3386 lines
246 KiB
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3386 lines
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Entry
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- *608614 - CYTOCHROME P450, FAMILY 4, SUBFAMILY V, POLYPEPTIDE 2; CYP4V2
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- OMIM
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<p>
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<span class="h4">*608614</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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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 role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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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="#biochemicalFeatures">Biochemical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/608614">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div 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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<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=ENSG00000145476;t=ENST00000378802" 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=285440" 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=608614" 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=ENSG00000145476;t=ENST00000378802" 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_207352,XM_005262935,XM_047450077" 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_207352" 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=608614" 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=16777&isoform_id=16777_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/CYP4V2" 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/34527774,34532967,37182360,38173818,39841340,71296918,119625029,187960086,217416831,296434466,530377565,2217350193,2462596541,2462596543" 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/Q6ZWL3" 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=285440" 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=ENSG00000145476;t=ENST00000378802" 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=CYP4V2" 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=CYP4V2" 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+285440" 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/CYP4V2" 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:285440" 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/285440" 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=chr4&hgg_gene=ENST00000378802.5&hgg_start=186191567&hgg_end=186213463&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23198" 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:23198" 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://medlineplus.gov/genetics/gene/cyp4v2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608614[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=608614[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/CYP4V2/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000145476" 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=CYP4V2" 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=CYP4V2" 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=CYP4V2" 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=CYP4V2&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/PA134912942" 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:23198" 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/FBgn0005670.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:2142763" 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/CYP4V2#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:2142763" 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/285440/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=285440" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00007140;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00007140 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00008499;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00008499 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00009226;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00009226 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00010354;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00010354 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00013381;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00013381 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00013585;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00013585 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00016147;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00016147 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00021200;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00021200 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00021412;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00021412 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-061103-601" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=CYP4V2&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 312927001<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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608614
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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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CYTOCHROME P450, FAMILY 4, SUBFAMILY V, POLYPEPTIDE 2; CYP4V2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CYP4V2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CYP4V2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/4/724?start=-3&limit=10&highlight=724">4q35.1-q35.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:186191567-186213463&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'})">4:186,191,567-186,213,463</a> </span>
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</em>
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</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="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
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<span class="h4 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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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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|
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<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/4/724?start=-3&limit=10&highlight=724">
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4q35.1-q35.2
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</a>
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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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Bietti crystalline corneoretinal dystrophy
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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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<a href="/entry/210370"> 210370 </a>
