3485 lines
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3485 lines
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Entry
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- *613580 - WD REPEAT-CONTAINING PLANAR CELL POLARITY EFFECTOR; WDPCP
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*613580</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="#description">Description</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="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/613580">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>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000143951;t=ENST00000272321" 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=51057" 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=613580" 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=ENSG00000143951;t=ENST00000272321" 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_001042692,NM_001354044,NM_001354045,NM_015910,NR_122106,NR_148704,NR_148705,XM_005264348,XM_011532881,XM_011532884,XM_011532887,XM_011532890,XM_017004253,XM_047444626,XM_047444627,XM_047444628,XM_047444629,XM_047444630,XM_047444631,XM_047444632,XM_047444633,XM_047444634,XR_007076379,XR_007076380" 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_015910" 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=613580" 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=14228&isoform_id=14228_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/WDPCP" 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/4406547,31874826,62702163,62702170,62739493,62740199,62988646,62988971,111548652,111548654,119620370,119620371,172047300,193785665,530367655,767914622,767914629,767914635,767914641,1034614417,1227523082,1227523143,2217328535,2217328537,2217328540,2217328542,2217328544,2217328546,2217328550,2217328553,2217328558,2462573918,2462573920,2462573922,2462573924,2462573926,2462573928,2462573931,2462573933,2462573935,2462573937,2462573939,2462573942,2462573944,2462573946" 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/O95876" 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=51057" 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=ENSG00000143951;t=ENST00000272321" 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=WDPCP" 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=WDPCP" 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+51057" 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/WDPCP" 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:51057" 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/51057" 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=chr2&hgg_gene=ENST00000816213.1&hgg_start=63119559&hgg_end=63840826&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:28027" 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:28027" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613580[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=613580[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/WDPCP/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/ENSG00000143951" 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=WDPCP" 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=WDPCP" 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=WDPCP" 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=WDPCP&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/PA164717186" 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:28027" 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/FBgn0086698.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:2144467" 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/WDPCP#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:2144467" 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/51057/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=51057" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-100405-4" 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">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
|
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</span>
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=WDPCP&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
613580
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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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WD REPEAT-CONTAINING PLANAR CELL POLARITY EFFECTOR; WDPCP
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</span>
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</h3>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CHROMOSOME 2 OPEN READING FRAME 86; C2ORF86<br />
|
|
FRITZ, DROSOPHILA, HOMOLOG OF<br />
|
|
BBS15 GENE; BBS15
|
|
</span>
|
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</h4>
|
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</div>
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=WDPCP" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">WDPCP</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/2/290?start=-3&limit=10&highlight=290">2p15</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:63119559-63840826&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'})">2:63,119,559-63,840,826</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=615992,217085" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/290?start=-3&limit=10&highlight=290">
|
|
2p15
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Bardet-Biedl syndrome 15
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/615992"> 615992 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
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|
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</tr>
|
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|
|
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|
|
|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Congenital heart defects, hamartomas of tongue, and polysyndactyly
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/217085"> 217085 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
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<p>The WDPCP gene encodes an ortholog of Drosophila 'fritz,' a cytoplasmic WD40 repeat protein that controls planar cell polarity (<a href="#4" class="mim-tip-reference" title="Kim, S. K., Shindo, A., Park, T. J., Oh, E. C., Ghosh, S., Gray, R. S., Lewis, R. A., Johnson, C. A., Attie-Bittach, T., Katsanis, N., Wallingford, J. B. <strong>Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.</strong> Science 329: 1337-1340, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20671153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20671153</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20671153[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/10.1126/science.1191184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20671153">Kim et al., 2010</a>). WDPCP localizes to the base of cilia and the actin cytoskeleton and is required for ciliogenesis and directional cell migration (<a href="#2" class="mim-tip-reference" title="Cui, C., Chatterjee, B., Lozito, T. P., Zhang, Z., Francis, R. J., Yagi, H., Swanhart, L. M., Sanker, S., Francis, D., Yu, Q., San Agustin, J. T., Puligilla, C., and 10 others. <strong>Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton.</strong> PLoS Biol. 11: e1001720, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24302887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24302887</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24302887[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.pbio.1001720" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24302887">Cui et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24302887+20671153" 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 Drosophila, <a href="#1" class="mim-tip-reference" title="Collier, S., Lee, H., Burgess, R., Adler, P. <strong>The WD40 repeat protein Fritz links cytoskeletal planar polarity to Frizzled subcellular localization in the Drosophila epidermis.</strong> Genetics 169: 2035-2045, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15654087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15654087</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15654087[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/10.1534/genetics.104.033381" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15654087">Collier et al. (2005)</a> characterized 'fritz' (frtz), which encodes an evolutionarily conserved coiled-coil WD40 protein that functions cell-autonomously downstream of the core planar cell polarity (PCP) proteins (e.g., 'frizzled' <a href="/entry/603408">603408</a> and 'dishevelled' <a href="/entry/601365">601365</a>) to regulate both the location and number of wing cell prehair initiation sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15654087" 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="#1" class="mim-tip-reference" title="Collier, S., Lee, H., Burgess, R., Adler, P. <strong>The WD40 repeat protein Fritz links cytoskeletal planar polarity to Frizzled subcellular localization in the Drosophila epidermis.</strong> Genetics 169: 2035-2045, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15654087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15654087</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15654087[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/10.1534/genetics.104.033381" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15654087">Collier et al. (2005)</a> found that the human Fritz gene encodes a protein of 713 amino acids with a coiled-coil domain, 2 WD40 repeats, and a proline-enriched domain. The proline-rich region of Fritz is the most divergent among species. In the fly it contains 14.5% proline and was predicted to fold as a random coil. In the mammalian Fritz protein, the equivalent region is shorter and not significantly proline-rich, and is remarkably diverged between mouse and human, showing just 45% identity compared with 82% for the rest of the protein. The fly, mouse, and human Fritz proteins share a highly conserved hydrophobic 10-amino acid peptide at the extreme C terminus of the protein. The 2 WD40 repeats of mammalian Fritz fold together to form a beta-propeller structure that provides surfaces for protein-protein interaction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15654087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using immunohistochemical analysis, <a href="#2" class="mim-tip-reference" title="Cui, C., Chatterjee, B., Lozito, T. P., Zhang, Z., Francis, R. J., Yagi, H., Swanhart, L. M., Sanker, S., Francis, D., Yu, Q., San Agustin, J. T., Puligilla, C., and 10 others. <strong>Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton.