A. P. M.
|
|
<strong>OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.</strong>
|
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Am. J. Hum. Genet. 85: 465-481, 2009.
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[PubMed: 19800048]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.09.002]
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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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den Hollander, A. I., Koenekoop, R. K., Mohamed, M. D., Arts, H. H., Boldt, K., Towns, K. V., Sedmak, T., Beer, M., Nagel-Wolfrum, K., McKibbin, M., Dharmaraj, S., Lopez, I., and 21 others.
|
|
<strong>Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.</strong>
|
|
Nature Genet. 39: 889-895, 2007.
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[PubMed: 17546029]
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[Full Text: https://doi.org/10.1038/ng2066]
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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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Dharmaraj, S., Li, Y., Robitaille, J. M., Silva, E., Zhu, D., Mitchell, T. N., Maltby, L. P., Baffoe-Bonnie, A. B., Maumenee, I. H.
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|
<strong>A novel locus for Leber congenital amaurosis maps to chromosome 6q. (Letter)</strong>
|
|
Am. J. Hum. Genet. 66: 319-326, 2000.
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[PubMed: 10631161]
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[Full Text: https://doi.org/10.1086/302719]
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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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Mohamed, M. D., Topping, N. C., Jafri, H., Raashed, Y., McKibbon, M. A., Inglehearn, C. F.
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<strong>Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.</strong>
|
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Brit. J. Ophthal. 87: 473-475, 2003.
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[PubMed: 12642313]
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[Full Text: https://doi.org/10.1136/bjo.87.4.473]
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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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van Wijk, E., Kersten, F. F. J., Kartono, A., Mans, D. A., Brandwijk, K., Letteboer, S. J. F., Peters, T. A., Marker, T., Yan, X., Cremers, C. W. R. J., Cremers, F. P. M., Wolfrum, U., Roepman, R., Kremer, H.
|
|
<strong>Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.</strong>
|
|
Hum. Molec. Genet. 18: 51-64, 2009.
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[PubMed: 18826961]
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[Full Text: https://doi.org/10.1093/hmg/ddn312]
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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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Zernant, J., Kulm, M., Dharmaraj, S., den Hollander, A. I., Perrault, I., Preising, M. N., Lorenz, B., Kaplan, J., Cremers, F. P. M., Maumenee, I., Koenekoop, R. K., Allikmets, R.
|
|
<strong>Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.</strong>
|
|
Invest. Ophthal. Vis. Sci. 46: 3052-3059, 2005.
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[PubMed: 16123401]
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[Full Text: https://doi.org/10.1167/iovs.05-0111]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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Marla J. F. O'Neill - updated : 01/13/2010<br>George E. Tiller - updated : 10/23/2009<br>Cassandra L. Kniffin - updated : 10/19/2009<br>Joanna S. Amberger - updated : 9/10/2007<br>Carol A. Bocchini - updated : 9/5/2007
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carol : 03/16/2021<br>carol : 03/15/2021<br>carol : 04/28/2017<br>carol : 01/13/2010<br>wwang : 11/4/2009<br>terry : 10/23/2009<br>wwang : 10/19/2009<br>ckniffin : 10/19/2009<br>carol : 4/3/2009<br>joanna : 9/10/2007<br>carol : 9/5/2007<br>carol : 9/4/2007<br>carol : 9/4/2007
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