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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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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<p>By 3-prime and 5-prime RACE and PCR of a human retina cDNA library, <a href="#4" class="mim-tip-reference" title="Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F. <strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong> Am. J. Hum. Genet. 74: 817-826, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15042513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15042513</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15042513[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/10.1086/383228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15042513">Li et al. (2004)</a> obtained a 2,041-bp CYP4V2 cDNA, which encodes a deduced 525-amino acid protein with homology to members of CYP450 family 4. PCR of human tissue-specific cDNA showed expression of CYP4V2 in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, retina, retinal pigment epithelium, and lymphocytes. Highest expression was found in retina. The expression of CYP4V2 in a wide variety of tissues is consistent with inclusions and their clinical sequelae found in the cornea, retina, and lymphocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15042513" 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 CYP4V2 gene contains 11 exons spanning 19 kb. The coding sequence begins in exon 1 and continues through exon 11 (<a href="#4" class="mim-tip-reference" title="Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F. <strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong> Am. J. Hum. Genet. 74: 817-826, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15042513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15042513</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15042513[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/10.1086/383228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15042513">Li et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15042513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a study of 10 families with Bietti crystalline corneoretinal dystrophy (BCD; <a href="/entry/210370">210370</a>), <a href="#2" class="mim-tip-reference" title="Jiao, X., Munier, F. L., Iwata, F., Hayakawa, M., Kanai, A., Lee, J., Schorderet, D. F., Chen, M.-S., Kaiser-Kupfer, M., Hejtmancik, J. F. <strong>Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.</strong> Am. J. Hum. Genet. 67: 1309-1313, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11001583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11001583</a>] [<a href="https://doi.org/10.1016/S0002-9297(07)62960-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11001583">Jiao et al. (2000)</a> showed linkage of the disorder to 4q35-qter (maximum lod = 5.31 with D4S2299 at theta = 0.0). Using haplotype and linkage analyses, <a href="#4" class="mim-tip-reference" title="Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F. <strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong> Am. J. Hum. Genet. 74: 817-826, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15042513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15042513</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15042513[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/10.1086/383228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15042513">Li et al. (2004)</a> refined the BCD critical region to a region of 4q35.1 flanked centromerically by D4S2924. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11001583+15042513" 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 predicted transmembrane segment of CYP4V2 resides near the N terminus, followed by a globular structural domain typical of the CYP450 family. The globular domain of CYP4V2 comprises 18 helices and beta structural segments. The heme group is located close to the surface of the protein, coordinated by the I helix toward the protein interior and the L helix superficially (<a href="#4" class="mim-tip-reference" title="Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F. <strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong> Am. J. Hum. Genet. 74: 817-826, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15042513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15042513</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15042513[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/10.1086/383228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15042513">Li et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15042513" 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>Bietti crystalline corneoretinal dystrophy (BCD; <a href="/entry/210370">210370</a>) is an autosomal recessive retinal dystrophy characterized by multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. In 23 of 25 unrelated patients with BCD, <a href="#4" class="mim-tip-reference" title="Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F. <strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong> Am. J. Hum. Genet. 74: 817-826, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15042513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15042513</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15042513[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/10.1086/383228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15042513">Li et al. (2004)</a> identified 13 mutations in the CYP4V2 gene (see <a href="#0001">608614.0001</a>-<a href="#0006">608614.0006</a>). As CYP4V2 is homologous to other members of CYP450 family 4, <a href="#4" class="mim-tip-reference" title="Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F. <strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong> Am. J. Hum. Genet. 74: 817-826, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15042513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15042513</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15042513[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/10.1086/383228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15042513">Li et al. (2004)</a> suggested that it might have a role in fatty acid and steroid metabolism, which would be consistent with biochemical studies of patients with BCD (<a href="#3" class="mim-tip-reference" title="Lee, J., Jiao, X., Hejtmancik, J. F., Kaiser-Kupfer, M., Gahl, W. A., Markello, T. C., Guo, J., Chader, G. J. <strong>The metabolism of fatty acids in human Bietti crystalline dystrophy.</strong> Invest. Ophtal. Vis. Sci. 42: 1707-1714, 2001."None>Lee et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15042513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 11 unrelated patients of East Asian or Middle Eastern ancestry with BCD, <a href="#5" class="mim-tip-reference" title="Lin, J., Nishiguchi, K. M., Nakamura, M., Dryja, T. P., Berson, E. L., Miyake, Y. <strong>Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.</strong> J. Med. Genet. 42: e38, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15937078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15937078</a>] [<a href="https://doi.org/10.1136/jmg.2004.029066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15937078">Lin et al. (2005)</a> identified homozygosity or compound heterozygosity for mutations in the CYP4V2 gene (see, e.g., <a href="#0005">608614.0005</a>-<a href="#0008">608614.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15937078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 Chinese sisters with congenital cataract, high myopia, thin corneas, and retinal findings consistent with retinitis pigmentosa, <a href="#6" class="mim-tip-reference" title="Wang, Y., Guo, L., Cai, S.-P, Dai, M., Yang, Q., Yu, W., Yan, N., Zhou, X., Fu, J., Guo, X., Han, P., Wang, J., Liu, X. <strong>Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.</strong> PLoS One 7: e33673, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22693542[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/10.1371/journal.pone.0033673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22693542">Wang et al. (2012)</a> identified compound heterozygosity for 2 mutations in the CYP4V2 gene (<a href="#0005">608614.0005</a>-<a href="#0006">608614.0006</a>) that segregated fully with disease in the family. Both mutations had previously been identified in homozygosity or compound heterozygosity in patients with BCD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22693542" 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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CYP4V2, TRP44ARG