</strong> PLoS Biol. 11: e1001720, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24302887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24302887</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24302887[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.pbio.1001720" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24302887">Cui et al. (2013)</a> found that mouse Wdpcp was a ciliary protein that colocalized with Sept2 (<a href="/entry/601506">601506</a>) in a ring-like structure at the base of cilia in IMCD3 mouse inner medullary collecting duct cells and in transfected NIH3T3 fibroblasts. Wdpcp also colocalized with Sept2 in actin filaments in mouse embryonic fibroblasts (MEFs). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24302887" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 10/7/2010."None>Hartz (2010)</a> mapped the WDPCP gene to chromosome 2p15 based on an alignment of the WDPCP sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AF131737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AF131737</a>) with the genomic sequence (GRCh37).</p><p><a href="#2" class="mim-tip-reference" title="Cui, C., Chatterjee, B., Lozito, T. P., Zhang, Z., Francis, R. J., Yagi, H., Swanhart, L. M., Sanker, S., Francis, D., Yu, Q., San Agustin, J. T., Puligilla, C., and 10 others. <strong>Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton.</strong> PLoS Biol. 11: e1001720, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24302887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24302887</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24302887[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.pbio.1001720" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24302887">Cui et al. (2013)</a> stated that the mouse Wdpcp gene maps to chromosome 11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24302887" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Kim, S. K., Shindo, A., Park, T. J., Oh, E. C., Ghosh, S., Gray, R. S., Lewis, R. A., Johnson, C. A., Attie-Bittach, T., Katsanis, N., Wallingford, J. B. <strong>Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.</strong> Science 329: 1337-1340, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20671153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20671153</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20671153[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/10.1126/science.1191184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20671153">Kim et al. (2010)</a> identified control of septin (see SEPT7, <a href="/entry/603151">603151</a>) localization by the PCP protein Fritz as a crucial control point for both collective cell movement and ciliogenesis in Xenopus embryos. The authors demonstrated that Fritz and septins control convergent extension and blastopore closure. Fritz morphants displayed defects in craniofacial morphogenesis and hedgehog (see <a href="/entry/600725">600725</a>) signaling similar to those associated with defective ciliogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20671153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using tandem affinity purification and mass spectrometry in mouse kidney IMCD3 cells, followed by pull-down and coimmunoprecipitation analyses, <a href="#8" class="mim-tip-reference" title="Toriyama, M., Lee, C., Taylor, S. P., Duran, I., Cohn, D. H., Bruel, A.-L., Tabler, J. M., Drew, K., Kelly, M. R., Kim, S., Park, T. J., Braun, D. A., and 21 others. <strong>The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.</strong> Nature Genet. 48: 648-656, 2016. Note: Erratum: Nature Genet. 48: 970 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27158779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27158779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27158779[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/10.1038/ng.3558" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27158779">Toriyama et al. (2016)</a> identified and characterized a regulatory module that they termed CPLANE (ciliogenesis and planar polarity effector). The core CPLANE complex consisted of Intu (<a href="/entry/610621">610621</a>), Fuz (<a href="/entry/610622">610622</a>), and Wdpcp, and these proteins also interacted strongly with Cplane1 (<a href="/entry/614571">614571</a>) and Rsg1 (CPLANE2; <a href="/entry/620487">620487</a>). The authors noted that similar interactions had been observed in high-throughput screens of human proteins and are conserved in Drosophila. Intu, Fuz, Wdpcp, Rsg1, and Cplane1 localized around basal bodies in Xenopus multiciliated cells (MCCs). Knockdown experiments showed a complicated hierarchy of functional interactions among the proteins, with Cplane1, which was required for basal body localization of all the CPLANE proteins but Fuz, at the top of the hierarchy. The proteomic data showed that the CPLANE proteins interacted specifically with core and peripheral intraflagellar transport A (IFT-A) complex subunits, but not with IFT-B subunits. In Xenopus MCCs, Cplane1 was required for recruitment of peripheral IFT-A subunits to basal bodies for assembly onto the IFT-A core. Following knockdown of Cplane1 or Wdpcp, IFT-A core particles lacking peripheral proteins were injected into axonemes and underwent normal bidirectional trafficking, whereas IFT-B particles entered axonemes but failed to move in retrograde direction and accumulated. <a href="#8" class="mim-tip-reference" title="Toriyama, M., Lee, C., Taylor, S. P., Duran, I., Cohn, D. H., Bruel, A.-L., Tabler, J. M., Drew, K., Kelly, M. R., Kim, S., Park, T. J., Braun, D. A., and 21 others. <strong>The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.</strong> Nature Genet. 48: 648-656, 2016. Note: Erratum: Nature Genet. 48: 970 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27158779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27158779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27158779[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/10.1038/ng.3558" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27158779">Toriyama et al. (2016)</a> concluded that CPLANE proteins direct basal body recruitment of IFT machinery and are essential for ciliogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27158779" 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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Because of Fritz's role in convergent extension and ciliogenesis in Xenopus, <a href="#4" class="mim-tip-reference" title="Kim, S. K., Shindo, A., Park, T. J., Oh, E. C., Ghosh, S., Gray, R. S., Lewis, R. A., Johnson, C. A., Attie-Bittach, T., Katsanis, N., Wallingford, J. B. <strong>Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.</strong> Science 329: 1337-1340, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20671153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20671153</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20671153[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/10.1126/science.1191184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20671153">Kim et al. (2010)</a> investigated the contribution of human Fritz to the disorders Meckel-Gruber syndrome (see <a href="/entry/249000">249000</a>) and Bardet-Biedl syndrome (<a href="/entry/209900">209900</a>). <a href="#4" class="mim-tip-reference" title="Kim, S. K., Shindo, A., Park, T. J., Oh, E. C., Ghosh, S., Gray, R. S., Lewis, R. A., Johnson, C. A., Attie-Bittach, T., Katsanis, N., Wallingford, J. B. <strong>Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.</strong> Science 329: 1337-1340, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20671153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20671153</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20671153[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/10.1126/science.1191184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20671153">Kim et al. (2010)</a> found significant enrichment of nonsynonymous coding changes in human Fritz (C2ORF86) in Meckel-Gruber syndrome and Bardet-Biedl syndrome (BBS15; <a href="/entry/615992">615992</a>) patients compared with controls (6 alleles in 192 patients versus zero in 384 patients; p less than 0.015). In the Meckel-Gruber syndrome cohort, <a href="#4" class="mim-tip-reference" title="Kim, S. K., Shindo, A., Park, T. J., Oh, E. C., Ghosh, S., Gray, R. S., Lewis, R. A., Johnson, C. A., Attie-Bittach, T., Katsanis, N., Wallingford, J. B. <strong>Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.</strong> Science 329: 1337-1340, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20671153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20671153</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20671153[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/10.1126/science.1191184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20671153">Kim et al. (2010)</a> did not identify alleles sufficient to explain the phenotype, which suggested that these changes might interact in trans with the primary Meckel-Gruber syndrome loci. In the Bardet-Biedl syndrome cohort, <a href="#4" class="mim-tip-reference" title="Kim, S. K., Shindo, A., Park, T. J., Oh, E. C., Ghosh, S., Gray, R. S., Lewis, R. A., Johnson, C. A., Attie-Bittach, T., Katsanis, N., Wallingford, J. B. <strong>Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.