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<title>
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Entry
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- *613529 - CENTROSOMAL PROTEIN, 152-KD; CEP152
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- OMIM
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<a href="/search/advanced/entry"> OMIM </a>
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*613529</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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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="#evolution">Evolution</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/613529">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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<div 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=ENSG00000103995;t=ENST00000380950" 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=22995" 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=613529" 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=ENSG00000103995;t=ENST00000380950" 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_001194998,NM_014985,XM_006720437,XM_011521373,XM_011521374,XM_011521375,XM_011521379,XM_011521381,XM_017022015,XM_017022016,XM_024449875,XM_047432252,XM_047432253,XM_047432254,XR_931769" 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_001194998" 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=613529" 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=16778&isoform_id=16778_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/CEP152" 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/4240313,46621276,78070749,109658816,110347568,119597761,194383576,303304991,519668686,578826735,767983650,767983652,767983655,767983669,767983673,1034590061,1034590063,1370466346,2217300469,2217300471,2217300474,2462543249,2462543251,2462543253,2462543255,2462543257,2462543260,2462543262,2462543264,2462543266,2462543268,2462543270,2462543272" 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/O94986" 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=22995" 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=ENSG00000103995;t=ENST00000380950" 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=CEP152" 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=CEP152" 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+22995" 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/CEP152" 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:22995" 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/22995" 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=chr15&hgg_gene=ENST00000559165.1&hgg_start=48729083&hgg_end=48811069&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
|
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:29298" 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=613529[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=613529[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/CEP152/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/ENSG00000103995" 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=CEP152" 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=CEP152" 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=CEP152" 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=CEP152&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/PA142672126" 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:29298" 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://www.mousephenotype.org/data/genes/MGI:2139083" 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/CEP152#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:2139083" 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/22995/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=22995" 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-111005-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
|
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=CEP152&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>
|
|
613529
|
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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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CENTROSOMAL PROTEIN, 152-KD; CEP152
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</span>
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
|
<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
KIAA0912
|
|
</span>
|
|
</h4>
|
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</div>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CEP152" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CEP152</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/15/193?start=-3&limit=10&highlight=193">15q21.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:48729083-48811069&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'})">15:48,729,083-48,811,069</a> </span>
|
|
</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>
|
|
<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=614852,613823" 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/15/193?start=-3&limit=10&highlight=193">
|
|
15q21.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Microcephaly 9, primary, autosomal recessive
|
|
|
|
</span>
|
|
</td>
|
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<td>
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<p>CEP152 is a core protein of the centrosome, a major microtubule-organizing center of animal cells that influences cell shape, polarity, and motility, and has a crucial function in cell division (<a href="#1" class="mim-tip-reference" title="Andersen, J. S., Wilkinson, C. J., Mayor, T., Mortensen, P., Nigg, E. A., Mann, M. <strong>Proteomic characterization of the human centrosome by protein correlation profiling.