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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> rs119103282 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119103282;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/rs119103282?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=rs119103282" 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=rs119103282" 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=RCV000002271 OR RCV001238785 OR RCV004814800" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002271, RCV001238785, RCV004814800" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002271...</a>
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<p>In a European patient with Bietti crystalline corneoretinal dystrophy (BCD; <a href="/entry/210370">210370</a>), <a href="#4" class="mim-tip-reference" title="Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F. <strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong> Am. J. Hum. Genet. 74: 817-826, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15042513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15042513</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15042513[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/10.1086/383228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15042513">Li et al. (2004)</a> found compound heterozygosity for 2 mutations in the CYP4V2 gene: a 434T-A transversion in exon 1, resulting in a trp44-to-arg (W44R) mutation, and a 636T-C transition in exon 3, resulting in an ile111-to-thr mutation (I111T; <a href="#0002">608614.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15042513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY</strong>
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CYP4V2, ILE111THR
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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> rs119103283 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119103283;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/rs119103283?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=rs119103283" 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=rs119103283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002272 OR RCV001047112 OR RCV004814801" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002272, RCV001047112, RCV004814801" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002272...</a>
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<p>For discussion of the ile111-to-thr (I111T) mutation in the CYP4V2 gene that was found in compound heterozygous state in a patient with Bietti crystalline corneoretinal dystrophy (BCD; <a href="/entry/210370">210370</a>) by <a href="#4" class="mim-tip-reference" title="Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F. <strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong> Am. J. Hum. Genet. 74: 817-826, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15042513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15042513</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15042513[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/10.1086/383228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15042513">Li et al. (2004)</a>, see <a href="#0001">608614.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15042513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0003" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0003 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY</strong>
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</h4>
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CYP4V2, ARG508HIS
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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> rs119103284 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119103284;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/rs119103284?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=rs119103284" 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=rs119103284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002273 OR RCV001238176" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002273, RCV001238176" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002273...</a>
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<span class="mim-text-font">
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<p>In a European patient with Bietti crystalline corneoretinal dystrophy (BCD; <a href="/entry/210370">210370</a>), <a href="#4" class="mim-tip-reference" title="Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F. <strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong> Am. J. Hum. Genet. 74: 817-826, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15042513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15042513</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15042513[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/10.1086/383228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15042513">Li et al. (2004)</a> identified homozygosity for an 1827G-A transition in exon 11 of the CYP4V2 gene, resulting in an arg508-to-his (R508H) mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15042513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY</strong>
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</span>
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</h4>
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CYP4V2, GLY61SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs119103285 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119103285;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=rs119103285" 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=rs119103285" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002274" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002274" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002274</a>
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<span class="mim-text-font">
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<p>In a Chinese family, <a href="#4" class="mim-tip-reference" title="Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F. <strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong> Am. J. Hum. Genet. 74: 817-826, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15042513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15042513</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15042513[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/10.1086/383228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15042513">Li et al. (2004)</a> found that Bietti crystalline corneoretinal dystrophy (BCD; <a href="/entry/210370">210370</a>) was caused by compound heterozygosity for mutations in the CYP4V2 gene: a 485G-A transition in exon 1, resulting in a gly61-to-ser (G61S) mutation, and an A-to-G transition at position -2 of the acceptor splice site of intron 8 (IVS8-2A-G; <a href="#0005">608614.0005</a>), resulting in deletion of exon 9. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15042513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY</strong>
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CYP4V2, IVS8AS, A-G, -2
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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> rs199476183 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199476183;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/rs199476183?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=rs199476183" 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=rs199476183" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002275 OR RCV001851576 OR RCV003887849" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002275, RCV001851576, RCV003887849" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002275...</a>