</strong> Science 329: 1337-1340, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20671153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20671153</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20671153[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/10.1126/science.1191184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20671153">Kim et al. (2010)</a> found 2 heterozygous missense alleles that were absent from 384 ethnically matched controls, HapMap, and 1,000 genomes. Also, 2 of these changes mapped to the same surface-exposed face of the predicted beta-propeller structure of the Fritz protein. Notably, <a href="#4" class="mim-tip-reference" title="Kim, S. K., Shindo, A., Park, T. J., Oh, E. C., Ghosh, S., Gray, R. S., Lewis, R. A., Johnson, C. A., Attie-Bittach, T., Katsanis, N., Wallingford, J. B. <strong>Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.</strong> Science 329: 1337-1340, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20671153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20671153</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20671153[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/10.1126/science.1191184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20671153">Kim et al. (2010)</a> found that a homozygous Fritz mutation segregated with the disorder in a Bardet-Biedl syndrome family (<a href="#0001">613580.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20671153" 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>From a cohort of 125 families with ciliopathies, <a href="#7" class="mim-tip-reference" title="Shamseldin, H. E., Shaheen, R., Ewida, N., Bubshait, D. K., Alkuraya, H., Almardawi, E., Howaidi, A., Sabr, Y., Abdalla, E. M., Alfaifi, A. Y., Alghamdi, J. M., Alsagheir, A., and 29 others. <strong>The morbid genome of ciliopathies: an update.</strong> Genet. Med. 22: 1051-1060, 2020. Note: Erratum: Genet. Med. 24: 966, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32055034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32055034</a>] [<a href="https://doi.org/10.1038/s41436-020-0761-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32055034">Shamseldin et al. (2020)</a> identified a 14-year-old boy with BBS who was homozygous for a splice site mutation in the WDPCP gene (<a href="#0007">613580.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32055034" 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>From a cohort of 10 Pakistani families with BBS, <a href="#5" class="mim-tip-reference" title="Nawaz, H., Mujahid, Khan, S. A., Bibi, F., Waqas, A., Bari, A., Fardous, Khan, N., Muhammad, N., Khan, A., Paracha, S. A., Alam, Q., Kamal, M. A., Rafeeq, M. M., Muhammad, N., Haq, F. U., Khan, S., Mahmood, A., Khan, S., Umair, M. <strong>Biallelic variants in seven different genes associated with clinically suspected Bardet-Biedl syndrome.</strong> Genes 14: 1113, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37239474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37239474</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37239474[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/10.3390/genes14051113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37239474">Nawaz et al. (2023)</a> identified a brother and sister who were homozygous for a nonsense mutation in the WDPCP gene (C240X; <a href="#0008">613580.0008</a>) that segregated fully with disease in their family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37239474" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Congenital Heart Defects, Hamartomas of the Tongue, and Polysyndactyly</em></strong></p><p>
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<a href="#6" class="mim-tip-reference" title="Saari, J., Lovell, M. A., Yu, H.-C., Bellus, G. A. <strong>Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.</strong> Am. J. Med. Genet. 167A: 421-427, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25427950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25427950</a>] [<a href="https://doi.org/10.1002/ajmg.a.36852" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25427950">Saari et al. (2015)</a> reported a girl with congenital heart defects, hamartomas of the tongue, and polysyndactyly (CHDTHP; <a href="/entry/217085">217085</a>) who was compound heterozygous for a missense (D54N; <a href="#0004">613580.0004</a>) and a frameshift mutation (<a href="#0005">613580.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25427950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 5-year-old boy from Luxembourg with CHDTHP, <a href="#8" class="mim-tip-reference" title="Toriyama, M., Lee, C., Taylor, S. P., Duran, I., Cohn, D. H., Bruel, A.-L., Tabler, J. M., Drew, K., Kelly, M. R., Kim, S., Park, T. J., Braun, D. A., and 21 others. <strong>The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.</strong> Nature Genet. 48: 648-656, 2016. Note: Erratum: Nature Genet. 48: 970 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27158779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27158779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27158779[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/10.1038/ng.3558" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27158779">Toriyama et al. (2016)</a> identified compound heterozygosity for the previously reported D54N mutation and a frameshift mutation (<a href="#0006">613580.0006</a>) in the WDPCP gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27158779" 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>Using an ethylnitrosourea mutagenesis screen,<a href="#2" class="mim-tip-reference" title="Cui, C., Chatterjee, B., Lozito, T. P., Zhang, Z., Francis, R. J., Yagi, H., Swanhart, L. M., Sanker, S., Francis, D., Yu, Q., San Agustin, J. T., Puligilla, C., and 10 others. <strong>Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton.</strong> PLoS Biol. 11: e1001720, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24302887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24302887</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24302887[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.pbio.1001720" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24302887">Cui et al. (2013)</a> identified mice with a mutation in Wdpcp that they called Wdpcp(cys40). The Wdpcp(cys40) mutation was a 224A-G transition that caused a splicing defect in the Wdpcp transcript and premature termination of the Wdpcp protein. No Wdpcp(cys40) protein was detected in mutant mice. Wdpcp(cys40) mice had a phenotype similar to that of Mks1 (<a href="/entry/609883">609883</a>) mutant mice, including anophthalmia, cysts in kidney and other organs, complex congenital heart defects, including truncus arteriosus or pulmonary atresia, and atrioventricular septal defects. Some Wdpcp(cys40) mice had duplex kidney, facial cleft and/or cleft palate, tracheoesophageal fistula, and cloacal septation defects. Wdpcp -/- mice died at birth with the same spectrum of developmental anomalies as Wdpcp(cys40) mice. No laterality defects were observed in Wdpcp -/- or Wdpcp(cys40) mice. Examination of Wdpcp(cys40) mutant embryos and MEFs revealed defective ciliogenesis in primary cilia, but not in motile cilia. Most Wdpcp(cys40) MEFs lacked primary cilia, and those rare cells that had cilia showed absence or mislocalization of Sept2, Mks1, and Nphp1 (<a href="/entry/607100">607100</a>) at the ciliary transition zone. Mutant embryos and cells showed disruption of Shh (<a href="/entry/600725">600725</a>) signaling and PCP defects, including reduced expression of noncanonical Wnt (see <a href="/entry/606359">606359</a>) and upregulated canonical Wnt signaling. Wdpcp(cys40) cells in culture also showed absence of Sept2-positive stress fibers, reduced membrane ruffling, abnormally strong focal contacts, and lack of polarized movement. The function of Wdpcp did not appear to be conserved in lower vertebrates, since morpholino-mediated knockdown of wdpcp in zebrafish caused a constellation of phenotypes indicative of motile cilia defects but did not disrupt ciliogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24302887" 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="#8" class="mim-tip-reference" title="Toriyama, M., Lee, C., Taylor, S. P., Duran, I., Cohn, D. H., Bruel, A.-L., Tabler, J. M., Drew, K., Kelly, M. R., Kim, S., Park, T. J., Braun, D. A., and 21 others. <strong>The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.</strong> Nature Genet. 48: 648-656, 2016. Note: Erratum: Nature Genet. 48: 970 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27158779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27158779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27158779[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/10.1038/ng.3558" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27158779">Toriyama et al. (2016)</a> generated Wdpcp-null mice and observed polydactyly with Y-shaped metacarpals at embryonic day 14.5. In addition, mutant palatal condensations formed more medially than in wildtype embryos and failed to extend into the mouth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27158779" 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 cDNA from a patient with Bardet-Biedl syndrome-15 (BBS15; <a href="/entry/615992">615992</a>), <a href="#4" class="mim-tip-reference" title="Kim, S. K., Shindo, A., Park, T. J., Oh, E. C., Ghosh, S., Gray, R. S., Lewis, R. A., Johnson, C. A., Attie-Bittach, T., Katsanis, N., Wallingford, J. B. <strong>Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.