</strong> Nature 426: 570-574, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14654843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14654843</a>] [<a href="https://doi.org/10.1038/nature02166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14654843">Andersen et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14654843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequencing clones obtained from a size-fractionated brain cDNA library, followed by RT-PCR, <a href="#9" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Oharo, O. <strong>Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 5: 355-364, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10048485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10048485</a>] [<a href="https://doi.org/10.1093/dnares/5.6.355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10048485">Nagase et al. (1998)</a> cloned CEP152, which they designated KIAA0912. The transcript contains a repetitive element in its 3-prime end, and the deduced 1,209-amino acid protein shares significant similarity with Xenopus Numa protein (NUMA1; <a href="/entry/164009">164009</a>). RT-PCR ELISA detected variable expression of CEP152 in all tissues examined, with highest expression in brain, lung, kidney, pancreas, testis, and ovary, and lowest expression in spleen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10048485" 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 mass spectrometry to identify proteins associated with centrosomes purified from the KE-37 human lymphoblastic cell line, followed by database analysis, <a href="#1" class="mim-tip-reference" title="Andersen, J. S., Wilkinson, C. J., Mayor, T., Mortensen, P., Nigg, E. A., Mann, M. <strong>Proteomic characterization of the human centrosome by protein correlation profiling.</strong> Nature 426: 570-574, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14654843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14654843</a>] [<a href="https://doi.org/10.1038/nature02166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14654843">Andersen et al. (2003)</a> identified CEP152. The deduced protein contains 8 coiled-coil domains and has a calculated molecular mass of 151.5 kD. Fluorescence-tagged CEP152 associated with centrosomes in transfected U2OS cells, and salt extraction experiments revealed that it is a core centrosomal protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14654843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By RT-PCR analysis, <a href="#6" class="mim-tip-reference" title="Guernsey, D. L., Jiang, H., Hussin, J., Arnold, M., Bouyakdan, K., Perry, S., Babineau-Sturk, T., Beis, J., Dumas, N., Evans, S. C., Ferguson, M., Matsuoka, M., and 12 others. <strong>Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.</strong> Am. J. Hum. Genet. 87: 40-51, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20598275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20598275</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20598275[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.06.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20598275">Guernsey et al. (2010)</a> detected Cep152 expression in fetal mouse brain at embryonic day 12.5 and embryonic day 14.5, but in situ hybridization studies showed no signal, suggesting a low level of Cep152 expression in embryonic mouse brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20598275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By database analysis, <a href="#11" class="mim-tip-reference" title="Sonnen, K. F., Gabryjonczyk, A.-M., Anselm, E., Stierhof, Y.-D., Nigg, E. A. <strong>Human Cep192 and Cep152 cooperate in Plk4 recruitment and centriole duplication.</strong> J. Cell Sci. 126: 3223-3233, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23641073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23641073</a>] [<a href="https://doi.org/10.1242/jcs.129502" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23641073">Sonnen et al. (2013)</a> identified 4 isoforms of CEP152. The full-length 1,710-amino acid CEP152 isoform has a calculated molecular mass of 196 kD. Smaller isoforms are C-terminally truncated and/or have an in-frame deletion in the N- or C-terminal end. Immunoelectron microscopy detected both long and short isoforms of CEP152 confined to the proximal halves of mature mother centrioles during G1 phase. CEP152 remained confined to the proximity of centrioles throughout mitosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23641073" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Firat-Karalar, E., Rauniyar, N., Yates, J. R., III, Stearns, T. <strong>Proximity interactions among centrosome components identify regulators of centriole duplication.</strong> Curr. Biol. 24: 664-670, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24613305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24613305</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24613305[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cub.2014.01.067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24613305">Firat-Karalar et al. (2014)</a> stated that full-length CEP152 has an N-terminal conserved region, 2 central coiled-coiled regions, and a C-terminal conserved region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24613305" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By radiation hybrid analysis, <a href="#9" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Oharo, O. <strong>Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 5: 355-364, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10048485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10048485</a>] [<a href="https://doi.org/10.1093/dnares/5.6.355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10048485">Nagase et al. (1998)</a> mapped the CEP152 gene to chromosome 15. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10048485" 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="Matyas, G., Alonso, S., Patrignani, A., Marti, M., Arnold, E., Magyar, I., Henggeler, C., Carrel, T., Steinmann, B., Berger, W. <strong>Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome.</strong> Hum. Genet. 122: 23-32, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17492313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17492313</a>] [<a href="https://doi.org/10.1007/s00439-007-0371-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17492313">Matyas et al. (2007)</a> noted that the CEP152 gene maps to chromosome 15q21.1, neighboring the FBN1 gene (<a href="/entry/134797">134797</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17492313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By comparison of the human CEP152 gene with other primate and vertebrate orthologs, <a href="#6" class="mim-tip-reference" title="Guernsey, D. L., Jiang, H., Hussin, J., Arnold, M., Bouyakdan, K., Perry, S., Babineau-Sturk, T., Beis, J., Dumas, N., Evans, S. C., Ferguson, M., Matsuoka, M., and 12 others. <strong>Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.</strong> Am. J. Hum. Genet. 87: 40-51, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20598275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20598275</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20598275[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.06.