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<p>For discussion of the splice site mutation in the CYP4V2 gene (c.1091-2A-G, NM_207352.3) that was found in compound heterozygous state in patients with Bietti crystalline corneoretinal dystrophy (BCD; <a href="/entry/210370">210370</a>) by <a href="#5" class="mim-tip-reference" title="Lin, J., Nishiguchi, K. M., Nakamura, M., Dryja, T. P., Berson, E. L., Miyake, Y. <strong>Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.</strong> J. Med. Genet. 42: e38, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15937078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15937078</a>] [<a href="https://doi.org/10.1136/jmg.2004.029066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15937078">Lin et al. (2005)</a>, <a href="#4" class="mim-tip-reference" title="Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F. <strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong> Am. J. Hum. Genet. 74: 817-826, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15042513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15042513</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15042513[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/10.1086/383228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15042513">Li et al. (2004)</a>, <a href="#6" class="mim-tip-reference" title="Wang, Y., Guo, L., Cai, S.-P, Dai, M., Yang, Q., Yu, W., Yan, N., Zhou, X., Fu, J., Guo, X., Han, P., Wang, J., Liu, X. <strong>Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.</strong> PLoS One 7: e33673, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22693542[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/10.1371/journal.pone.0033673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22693542">Wang et al. (2012)</a>, and <a href="#1" class="mim-tip-reference" title="Fu, Q., Wang, F., Wang, H., Xu, F., Zaneveld, J. E., Ren, H., Keser, V., Lopez, I., Tuan, H.-F., Salvo, J. S., Wang, X., Zhao, L., Wang, K., Li, Y., Koenekoop, R. K., Chen, R., Sui, R. <strong>Next-generation sequencing-based molecular diagnosis of a Chinese cohort with autosomal recessive retinitis pigmentosa.</strong> Invest. Ophthal. Vis. Sci. 54: 4158-4166, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23661369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23661369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23661369[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/10.1167/iovs.13-11672" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23661369">Fu et al. (2013)</a>, see <a href="#0004">608614.0004</a> and <a href="#0006">608614.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23661369+22693542+15937078+15042513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 7 Japanese patients with Bietti crystalline corneoretinal dystrophy (BCD; <a href="/entry/210370">210370</a>), <a href="#5" class="mim-tip-reference" title="Lin, J., Nishiguchi, K. M., Nakamura, M., Dryja, T. P., Berson, E. L., Miyake, Y. <strong>Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.</strong> J. Med. Genet. 42: e38, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15937078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15937078</a>] [<a href="https://doi.org/10.1136/jmg.2004.029066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15937078">Lin et al. (2005)</a> identified homozygosity for an insertion/deletion mutation (c.802-8_810del17insGC) at intron 6 of the CYP4V2 gene that resulted in the skipping of exon 7. All 7 patients also shared homozygosity for 6 closely linked intragenic polymorphic markers, consistent with a founder effect; however, the authors noted that the founder was probably a very distant ancestor because the region of the conserved linked markers was small (6.7-17.1 kb). In a Chinese BCD patient, <a href="#5" class="mim-tip-reference" title="Lin, J., Nishiguchi, K. M., Nakamura, M., Dryja, T. P., Berson, E. L., Miyake, Y. <strong>Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.</strong> J. Med. Genet. 42: e38, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15937078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15937078</a>] [<a href="https://doi.org/10.1136/jmg.2004.029066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15937078">Lin et al. (2005)</a> identified compound heterozygosity for this mutation and a c.992A-C transversion in the CYP4V2 gene, resulting in a his-331-to-pro (H331P; <a href="#0007">608614.0007</a>) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15937078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F. <strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong> Am. J. Hum. Genet. 74: 817-826, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15042513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15042513</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15042513[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/10.1086/383228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15042513">Li et al. (2004)</a> had previously reported the indel mutation as a 15-bp deletion, which they found in homozygosity in 6 Japanese and 2 Chinese families with BCD as well as in 1 Japanese and 2 Chinese sporadic BCD patients. In addition, they identified the indel mutation in compound heterozygous state with the IVS8-2A-G mutation (<a href="#0005">608614.0005</a>) in a Chinese patient with sporadic BCD and with the H331P mutation in affected individuals from a Chinese family. Screening for these 3 mutations in 50 controls, including 12 of Chinese, 16 of Japanese, and 22 of European origin, detected only 1 heterozygous instance of the H331P mutation in 1 Chinese control sample. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15042513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 Chinese sisters with congenital cataract, high myopia, thin corneas, and a diagnosis of retinitis pigmentosa, <a href="#6" class="mim-tip-reference" title="Wang, Y., Guo, L., Cai, S.-P, Dai, M., Yang, Q., Yu, W., Yan, N., Zhou, X., Fu, J., Guo, X., Han, P., Wang, J., Liu, X. <strong>Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.</strong> PLoS One 7: e33673, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22693542[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/10.1371/journal.pone.0033673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22693542">Wang et al. (2012)</a> identified compound heterozygosity for the c.802-8_810del17insGC mutation and the IVS8-2A-G mutation in the CYP4V2 gene. The mutations segregated fully with disease in 22 examined members of this 4-generation family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22693542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the proband from a Chinese family diagnosed with autosomal recessive RP, <a href="#1" class="mim-tip-reference" title="Fu, Q., Wang, F., Wang, H., Xu, F., Zaneveld, J. E., Ren, H., Keser, V., Lopez, I., Tuan, H.-F., Salvo, J. S., Wang, X., Zhao, L., Wang, K., Li, Y., Koenekoop, R. K., Chen, R., Sui, R. <strong>Next-generation sequencing-based molecular diagnosis of a Chinese cohort with autosomal recessive retinitis pigmentosa.</strong> Invest. Ophthal. Vis. Sci. 54: 4158-4166, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23661369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23661369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23661369[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/10.1167/iovs.13-11672" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23661369">Fu et al. (2013)</a> identified compound heterozygosity for the CYP4V2 c.802-8_810del17insGC (c.802-8_810del17insGC, NM_207352.3) and IVS8-2A-G mutations. Both mutations were also present in an affected sib, but mutation status was unknown for their unaffected deceased parents. Clinical reevaluation was not possible in this family, but reexamination of affected individuals in another Chinese RP family with mutations in CYP4V2 resulted in a rediagnosis of their phenotype as BCD (see <a href="#0009">608614.