</strong> Science 329: 1337-1340, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20671153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20671153</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20671153[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/10.1126/science.1191184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20671153">Kim et al. (2010)</a> identified homozygosity for a G-to-T transition at the -1 position of a splice site in the WDPCP gene. Both parents and an unaffected sib were heterozygous carriers. The mutation, which occurred at a position invariant in Fritz, was not identified in 384 control chromosomes, HapMap, or 1,000 genomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20671153" 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">rs267606692 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606692;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=rs267606692" 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=rs267606692" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with Bardet-Biedl syndrome-12 (BBS12; <a href="/entry/615989">615989</a>), <a href="#4" class="mim-tip-reference" title="Kim, S. K., Shindo, A., Park, T. J., Oh, E. C., Ghosh, S., Gray, R. S., Lewis, R. A., Johnson, C. A., Attie-Bittach, T., Katsanis, N., Wallingford, J. B. <strong>Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.</strong> Science 329: 1337-1340, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20671153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20671153</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20671153[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/10.1126/science.1191184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20671153">Kim et al. (2010)</a> identified heterozygosity for a c.624G-C transversion in the WDPCP gene, resulting in a leucine-to-phenylalanine substitution at codon 208 (L208F). The patient was also compound heterozygous for mutations in the BBS12 gene (<a href="/entry/610683">610683</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20671153" 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>.0003 MECKEL SYNDROME, TYPE 6, MODIFIER OF</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267606693 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606693;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/rs267606693?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=rs267606693" 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=rs267606693" 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=RCV000000064" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000064" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000064</a>
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<p>In a patient with Meckel-Gruber syndrome-6 (MKS6; <a href="/entry/612284">612284</a>), <a href="#4" class="mim-tip-reference" title="Kim, S. K., Shindo, A., Park, T. J., Oh, E. C., Ghosh, S., Gray, R. S., Lewis, R. A., Johnson, C. A., Attie-Bittach, T., Katsanis, N., Wallingford, J. B. <strong>Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.</strong> Science 329: 1337-1340, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20671153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20671153</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20671153[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/10.1126/science.1191184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20671153">Kim et al. (2010)</a> identified heterozygosity for an arginine-to-leucine substitution at codon 55 of the WDPCP gene (R55K). The mutation arose from a c.164G-A transition. This patient was also compound heterozygous for mutations in the CC2D2A gene (<a href="/entry/612013">612013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20671153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 CONGENITAL HEART DEFECTS, HAMARTOMAS OF THE TONGUE, AND POLYSYNDACTYLY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs200322968 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200322968;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/rs200322968?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=rs200322968" 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=rs200322968" 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=RCV000150109 OR RCV000779330 OR RCV000851198 OR RCV001325297 OR RCV003422040 OR RCV005031656" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000150109, RCV000779330, RCV000851198, RCV001325297, RCV003422040, RCV005031656" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000150109...</a>
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<p><a href="#6" class="mim-tip-reference" title="Saari, J., Lovell, M. A., Yu, H.-C., Bellus, G. A. <strong>Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.</strong> Am. J. Med. Genet. 167A: 421-427, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25427950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25427950</a>] [<a href="https://doi.org/10.1002/ajmg.a.36852" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25427950">Saari et al. (2015)</a> reported a 3-year-old girl with congenital heart defects, hamartomas of the tongue, and polysyndactyly (CHDTHP; <a href="/entry/217085">217085</a>) who was compound heterozygous for mutations in the WDPCP gene. One was a c.160G-A transition that resulted in an asp54-to-asn (D54N) substitution. The patient's mother was heterozygous for this mutation, and neither of the unaffected sibs carried it. The D54N substitution is highly conserved throughout evolution, through zebrafish and water flea; the variant is directly adjacent to the R55K (<a href="#0003">613580.0003</a>) nonsynonymous coding variant reported by <a href="#4" class="mim-tip-reference" title="Kim, S. K., Shindo, A., Park, T. J., Oh, E. C., Ghosh, S., Gray, R. S., Lewis, R. A., Johnson, C. A., Attie-Bittach, T., Katsanis, N., Wallingford, J. B. <strong>Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.</strong> Science 329: 1337-1340, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20671153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20671153</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20671153[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/10.1126/science.1191184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20671153">Kim et al. (2010)</a> in a patient with Meckel syndrome-6 (MKS6; <a href="/entry/612284">612284</a>). The D54N missense mutation was predicted to be deleterious by multiple algorithms due to the charge change, and may also disrupt a splice site. It was not found in the 1000 Genomes Project database and was found only once in the Exome Sequencing Project database, with a frequency of 1 in 11,827. The other mutation in WDPCP was a 2-bp deletion, c.552_553del, resulting in a frameshift substitution following cys185 (C185fs). This mutation was present in the patient's asymptomatic father, brother, and sister. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25427950+20671153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 5-year-old Luxembourger boy (case 1) with CHDTHP, <a href="#8" class="mim-tip-reference" title="Toriyama, M., Lee, C., Taylor, S. P., Duran, I., Cohn, D. H., Bruel, A.-L., Tabler, J. M., Drew, K., Kelly, M. R., Kim, S., Park, T. J., Braun, D. A., and 21 others. <strong>The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.</strong> Nature Genet. 48: 648-656, 2016. Note: Erratum: Nature Genet. 48: 970 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27158779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27158779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27158779[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/10.1038/ng.3558" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27158779">Toriyama et al. (2016)</a> identified compound heterozygosity for the D54N mutation and a 2-bp deletion (526_527delTT; <a href="#0006">613580.0006</a>) in the WDPCP gene. The latter mutation was predicted to cause a frameshift resulting in a premature termination codon (Leu176Ilefs*21). His unaffected parents were each heterozygous for 1 of the mutations. The D54N mutation was referred to as D54A, and the effect of the frameshift mutation given as Leu176PhefsTer23, in Figure 6 of the report. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27158779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 CONGENITAL HEART DEFECTS, HAMARTOMAS OF THE TONGUE, AND POLYSYNDACTYLY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs727503781 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727503781;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/rs727503781?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=rs727503781" 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=rs727503781" 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=RCV000150108 OR RCV005089724" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000150108, RCV005089724" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000150108...</a>
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<p>For discussion of the c.552_553del mutation in the WDPCP gene that was found in compound heterozygous state in a patient with congenital heart defects, hamartomas of the tongue, and polysyndactyly (CHDTHP; <a href="/entry/217085">217085</a>) by <a href="#6" class="mim-tip-reference" title="Saari, J., Lovell, M. A., Yu, H.-C., Bellus, G. A. <strong>Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.</strong> Am. J. Med. Genet. 167A: 421-427, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25427950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25427950</a>] [<a href="https://doi.org/10.1002/ajmg.a.36852" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25427950">Saari et al. (2015)</a>, see <a href="#0004">613580.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25427950" 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>.0006 CONGENITAL HEART DEFECTS, HAMARTOMAS OF THE TONGUE, AND POLYSYNDACTYLY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1575420160 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1575420160;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=rs1575420160" 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=rs1575420160" 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=RCV000851199 OR RCV001257318" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000851199, RCV001257318" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000851199...</a>