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20598275">Guernsey et al. (2010)</a> found evidence that the CEP152 gene was subject to positive selection, consistent with adaptive evolution. Eight sites in the protein were specifically identified to be under positive selection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20598275" 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="Dzhindzhev, N. S., Yu, Q. D., Weiskopf, K., Tzolovsky, G., Cunha-Ferreira, I., Riparbelli, M., Rodrigues-Martins, A., Bettencourt-Dias, M., Callaini, G., Glover, D. M. <strong>Asterless is a scaffold for the onset of centriole assembly.</strong> Nature 467: 714-718, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20852615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20852615</a>] [<a href="https://doi.org/10.1038/nature09445" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20852615">Dzhindzhev et al. (2010)</a> demonstrated that the centriolar protein 'Asterless' (Asl) (CEP152) provides a conserved molecular platform, the amino terminus of which interacts with the cryptic Polo box of Plk4 (<a href="/entry/605031">605031</a>) whereas the carboxy terminus interacts with the centriolar protein Sas4 (CPAP; <a href="/entry/609279">609279</a>). Drosophila Asl and human CEP152 are required for the centrosomal loading of Plk4 in Drosophila and CPAP in human cells, respectively. Depletion of Asl or CEP152 caused failure of centrosome duplication; their overexpression led to de novo centriole formation in Drosophila eggs, duplication of free centrosomes in Drosophila embryos, and centrosome amplification in cultured Drosophila and human cells. Overexpression of a Plk4 binding-deficient mutant of Asl prevented centriole duplication in cultured cells and embryos. However, this mutant protein was able to promote microtubule organizing center formation in both embryos and oocytes. Such microtubule organizing centers had pericentriolar material and the centriolar protein Sas4, but no centrioles at their core. Formation of such acentriolar microtubule organizing centers could be phenocopied by overexpression of Sas4 in oocytes or embryos. The findings of <a href="#3" class="mim-tip-reference" title="Dzhindzhev, N. S., Yu, Q. D., Weiskopf, K., Tzolovsky, G., Cunha-Ferreira, I., Riparbelli, M., Rodrigues-Martins, A., Bettencourt-Dias, M., Callaini, G., Glover, D. M. <strong>Asterless is a scaffold for the onset of centriole assembly.</strong> Nature 467: 714-718, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20852615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20852615</a>] [<a href="https://doi.org/10.1038/nature09445" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20852615">Dzhindzhev et al. (2010)</a> identified independent functions for Asl as a scaffold for Plk4 and Sas4 that facilitates self-assembly and duplication of the centriole and organization of pericentriolar material. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20852615" 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="#7" class="mim-tip-reference" title="Kalay, E., Yigit, G., Aslan, Y., Brown, K. E., Pohl, E., Bicknell, L. S., Kayserili, H., Li, Y., Tuysuz, B., Nurnberg, G., Kiess, W., Koegl, M., and 20 others. <strong>CEP152 is a genome maintenance protein disrupted in Seckel syndrome.</strong> Nature Genet. 43: 23-26, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21131973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21131973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21131973[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.725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21131973">Kalay et al. (2011)</a> showed that impaired CEP152 function leads to accumulation of genomic defects resulting from replicative stress through enhanced activation of ATM (<a href="/entry/607585">607585</a>) signaling and increased H2AX (<a href="/entry/601772">601772</a>) phosphorylation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21131973" 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 small interfering RNA, <a href="#11" class="mim-tip-reference" title="Sonnen, K. F., Gabryjonczyk, A.-M., Anselm, E., Stierhof, Y.-D., Nigg, E. A. <strong>Human Cep192 and Cep152 cooperate in Plk4 recruitment and centriole duplication.</strong> J. Cell Sci. 126: 3223-3233, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23641073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23641073</a>] [<a href="https://doi.org/10.1242/jcs.129502" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23641073">Sonnen et al. (2013)</a> found that CEP192 (<a href="/entry/616426">616426</a>) was required for centrosomal localization of CEP152, CEP63 (<a href="/entry/614724">614724</a>), and CPAP and reduced the centrosomal content of PLK4 in U2OS cells. CEP192 interacted directly with CEP152 and PLK4, but not with CEP63 or CPAP. Codepletion of CEP192 and CEP152 completely prevented association of PLK4 with centrosomes and also impaired centriole duplication in U2OS cells. <a href="#11" class="mim-tip-reference" title="Sonnen, K. F., Gabryjonczyk, A.-M., Anselm, E., Stierhof, Y.-D., Nigg, E. A. <strong>Human Cep192 and Cep152 cooperate in Plk4 recruitment and centriole duplication.</strong> J. Cell Sci. 126: 3223-3233, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23641073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23641073</a>] [<a href="https://doi.org/10.1242/jcs.129502" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23641073">Sonnen et al. (2013)</a> did not observe ternary or quaternary CEP152 complexes comprising both CEP192 and either CEP63 or CPAP, suggesting that CEP152 and CEP192 likely form multiple complexes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23641073" 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 a proximity interaction assay with U2OS cells, <a href="#4" class="mim-tip-reference" title="Firat-Karalar, E., Rauniyar, N., Yates, J. R., III, Stearns, T. <strong>Proximity interactions among centrosome components identify regulators of centriole duplication.