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23661369" 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> rs199476197 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199476197;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/rs199476197?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=rs199476197" 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=rs199476197" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the c.992A-C transversion in exon 8 of the CYP4V2 gene, resulting in a his331-to-pro (H331P) substitution, that was found in compound heterozygous state in Chinese patients with Bietti crystalline corneoretinal dystrophy (BCD; <a href="/entry/210370">210370</a>) by <a href="#4" class="mim-tip-reference" title="Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F. <strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong> Am. J. Hum. Genet. 74: 817-826, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15042513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15042513</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15042513[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/10.1086/383228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15042513">Li et al. (2004)</a> and <a href="#5" class="mim-tip-reference" title="Lin, J., Nishiguchi, K. M., Nakamura, M., Dryja, T. P., Berson, E. L., Miyake, Y. <strong>Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.</strong> J. Med. Genet. 42: e38, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15937078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15937078</a>] [<a href="https://doi.org/10.1136/jmg.2004.029066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15937078">Lin et al. (2005)</a>, see <a href="#0006">608614.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15937078+15042513" 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=RCV000032533 OR RCV001046642" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032533, RCV001046642" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032533...</a>
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<p>In a 21-year-old woman and an unrelated 45-year-old man with Bietti crystalline corneoretinal dystrophy (BCD; <a href="/entry/210370">210370</a>), both of Middle Eastern ancestry, <a href="#5" class="mim-tip-reference" title="Lin, J., Nishiguchi, K. M., Nakamura, M., Dryja, T. P., Berson, E. L., Miyake, Y. <strong>Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.</strong> J. Med. Genet. 42: e38, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15937078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15937078</a>] [<a href="https://doi.org/10.1136/jmg.2004.029066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15937078">Lin et al. (2005)</a> identified homozygosity for a c.1348C-T transition in the CYP4V2 gene, resulting in a gln450-to-ter (Q450X) substitution. The mutation was not found in 90 North American controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15937078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY</strong>
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CYP4V2, ASN466ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs797045181 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797045181;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=rs797045181" 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=rs797045181" 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=RCV000191926" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000191926" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000191926</a>
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<p>In the proband from a Chinese family initially diagnosed with autosomal recessive RP but later reclassified as having Bietti crystalline corneoretinal dystrophy (BCD; <a href="/entry/210370">210370</a>), <a href="#1" class="mim-tip-reference" title="Fu, Q., Wang, F., Wang, H., Xu, F., Zaneveld, J. E., Ren, H., Keser, V., Lopez, I., Tuan, H.-F., Salvo, J. S., Wang, X., Zhao, L., Wang, K., Li, Y., Koenekoop, R. K., Chen, R., Sui, R. <strong>Next-generation sequencing-based molecular diagnosis of a Chinese cohort with autosomal recessive retinitis pigmentosa.</strong> Invest. Ophthal. Vis. Sci. 54: 4158-4166, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23661369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23661369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23661369[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/10.1167/iovs.13-11672" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23661369">Fu et al. (2013)</a> identified compound heterozygosity for the c.802-8_810del17insGC mutation (<a href="#0006">608614.0006</a>) and a c.1396A-G transition (c.1396A-G, NM_207352.3) in the CYP4V2 gene, resulting in an asn466-to-asp (N466D) substitution at a conserved residue. The mutations segregated with disease in the family. Reexamination of affected family members revealed the characteristic yellowish shiny crystals of BCD in the proband's younger sister, although none were observed in the proband. <a href="#1" class="mim-tip-reference" title="Fu, Q., Wang, F., Wang, H., Xu, F., Zaneveld, J. E., Ren, H., Keser, V., Lopez, I., Tuan, H.-F., Salvo, J. S., Wang, X., Zhao, L., Wang, K., Li, Y., Koenekoop, R. K., Chen, R., Sui, R. <strong>Next-generation sequencing-based molecular diagnosis of a Chinese cohort with autosomal recessive retinitis pigmentosa.</strong> Invest. Ophthal. Vis. Sci. 54: 4158-4166, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23661369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23661369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23661369[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/10.1167/iovs.13-11672" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23661369">Fu et al. (2013)</a> stated that in their experience, the crystals seen in BCD may vanish as patients age and the disease progresses; they thus clinically rediagnosed this family with BCD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23661369" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Fu, Q., Wang, F., Wang, H., Xu, F., Zaneveld, J. E., Ren, H., Keser, V., Lopez, I., Tuan, H.-F., Salvo, J. S., Wang, X., Zhao, L., Wang, K., Li, Y., Koenekoop, R. K., Chen, R., Sui, R.
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<strong>Next-generation sequencing-based molecular diagnosis of a Chinese cohort with autosomal recessive retinitis pigmentosa.</strong>
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Invest. Ophthal. Vis. Sci. 54: 4158-4166, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23661369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23661369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23661369[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=23661369" 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.13-11672" target="_blank">Full Text</a>]
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<a id="Jiao2000" class="mim-anchor"></a>
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Jiao, X., Munier, F. L., Iwata, F., Hayakawa, M., Kanai, A., Lee, J., Schorderet, D. F., Chen, M.-S., Kaiser-Kupfer, M., Hejtmancik, J. F.
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<strong>Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.</strong>
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Am. J. Hum. Genet. 67: 1309-1313, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11001583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11001583</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11001583" 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/S0002-9297(07)62960-7" target="_blank">Full Text</a>]
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Lee, J., Jiao, X., Hejtmancik, J. F., Kaiser-Kupfer, M., Gahl, W. A., Markello, T. C., Guo, J., Chader, G. J.