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<p>For discussion of the c.526_527delTT mutation in the WDPCP gene that was found in compound heterozygous state in a patient with congenital heart defects, hamartomas of the tongue, and polysyndactyly (CHDTHP; <a href="/entry/217085">217085</a>) by <a href="#8" class="mim-tip-reference" title="Toriyama, M., Lee, C., Taylor, S. P., Duran, I., Cohn, D. H., Bruel, A.-L., Tabler, J. M., Drew, K., Kelly, M. R., Kim, S., Park, T. J., Braun, D. A., and 21 others. <strong>The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.</strong> Nature Genet. 48: 648-656, 2016. Note: Erratum: Nature Genet. 48: 970 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27158779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27158779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27158779[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/10.1038/ng.3558" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27158779">Toriyama et al. (2016)</a>, see <a href="#0004">613580.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27158779" 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>.0007 BARDET-BIEDL SYNDROME 15</strong>
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WDPCP, NT1601, G-T, +1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1673664656 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1673664656;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=rs1673664656" 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=rs1673664656" 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=RCV001175234" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001175234" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001175234</a>
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<p>In a 14-year-old boy (19DG2145) with Bardet-Biedl syndrome (BBS15; <a href="/entry/615992">615992</a>) born of first-cousin parents,, <a href="#7" class="mim-tip-reference" title="Shamseldin, H. E., Shaheen, R., Ewida, N., Bubshait, D. K., Alkuraya, H., Almardawi, E., Howaidi, A., Sabr, Y., Abdalla, E. M., Alfaifi, A. Y., Alghamdi, J. M., Alsagheir, A., and 29 others. <strong>The morbid genome of ciliopathies: an update.</strong> Genet. Med. 22: 1051-1060, 2020. Note: Erratum: Genet. Med. 24: 966, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32055034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32055034</a>] [<a href="https://doi.org/10.1038/s41436-020-0761-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32055034">Shamseldin et al. (2020)</a> identified homozygosity for a splice site mutation (c.1601+1G-T, NM_001042692.3) in the WDPCP gene. He had retinitis pigmentosa, obesity, impaired cognition, poor pupillary reaction to light, and noticeably large hands and feet. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32055034" 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="0008" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0008 BARDET-BIEDL SYNDROME 15</strong>
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WDPCP, CYS240TER
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004527273" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004527273" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004527273</a>
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<p>In a Pakistani brother and sister (family C) with Bardet-Biedl syndrome (BBS15; <a href="/entry/615992">615992</a>), <a href="#5" class="mim-tip-reference" title="Nawaz, H., Mujahid, Khan, S. A., Bibi, F., Waqas, A., Bari, A., Fardous, Khan, N., Muhammad, N., Khan, A., Paracha, S. A., Alam, Q., Kamal, M. A., Rafeeq, M. M., Muhammad, N., Haq, F. U., Khan, S., Mahmood, A., Khan, S., Umair, M. <strong>Biallelic variants in seven different genes associated with clinically suspected Bardet-Biedl syndrome.</strong> Genes 14: 1113, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37239474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37239474</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37239474[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/10.3390/genes14051113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37239474">Nawaz et al. (2023)</a> identified homozygosity for a c.720C-A transversion (c.720C-A, NM_015910.7) in the WDPCP gene, resulting in a cys240-to-ter (C240X) substitution. Their unaffected first-cousin parents were heterozygous for the mutation, which was not found in their unaffected brother. The variant was predicted to result in a truncated protein of only 239 amino acids, which would activate nonsense-mediated decay machinery causing degradation of the mutant mRNA, with no functional protein being produced. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37239474" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Collier2005" class="mim-anchor"></a>
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Collier, S., Lee, H., Burgess, R., Adler, P.
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<strong>The WD40 repeat protein Fritz links cytoskeletal planar polarity to Frizzled subcellular localization in the Drosophila epidermis.</strong>
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Genetics 169: 2035-2045, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15654087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15654087</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15654087[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=15654087" 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/10.1534/genetics.104.033381" target="_blank">Full Text</a>]
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<a id="Cui2013" class="mim-anchor"></a>
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Cui, C., Chatterjee, B., Lozito, T. P., Zhang, Z., Francis, R. J., Yagi, H., Swanhart, L. M., Sanker, S., Francis, D., Yu, Q., San Agustin, J. T., Puligilla, C., and 10 others.
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<strong>Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton.</strong>
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PLoS Biol. 11: e1001720, 2013. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24302887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24302887</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24302887[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=24302887" 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.pbio.1001720" target="_blank">Full Text</a>]
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<a id="Hartz2010" class="mim-anchor"></a>
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 10/7/2010.
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<a id="Kim2010" class="mim-anchor"></a>
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Kim, S. K., Shindo, A., Park, T. J., Oh, E. C., Ghosh, S., Gray, R. S., Lewis, R. A., Johnson, C. A., Attie-Bittach, T., Katsanis, N., Wallingford, J. B.
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<strong>Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.</strong>
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Science 329: 1337-1340, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20671153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20671153</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20671153[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=20671153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1191184" target="_blank">Full Text</a>]
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Nawaz, H., Mujahid, Khan, S. A., Bibi, F., Waqas, A., Bari, A., Fardous, Khan, N., Muhammad, N., Khan, A., Paracha, S. A., Alam, Q., Kamal, M. A., Rafeeq, M. M., Muhammad, N., Haq, F. U., Khan, S., Mahmood, A., Khan, S., Umair, M.
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<strong>Biallelic variants in seven different genes associated with clinically suspected Bardet-Biedl syndrome.</strong>
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Genes 14: 1113, 2023.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37239474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37239474</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37239474[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=37239474" 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/10.3390/genes14051113" target="_blank">Full Text</a>]
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<a id="Saari2015" class="mim-anchor"></a>
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Saari, J., Lovell, M. A., Yu, H.-C., Bellus, G. A.
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<strong>Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.</strong>
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Am. J. Med. Genet. 167A: 421-427, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25427950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25427950</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25427950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.36852" target="_blank">Full Text</a>]
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<a id="Shamseldin2020" class="mim-anchor"></a>
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Shamseldin, H. E., Shaheen, R., Ewida, N., Bubshait, D. K., Alkuraya, H., Almardawi, E., Howaidi, A., Sabr, Y., Abdalla, E. M., Alfaifi, A. Y., Alghamdi, J. M., Alsagheir, A., and 29 others.
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<strong>The morbid genome of ciliopathies: an update.</strong>
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Genet. Med. 22: 1051-1060, 2020. Note: Erratum: Genet. Med. 24: 966, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32055034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32055034</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32055034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41436-020-0761-1" target="_blank">Full Text</a>]
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<a id="Toriyama2016" class="mim-anchor"></a>
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Toriyama, M., Lee, C., Taylor, S. P., Duran, I., Cohn, D. H., Bruel, A.-L., Tabler, J. M., Drew, K., Kelly, M. R., Kim, S., Park, T. J., Braun, D. A., and 21 others.
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<strong>The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.</strong>
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Nature Genet. 48: 648-656, 2016. Note: Erratum: Nature Genet. 48: 970 only, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27158779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27158779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27158779[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=27158779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.3558" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 05/02/2024
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Marla J. F. O'Neill - updated : 09/24/2020<br>Bao Lige - updated : 04/26/2018<br>Marla J. F. O'Neill - updated : 03/30/2018<br>Ada Hamosh - updated : 1/26/2015<br>Patricia A. Hartz - updated : 10/29/2014<br>Patricia A. Hartz - updated : 10/7/2010
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Creation Date:
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Ada Hamosh : 10/4/2010
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alopez : 05/02/2024
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mgross : 08/24/2023<br>alopez : 09/24/2020<br>mgross : 04/26/2018<br>mgross : 04/26/2018<br>carol : 03/30/2018<br>alopez : 07/28/2015<br>carol : 7/28/2015<br>alopez : 1/26/2015<br>carol : 11/6/2014<br>mgross : 10/31/2014<br>mcolton : 10/29/2014<br>carol : 10/24/2014<br>alopez : 10/17/2014<br>alopez : 10/16/2014<br>alopez : 10/7/2014<br>alopez : 10/7/2014<br>alopez : 3/8/2012<br>alopez : 11/1/2010<br>alopez : 10/7/2010<br>alopez : 10/4/2010<br>alopez : 10/4/2010
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<strong>*</strong> 613580
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WD REPEAT-CONTAINING PLANAR CELL POLARITY EFFECTOR; WDPCP
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CHROMOSOME 2 OPEN READING FRAME 86; C2ORF86<br />
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FRITZ, DROSOPHILA, HOMOLOG OF<br />
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BBS15 GENE; BBS15
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<strong><em>HGNC Approved Gene Symbol: WDPCP</em></strong>
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Cytogenetic location: 2p15
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<span class="small">(from NCBI)</span>
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Inheritance
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2p15
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Bardet-Biedl syndrome 15
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615992
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Autosomal recessive
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3
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Congenital heart defects, hamartomas of tongue, and polysyndactyly
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217085
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Autosomal recessive
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>The WDPCP gene encodes an ortholog of Drosophila 'fritz,' a cytoplasmic WD40 repeat protein that controls planar cell polarity (Kim et al., 2010). WDPCP localizes to the base of cilia and the actin cytoskeleton and is required for ciliogenesis and directional cell migration (Cui et al., 2013). </p>
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<strong>Cloning and Expression</strong>
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<p>In Drosophila, Collier et al. (2005) characterized 'fritz' (frtz), which encodes an evolutionarily conserved coiled-coil WD40 protein that functions cell-autonomously downstream of the core planar cell polarity (PCP) proteins (e.g., 'frizzled' 603408 and 'dishevelled' 601365) to regulate both the location and number of wing cell prehair initiation sites. </p><p>Collier et al. (2005) found that the human Fritz gene encodes a protein of 713 amino acids with a coiled-coil domain, 2 WD40 repeats, and a proline-enriched domain. The proline-rich region of Fritz is the most divergent among species. In the fly it contains 14.5% proline and was predicted to fold as a random coil. In the mammalian Fritz protein, the equivalent region is shorter and not significantly proline-rich, and is remarkably diverged between mouse and human, showing just 45% identity compared with 82% for the rest of the protein. The fly, mouse, and human Fritz proteins share a highly conserved hydrophobic 10-amino acid peptide at the extreme C terminus of the protein. The 2 WD40 repeats of mammalian Fritz fold together to form a beta-propeller structure that provides surfaces for protein-protein interaction. </p><p>Using immunohistochemical analysis, Cui et al. (2013) found that mouse Wdpcp was a ciliary protein that colocalized with Sept2 (601506) in a ring-like structure at the base of cilia in IMCD3 mouse inner medullary collecting duct cells and in transfected NIH3T3 fibroblasts. Wdpcp also colocalized with Sept2 in actin filaments in mouse embryonic fibroblasts (MEFs). </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>Hartz (2010) mapped the WDPCP gene to chromosome 2p15 based on an alignment of the WDPCP sequence (GenBank AF131737) with the genomic sequence (GRCh37).</p><p>Cui et al. (2013) stated that the mouse Wdpcp gene maps to chromosome 11. </p>
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<strong>Gene Function</strong>
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<p>Kim et al. (2010) identified control of septin (see SEPT7, 603151) localization by the PCP protein Fritz as a crucial control point for both collective cell movement and ciliogenesis in Xenopus embryos. The authors demonstrated that Fritz and septins control convergent extension and blastopore closure. Fritz morphants displayed defects in craniofacial morphogenesis and hedgehog (see 600725) signaling similar to those associated with defective ciliogenesis. </p><p>Using tandem affinity purification and mass spectrometry in mouse kidney IMCD3 cells, followed by pull-down and coimmunoprecipitation analyses, Toriyama et al. (2016) identified and characterized a regulatory module that they termed CPLANE (ciliogenesis and planar polarity effector). The core CPLANE complex consisted of Intu (610621), Fuz (610622), and Wdpcp, and these proteins also interacted strongly with Cplane1 (614571) and Rsg1 (CPLANE2; 620487). The authors noted that similar interactions had been observed in high-throughput screens of human proteins and are conserved in Drosophila. Intu, Fuz, Wdpcp, Rsg1, and Cplane1 localized around basal bodies in Xenopus multiciliated cells (MCCs). Knockdown experiments showed a complicated hierarchy of functional interactions among the proteins, with Cplane1, which was required for basal body localization of all the CPLANE proteins but Fuz, at the top of the hierarchy. The proteomic data showed that the CPLANE proteins interacted specifically with core and peripheral intraflagellar transport A (IFT-A) complex subunits, but not with IFT-B subunits. In Xenopus MCCs, Cplane1 was required for recruitment of peripheral IFT-A subunits to basal bodies for assembly onto the IFT-A core. Following knockdown of Cplane1 or Wdpcp, IFT-A core particles lacking peripheral proteins were injected into axonemes and underwent normal bidirectional trafficking, whereas IFT-B particles entered axonemes but failed to move in retrograde direction and accumulated. Toriyama et al. (2016) concluded that CPLANE proteins direct basal body recruitment of IFT machinery and are essential for ciliogenesis. </p>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p><strong><em>Bardet-Biedl Syndrome 15</em></strong></p><p>