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<strong>The metabolism of fatty acids in human Bietti crystalline dystrophy.</strong>
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Invest. Ophtal. Vis. Sci. 42: 1707-1714, 2001.
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Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F.
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<strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong>
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Am. J. Hum. Genet. 74: 817-826, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15042513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15042513</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15042513[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=15042513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Lin, J., Nishiguchi, K. M., Nakamura, M., Dryja, T. P., Berson, E. L., Miyake, Y.
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<strong>Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.</strong>
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J. Med. Genet. 42: e38, 2005. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15937078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15937078</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15937078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2004.029066" target="_blank">Full Text</a>]
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Wang, Y., Guo, L., Cai, S.-P, Dai, M., Yang, Q., Yu, W., Yan, N., Zhou, X., Fu, J., Guo, X., Han, P., Wang, J., Liu, X.
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<strong>Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.</strong>
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PLoS One 7: e33673, 2012. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22693542[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=22693542" 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/10.1371/journal.pone.0033673" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 9/25/2015
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Victor A. McKusick : 4/27/2004
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carol : 9/25/2015<br>mcolton : 6/11/2015<br>tkritzer : 4/30/2004<br>tkritzer : 4/28/2004
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<strong>*</strong> 608614
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CYTOCHROME P450, FAMILY 4, SUBFAMILY V, POLYPEPTIDE 2; CYP4V2
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<strong><em>HGNC Approved Gene Symbol: CYP4V2</em></strong>
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<strong>SNOMEDCT:</strong> 312927001;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 4q35.1-q35.2
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 4:186,191,567-186,213,463 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
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<br />
|
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
4q35.1-q35.2
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Bietti crystalline corneoretinal dystrophy
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
210370
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
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|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
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|
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|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By 3-prime and 5-prime RACE and PCR of a human retina cDNA library, Li et al. (2004) obtained a 2,041-bp CYP4V2 cDNA, which encodes a deduced 525-amino acid protein with homology to members of CYP450 family 4. PCR of human tissue-specific cDNA showed expression of CYP4V2 in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, retina, retinal pigment epithelium, and lymphocytes. Highest expression was found in retina. The expression of CYP4V2 in a wide variety of tissues is consistent with inclusions and their clinical sequelae found in the cornea, retina, and lymphocytes. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The CYP4V2 gene contains 11 exons spanning 19 kb. The coding sequence begins in exon 1 and continues through exon 11 (Li et al., 2004). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In a study of 10 families with Bietti crystalline corneoretinal dystrophy (BCD; 210370), Jiao et al. (2000) showed linkage of the disorder to 4q35-qter (maximum lod = 5.31 with D4S2299 at theta = 0.0). Using haplotype and linkage analyses, Li et al. (2004) refined the BCD critical region to a region of 4q35.1 flanked centromerically by D4S2924. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The predicted transmembrane segment of CYP4V2 resides near the N terminus, followed by a globular structural domain typical of the CYP450 family. The globular domain of CYP4V2 comprises 18 helices and beta structural segments. The heme group is located close to the surface of the protein, coordinated by the I helix toward the protein interior and the L helix superficially (Li et al., 2004). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Bietti crystalline corneoretinal dystrophy (BCD; 210370) is an autosomal recessive retinal dystrophy characterized by multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. In 23 of 25 unrelated patients with BCD, Li et al. (2004) identified 13 mutations in the CYP4V2 gene (see 608614.0001-608614.0006). As CYP4V2 is homologous to other members of CYP450 family 4, Li et al. (2004) suggested that it might have a role in fatty acid and steroid metabolism, which would be consistent with biochemical studies of patients with BCD (Lee et al., 2001). </p><p>In 11 unrelated patients of East Asian or Middle Eastern ancestry with BCD, Lin et al. (2005) identified homozygosity or compound heterozygosity for mutations in the CYP4V2 gene (see, e.g., 608614.0005-608614.0008). </p><p>In 4 Chinese sisters with congenital cataract, high myopia, thin corneas, and retinal findings consistent with retinitis pigmentosa, Wang et al. (2012) identified compound heterozygosity for 2 mutations in the CYP4V2 gene (608614.0005-608614.0006) that segregated fully with disease in the family. Both mutations had previously been identified in homozygosity or compound heterozygosity in patients with BCD. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>9 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYP4V2, TRP44ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs119103282,
|
|
|
|
|
|
gnomAD: rs119103282,
|
|
|
|
|
|
ClinVar: RCV000002271, RCV001238785, RCV004814800
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a European patient with Bietti crystalline corneoretinal dystrophy (BCD; 210370), Li et al. (2004) found compound heterozygosity for 2 mutations in the CYP4V2 gene: a 434T-A transversion in exon 1, resulting in a trp44-to-arg (W44R) mutation, and a 636T-C transition in exon 3, resulting in an ile111-to-thr mutation (I111T; 608614.0002). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYP4V2, ILE111THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs119103283,
|
|
|
|
|
|
gnomAD: rs119103283,
|
|
|
|
|
|
ClinVar: RCV000002272, RCV001047112, RCV004814801
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the ile111-to-thr (I111T) mutation in the CYP4V2 gene that was found in compound heterozygous state in a patient with Bietti crystalline corneoretinal dystrophy (BCD; 210370) by Li et al. (2004), see 608614.0001. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYP4V2, ARG508HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs119103284,
|
|
|
|
|
|
gnomAD: rs119103284,
|
|
|
|
|
|
ClinVar: RCV000002273, RCV001238176
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a European patient with Bietti crystalline corneoretinal dystrophy (BCD; 210370), Li et al. (2004) identified homozygosity for an 1827G-A transition in exon 11 of the CYP4V2 gene, resulting in an arg508-to-his (R508H) mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYP4V2, GLY61SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs119103285,
|
|
|
|
|
|
|
|
ClinVar: RCV000002274
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Chinese family, Li et al. (2004) found that Bietti crystalline corneoretinal dystrophy (BCD; 210370) was caused by compound heterozygosity for mutations in the CYP4V2 gene: a 485G-A transition in exon 1, resulting in a gly61-to-ser (G61S) mutation, and an A-to-G transition at position -2 of the acceptor splice site of intron 8 (IVS8-2A-G; 608614.0005), resulting in deletion of exon 9. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYP4V2, IVS8AS, A-G, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs199476183,
|
|
|
|
|
|
gnomAD: rs199476183,
|
|
|
|
|
|
ClinVar: RCV000002275, RCV001851576, RCV003887849
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the CYP4V2 gene (c.1091-2A-G, NM_207352.3) that was found in compound heterozygous state in patients with Bietti crystalline corneoretinal dystrophy (BCD; 210370) by Lin et al. (2005), Li et al. (2004), Wang et al. (2012), and Fu et al. (2013), see 608614.0004 and 608614.0006. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYP4V2, IVS6AS, 17-BP DEL/2-BP INS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs207482233,
|
|
|
|
|
|
gnomAD: rs207482233,
|
|
|
|
|
|
ClinVar: RCV000032548, RCV000726829, RCV001075704
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 7 Japanese patients with Bietti crystalline corneoretinal dystrophy (BCD; 210370), Lin et al. (2005) identified homozygosity for an insertion/deletion mutation (c.802-8_810del17insGC) at intron 6 of the CYP4V2 gene that resulted in the skipping of exon 7. All 7 patients also shared homozygosity for 6 closely linked intragenic polymorphic markers, consistent with a founder effect; however, the authors noted that the founder was probably a very distant ancestor because the region of the conserved linked markers was small (6.7-17.1 kb). In a Chinese BCD patient, Lin et al. (2005) identified compound heterozygosity for this mutation and a c.992A-C transversion in the CYP4V2 gene, resulting in a his-331-to-pro (H331P; 608614.0007) substitution. </p><p>Li et al. (2004) had previously reported the indel mutation as a 15-bp deletion, which they found in homozygosity in 6 Japanese and 2 Chinese families with BCD as well as in 1 Japanese and 2 Chinese sporadic BCD patients. In addition, they identified the indel mutation in compound heterozygous state with the IVS8-2A-G mutation (608614.0005) in a Chinese patient with sporadic BCD and with the H331P mutation in affected individuals from a Chinese family. Screening for these 3 mutations in 50 controls, including 12 of Chinese, 16 of Japanese, and 22 of European origin, detected only 1 heterozygous instance of the H331P mutation in 1 Chinese control sample. </p><p>In 4 Chinese sisters with congenital cataract, high myopia, thin corneas, and a diagnosis of retinitis pigmentosa, Wang et al. (2012) identified compound heterozygosity for the c.802-8_810del17insGC mutation and the IVS8-2A-G mutation in the CYP4V2 gene. The mutations segregated fully with disease in 22 examined members of this 4-generation family. </p><p>In the proband from a Chinese family diagnosed with autosomal recessive RP, Fu et al. (2013) identified compound heterozygosity for the CYP4V2 c.802-8_810del17insGC (c.802-8_810del17insGC, NM_207352.3) and IVS8-2A-G mutations. Both mutations were also present in an affected sib, but mutation status was unknown for their unaffected deceased parents. Clinical reevaluation was not possible in this family, but reexamination of affected individuals in another Chinese RP family with mutations in CYP4V2 resulted in a rediagnosis of their phenotype as BCD (see 608614.0009). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYP4V2, HIS331PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs199476197,
|
|
|
|
|
|
gnomAD: rs199476197,
|
|
|
|
|
|
ClinVar: RCV000032552, RCV000490060, RCV001074450