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Because of Fritz's role in convergent extension and ciliogenesis in Xenopus, Kim et al. (2010) investigated the contribution of human Fritz to the disorders Meckel-Gruber syndrome (see 249000) and Bardet-Biedl syndrome (209900). Kim et al. (2010) found significant enrichment of nonsynonymous coding changes in human Fritz (C2ORF86) in Meckel-Gruber syndrome and Bardet-Biedl syndrome (BBS15; 615992) patients compared with controls (6 alleles in 192 patients versus zero in 384 patients; p less than 0.015). In the Meckel-Gruber syndrome cohort, Kim et al. (2010) did not identify alleles sufficient to explain the phenotype, which suggested that these changes might interact in trans with the primary Meckel-Gruber syndrome loci. In the Bardet-Biedl syndrome cohort, Kim et al. (2010) found 2 heterozygous missense alleles that were absent from 384 ethnically matched controls, HapMap, and 1,000 genomes. Also, 2 of these changes mapped to the same surface-exposed face of the predicted beta-propeller structure of the Fritz protein. Notably, Kim et al. (2010) found that a homozygous Fritz mutation segregated with the disorder in a Bardet-Biedl syndrome family (613580.0001). </p><p>From a cohort of 125 families with ciliopathies, Shamseldin et al. (2020) identified a 14-year-old boy with BBS who was homozygous for a splice site mutation in the WDPCP gene (613580.0007). </p><p>From a cohort of 10 Pakistani families with BBS, Nawaz et al. (2023) identified a brother and sister who were homozygous for a nonsense mutation in the WDPCP gene (C240X; 613580.0008) that segregated fully with disease in their family. </p><p><strong><em>Congenital Heart Defects, Hamartomas of the Tongue, and Polysyndactyly</em></strong></p><p>
|
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Saari et al. (2015) reported a girl with congenital heart defects, hamartomas of the tongue, and polysyndactyly (CHDTHP; 217085) who was compound heterozygous for a missense (D54N; 613580.0004) and a frameshift mutation (613580.0005). </p><p>In a 5-year-old boy from Luxembourg with CHDTHP, Toriyama et al. (2016) identified compound heterozygosity for the previously reported D54N mutation and a frameshift mutation (613580.0006) in the WDPCP gene. </p>
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<strong>Animal Model</strong>
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<p>Using an ethylnitrosourea mutagenesis screen,Cui et al. (2013) identified mice with a mutation in Wdpcp that they called Wdpcp(cys40). The Wdpcp(cys40) mutation was a 224A-G transition that caused a splicing defect in the Wdpcp transcript and premature termination of the Wdpcp protein. No Wdpcp(cys40) protein was detected in mutant mice. Wdpcp(cys40) mice had a phenotype similar to that of Mks1 (609883) mutant mice, including anophthalmia, cysts in kidney and other organs, complex congenital heart defects, including truncus arteriosus or pulmonary atresia, and atrioventricular septal defects. Some Wdpcp(cys40) mice had duplex kidney, facial cleft and/or cleft palate, tracheoesophageal fistula, and cloacal septation defects. Wdpcp -/- mice died at birth with the same spectrum of developmental anomalies as Wdpcp(cys40) mice. No laterality defects were observed in Wdpcp -/- or Wdpcp(cys40) mice. Examination of Wdpcp(cys40) mutant embryos and MEFs revealed defective ciliogenesis in primary cilia, but not in motile cilia. Most Wdpcp(cys40) MEFs lacked primary cilia, and those rare cells that had cilia showed absence or mislocalization of Sept2, Mks1, and Nphp1 (607100) at the ciliary transition zone. Mutant embryos and cells showed disruption of Shh (600725) signaling and PCP defects, including reduced expression of noncanonical Wnt (see 606359) and upregulated canonical Wnt signaling. Wdpcp(cys40) cells in culture also showed absence of Sept2-positive stress fibers, reduced membrane ruffling, abnormally strong focal contacts, and lack of polarized movement. The function of Wdpcp did not appear to be conserved in lower vertebrates, since morpholino-mediated knockdown of wdpcp in zebrafish caused a constellation of phenotypes indicative of motile cilia defects but did not disrupt ciliogenesis. </p><p>Toriyama et al. (2016) generated Wdpcp-null mice and observed polydactyly with Y-shaped metacarpals at embryonic day 14.5. In addition, mutant palatal condensations formed more medially than in wildtype embryos and failed to extend into the mouth. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>8 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 BARDET-BIEDL SYNDROME 15</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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WDPCP, NT76, G-T, -1
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<br />
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SNP: rs397704728,
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ClinVar: RCV000000062
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In cDNA from a patient with Bardet-Biedl syndrome-15 (BBS15; 615992), Kim et al. (2010) identified homozygosity for a G-to-T transition at the -1 position of a splice site in the WDPCP gene. Both parents and an unaffected sib were heterozygous carriers. The mutation, which occurred at a position invariant in Fritz, was not identified in 384 control chromosomes, HapMap, or 1,000 genomes. </p>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 BARDET-BIEDL SYNDROME 12, MODIFIER OF</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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WDPCP, LEU208PHE
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<br />
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SNP: rs267606692,
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ClinVar: RCV000000063
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with Bardet-Biedl syndrome-12 (BBS12; 615989), Kim et al. (2010) identified heterozygosity for a c.624G-C transversion in the WDPCP gene, resulting in a leucine-to-phenylalanine substitution at codon 208 (L208F). The patient was also compound heterozygous for mutations in the BBS12 gene (610683). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 MECKEL SYNDROME, TYPE 6, MODIFIER OF</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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WDPCP, ARG55LYS
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<br />
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SNP: rs267606693,
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gnomAD: rs267606693,
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ClinVar: RCV000000064
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with Meckel-Gruber syndrome-6 (MKS6; 612284), Kim et al. (2010) identified heterozygosity for an arginine-to-leucine substitution at codon 55 of the WDPCP gene (R55K). The mutation arose from a c.164G-A transition. This patient was also compound heterozygous for mutations in the CC2D2A gene (612013). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 CONGENITAL HEART DEFECTS, HAMARTOMAS OF THE TONGUE, AND POLYSYNDACTYLY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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WDPCP, ASP54ASN
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<br />
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SNP: rs200322968,
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gnomAD: rs200322968,
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ClinVar: RCV000150109, RCV000779330, RCV000851198, RCV001325297, RCV003422040, RCV005031656
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Saari et al. (2015) reported a 3-year-old girl with congenital heart defects, hamartomas of the tongue, and polysyndactyly (CHDTHP; 217085) who was compound heterozygous for mutations in the WDPCP gene. One was a c.160G-A transition that resulted in an asp54-to-asn (D54N) substitution. The patient's mother was heterozygous for this mutation, and neither of the unaffected sibs carried it. The D54N substitution is highly conserved throughout evolution, through zebrafish and water flea; the variant is directly adjacent to the R55K (613580.0003) nonsynonymous coding variant reported by Kim et al. (2010) in a patient with Meckel syndrome-6 (MKS6; 612284). The D54N missense mutation was predicted to be deleterious by multiple algorithms due to the charge change, and may also disrupt a splice site. It was not found in the 1000 Genomes Project database and was found only once in the Exome Sequencing Project database, with a frequency of 1 in 11,827. The other mutation in WDPCP was a 2-bp deletion, c.552_553del, resulting in a frameshift substitution following cys185 (C185fs). This mutation was present in the patient's asymptomatic father, brother, and sister. </p><p>In a 5-year-old Luxembourger boy (case 1) with CHDTHP, Toriyama et al. (2016) identified compound heterozygosity for the D54N mutation and a 2-bp deletion (526_527delTT; 613580.0006) in the WDPCP gene. The latter mutation was predicted to cause a frameshift resulting in a premature termination codon (Leu176Ilefs*21). His unaffected parents were each heterozygous for 1 of the mutations. The D54N mutation was referred to as D54A, and the effect of the frameshift mutation given as Leu176PhefsTer23, in Figure 6 of the report. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CONGENITAL HEART DEFECTS, HAMARTOMAS OF THE TONGUE, AND POLYSYNDACTYLY</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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WDPCP, 2-BP DEL, NT552