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.992A-C transversion in exon 8 of the CYP4V2 gene, resulting in a his331-to-pro (H331P) substitution, that was found in compound heterozygous state in Chinese patients with Bietti crystalline corneoretinal dystrophy (BCD; 210370) by Li et al. (2004) and Lin et al. (2005), see 608614.0006. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYP4V2, GLN450TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs199476204,
|
|
|
|
|
|
|
|
ClinVar: RCV000032533, RCV001046642
|
|
|
|
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<p>In a 21-year-old woman and an unrelated 45-year-old man with Bietti crystalline corneoretinal dystrophy (BCD; 210370), both of Middle Eastern ancestry, Lin et al. (2005) identified homozygosity for a c.1348C-T transition in the CYP4V2 gene, resulting in a gln450-to-ter (Q450X) substitution. The mutation was not found in 90 North American controls. </p>
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<span class="mim-font">
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<strong>.0009 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY</strong>
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CYP4V2, ASN466ASP
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SNP: rs797045181,
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ClinVar: RCV000191926
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<p>In the proband from a Chinese family initially diagnosed with autosomal recessive RP but later reclassified as having Bietti crystalline corneoretinal dystrophy (BCD; 210370), Fu et al. (2013) identified compound heterozygosity for the c.802-8_810del17insGC mutation (608614.0006) and a c.1396A-G transition (c.1396A-G, NM_207352.3) in the CYP4V2 gene, resulting in an asn466-to-asp (N466D) substitution at a conserved residue. The mutations segregated with disease in the family. Reexamination of affected family members revealed the characteristic yellowish shiny crystals of BCD in the proband's younger sister, although none were observed in the proband. Fu et al. (2013) stated that in their experience, the crystals seen in BCD may vanish as patients age and the disease progresses; they thus clinically rediagnosed this family with BCD. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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Fu, Q., Wang, F., Wang, H., Xu, F., Zaneveld, J. E., Ren, H., Keser, V., Lopez, I., Tuan, H.-F., Salvo, J. S., Wang, X., Zhao, L., Wang, K., Li, Y., Koenekoop, R. K., Chen, R., Sui, R.
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<strong>Next-generation sequencing-based molecular diagnosis of a Chinese cohort with autosomal recessive retinitis pigmentosa.</strong>
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Invest. Ophthal. Vis. Sci. 54: 4158-4166, 2013.
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[PubMed: 23661369]
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[Full Text: https://doi.org/10.1167/iovs.13-11672]
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Jiao, X., Munier, F. L., Iwata, F., Hayakawa, M., Kanai, A., Lee, J., Schorderet, D. F., Chen, M.-S., Kaiser-Kupfer, M., Hejtmancik, J. F.
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<strong>Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.</strong>
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Am. J. Hum. Genet. 67: 1309-1313, 2000.
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[PubMed: 11001583]
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[Full Text: https://doi.org/10.1016/S0002-9297(07)62960-7]
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Lee, J., Jiao, X., Hejtmancik, J. F., Kaiser-Kupfer, M., Gahl, W. A., Markello, T. C., Guo, J., Chader, G. J.
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<strong>The metabolism of fatty acids in human Bietti crystalline dystrophy.</strong>
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Invest. Ophtal. Vis. Sci. 42: 1707-1714, 2001.
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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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Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F.
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<strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong>
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Am. J. Hum. Genet. 74: 817-826, 2004.
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[PubMed: 15042513]
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[Full Text: https://doi.org/10.1086/383228]
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Lin, J., Nishiguchi, K. M., Nakamura, M., Dryja, T. P., Berson, E. L., Miyake, Y.
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<strong>Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.</strong>
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J. Med. Genet. 42: e38, 2005. Note: Electronic Article.
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[PubMed: 15937078]
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[Full Text: https://doi.org/10.1136/jmg.2004.029066]
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<p class="mim-text-font">
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Wang, Y., Guo, L., Cai, S.-P, Dai, M., Yang, Q., Yu, W., Yan, N., Zhou, X., Fu, J., Guo, X., Han, P., Wang, J., Liu, X.
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<strong>Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.</strong>
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PLoS One 7: e33673, 2012. Note: Electronic Article.
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[PubMed: 22693542]
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[Full Text: https://doi.org/10.1371/journal.pone.0033673]
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 9/25/2015
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Victor A. McKusick : 4/27/2004
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carol : 09/26/2015<br>carol : 9/25/2015<br>mcolton : 6/11/2015<br>tkritzer : 4/30/2004<br>tkritzer : 4/28/2004
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