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<br />
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|
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SNP: rs727503781,
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gnomAD: rs727503781,
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|
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ClinVar: RCV000150108, RCV005089724
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|
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>For discussion of the c.552_553del mutation in the WDPCP gene that was found in compound heterozygous state in a patient with congenital heart defects, hamartomas of the tongue, and polysyndactyly (CHDTHP; 217085) by Saari et al. (2015), see 613580.0004. </p>
|
|
</span>
|
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CONGENITAL HEART DEFECTS, HAMARTOMAS OF THE TONGUE, AND POLYSYNDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
WDPCP, 2-BP DEL, NT526
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|
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|
|
<br />
|
|
|
|
SNP: rs1575420160,
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|
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|
|
|
|
|
ClinVar: RCV000851199, RCV001257318
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.526_527delTT mutation in the WDPCP gene that was found in compound heterozygous state in a patient with congenital heart defects, hamartomas of the tongue, and polysyndactyly (CHDTHP; 217085) by Toriyama et al. (2016), see 613580.0004. </p>
|
|
</span>
|
|
</div>
|
|
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|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 BARDET-BIEDL SYNDROME 15</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
WDPCP, NT1601, G-T, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1673664656,
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|
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|
|
ClinVar: RCV001175234
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 14-year-old boy (19DG2145) with Bardet-Biedl syndrome (BBS15; 615992) born of first-cousin parents,, Shamseldin et al. (2020) identified homozygosity for a splice site mutation (c.1601+1G-T, NM_001042692.3) in the WDPCP gene. He had retinitis pigmentosa, obesity, impaired cognition, poor pupillary reaction to light, and noticeably large hands and feet. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
|
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 BARDET-BIEDL SYNDROME 15</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
WDPCP, CYS240TER
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|
<br />
|
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|
|
ClinVar: RCV004527273
|
|
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|
|
|
</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Pakistani brother and sister (family C) with Bardet-Biedl syndrome (BBS15; 615992), Nawaz et al. (2023) identified homozygosity for a c.720C-A transversion (c.720C-A, NM_015910.7) in the WDPCP gene, resulting in a cys240-to-ter (C240X) substitution. Their unaffected first-cousin parents were heterozygous for the mutation, which was not found in their unaffected brother. The variant was predicted to result in a truncated protein of only 239 amino acids, which would activate nonsense-mediated decay machinery causing degradation of the mutant mRNA, with no functional protein being produced. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
|
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
|
Collier, S., Lee, H., Burgess, R., Adler, P.
|
|
<strong>The WD40 repeat protein Fritz links cytoskeletal planar polarity to Frizzled subcellular localization in the Drosophila epidermis.</strong>
|
|
Genetics 169: 2035-2045, 2005.
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[PubMed: 15654087]
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[Full Text: https://doi.org/10.1534/genetics.104.033381]
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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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Cui, C., Chatterjee, B., Lozito, T. P., Zhang, Z., Francis, R. J., Yagi, H., Swanhart, L. M., Sanker, S., Francis, D., Yu, Q., San Agustin, J. T., Puligilla, C., and 10 others.
|
|
<strong>Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton.</strong>
|
|
PLoS Biol. 11: e1001720, 2013. Note: Electronic Article.
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[PubMed: 24302887]
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[Full Text: https://doi.org/10.1371/journal.pbio.1001720]
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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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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 10/7/2010.
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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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Kim, S. K., Shindo, A., Park, T. J., Oh, E. C., Ghosh, S., Gray, R. S., Lewis, R. A., Johnson, C. A., Attie-Bittach, T., Katsanis, N., Wallingford, J. B.
|
|
<strong>Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.</strong>
|
|
Science 329: 1337-1340, 2010.
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|
[PubMed: 20671153]
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[Full Text: https://doi.org/10.1126/science.1191184]
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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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Nawaz, H., Mujahid, Khan, S. A., Bibi, F., Waqas, A., Bari, A., Fardous, Khan, N., Muhammad, N., Khan, A., Paracha, S. A., Alam, Q., Kamal, M. A., Rafeeq, M. M., Muhammad, N., Haq, F. U., Khan, S., Mahmood, A., Khan, S., Umair, M.
|
|
<strong>Biallelic variants in seven different genes associated with clinically suspected Bardet-Biedl syndrome.</strong>
|
|
Genes 14: 1113, 2023.
|
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|
[PubMed: 37239474]
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[Full Text: https://doi.org/10.3390/genes14051113]
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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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Saari, J., Lovell, M. A., Yu, H.-C., Bellus, G. A.
|
|
<strong>Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.</strong>
|
|
Am. J. Med. Genet. 167A: 421-427, 2015.
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[PubMed: 25427950]
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[Full Text: https://doi.org/10.1002/ajmg.a.36852]
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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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Shamseldin, H. E., Shaheen, R., Ewida, N., Bubshait, D. K., Alkuraya, H., Almardawi, E., Howaidi, A., Sabr, Y., Abdalla, E. M., Alfaifi, A. Y., Alghamdi, J. M., Alsagheir, A., and 29 others.
|
|
<strong>The morbid genome of ciliopathies: an update.</strong>
|
|
Genet. Med. 22: 1051-1060, 2020. Note: Erratum: Genet. Med. 24: 966, 2022.
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|
[PubMed: 32055034]
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[Full Text: https://doi.org/10.1038/s41436-020-0761-1]
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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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Toriyama, M., Lee, C., Taylor, S. P., Duran, I., Cohn, D. H., Bruel, A.-L., Tabler, J. M., Drew, K., Kelly, M. R., Kim, S., Park, T. J., Braun, D. A., and 21 others.
|
|
<strong>The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.</strong>
|
|
Nature Genet. 48: 648-656, 2016. Note: Erratum: Nature Genet. 48: 970 only, 2016.
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[PubMed: 27158779]
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[Full Text: https://doi.org/10.1038/ng.3558]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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Marla J. F. O'Neill - updated : 05/02/2024<br>Marla J. F. O'Neill - updated : 09/24/2020<br>Bao Lige - updated : 04/26/2018<br>Marla J. F. O'Neill - updated : 03/30/2018<br>Ada Hamosh - updated : 1/26/2015<br>Patricia A. Hartz - updated : 10/29/2014<br>Patricia A. Hartz - updated : 10/7/2010
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