</strong> Curr. Biol. 24: 664-670, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24613305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24613305</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24613305[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cub.2014.01.067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24613305">Firat-Karalar et al. (2014)</a> confirmed that CEP152 interacted with several major centriolar proteins, including CPAP, CEP63, and CCDC67 (DEUP1; <a href="/entry/617148">617148</a>). The assay also showed an interaction with CDK5RAP2 (<a href="/entry/608201">608201</a>). Coimmunoprecipitation analysis of transfected HEK293T cells revealed a direct interaction between the C-terminal conserved region of CEP152 and CDK5RAP2. Depletion of CEP152 reduced centrosome localization of CDK5RAP2, whereas depletion of CDK5RAP2 had no effect on CEP152 localization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24613305" 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 mass spectrometric analysis, <a href="#5" class="mim-tip-reference" title="Gudi, R., Zou, C., Dhar, J., Gao, Q., Vasu, C. <strong>Centrobin-centrosomal protein 4.1-associated protein (CPAP) interaction promotes CPAP localization to the centrioles during centriole duplication.</strong> J. Biol. Chem. 289: 15166-15178, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24700465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24700465</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24700465[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.M113.531152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24700465">Gudi et al. (2014)</a> identified CEP152 as a centrobin (CNTROB; <a href="/entry/611425">611425</a>)-interacting protein, with the N-terminal region of centrobin binding to CEP152. Centrobin functioned downstream of CEP152 during centriole biogenesis, and its procentriole localization was dependent on CEP152. Knockdown analysis in HeLa cells revealed that centrobin and CPAP were recruited to procentrioles after CEP152. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24700465" 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><strong><em>Primary Microcephaly 9, Autosomal Recessive</em></strong></p><p>
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In 3 unrelated patients from eastern Canada with primary microcephaly-9 (MCPH9; <a href="/entry/614852">614852</a>), <a href="#6" class="mim-tip-reference" title="Guernsey, D. L., Jiang, H., Hussin, J., Arnold, M., Bouyakdan, K., Perry, S., Babineau-Sturk, T., Beis, J., Dumas, N., Evans, S. C., Ferguson, M., Matsuoka, M., and 12 others. <strong>Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.</strong> Am. J. Hum. Genet. 87: 40-51, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20598275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20598275</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20598275[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.06.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20598275">Guernsey et al. (2010)</a> identified homozygous or compound heterozygous mutations in the CEP152 gene (<a href="#0001">613529.0001</a>-<a href="#0002">613529.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20598275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a consanguineous Pakistani family (MCP43) with MCPH9, <a href="#10" class="mim-tip-reference" title="Sajid Hussain, M., Marriam Bakhtiar, S., Farooq, M., Anjum, I., Janzen, E., Reza Toliat, M., Eiberg, H., Kjaer, K. W., Tommerup, N., Noegel, A. A., Nurnberg, P., Baig, S. M., Hansen, L. <strong>Genetic heterogeneity in Pakistani microcephaly families.</strong> Clin. Genet. 83: 446-451, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22775483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22775483</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2012.01932.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22775483">Sajid Hussain et al. (2013)</a> identified 2 homozygous mutations in cis on the same CEP152 allele (<a href="#0008">613529.0008</a>). The mutations, which were found by linkage analysis followed by Sanger sequencing of the candidate gene, segregated with the disorder in the family. The family was ascertained from a larger cohort of 57 consanguineous Pakistani families with autosomal recessive microcephaly who underwent linkage analysis to known MCPH loci. Three families showed linkage to CEP152, but mutations were only identified in 1 family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22775483" 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>Seckel Syndrome 5</em></strong></p><p>
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<a href="#7" class="mim-tip-reference" title="Kalay, E., Yigit, G., Aslan, Y., Brown, K. E., Pohl, E., Bicknell, L. S., Kayserili, H., Li, Y., Tuysuz, B., Nurnberg, G., Kiess, W., Koegl, M., and 20 others. <strong>CEP152 is a genome maintenance protein disrupted in Seckel syndrome.</strong> Nature Genet. 43: 23-26, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21131973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21131973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21131973[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.725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21131973">Kalay et al. (2011)</a> sequenced the CEP152 gene in affected members of 3 Turkish families segregating Seckel syndrome mapping to chromosome 15q21.1-q21.2 (SCKL5; <a href="/entry/613823">613823</a>) and identified a homozygous splice site mutation in intron 4 (<a href="#0003">613529.0003</a>), which cosegregated with the founder haplotype. Through the use of an exome sequencing strategy, <a href="#7" class="mim-tip-reference" title="Kalay, E., Yigit, G., Aslan, Y., Brown, K. E., Pohl, E., Bicknell, L. S., Kayserili, H., Li, Y., Tuysuz, B., Nurnberg, G., Kiess, W., Koegl, M., and 20 others. <strong>CEP152 is a genome maintenance protein disrupted in Seckel syndrome.</strong> Nature Genet. 43: 23-26, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21131973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21131973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21131973[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.725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21131973">Kalay et al. (2011)</a> identified the same mutation in an affected French individual of Turkish origin, who was born to consanguineous parents. By sequence analysis, they identified compound heterozygous mutations in the CEP152 gene in affected individuals of different ethnic origins (<a href="#0004">613529.0004</a>-<a href="#0007">613529.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21131973" 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>Associations Pending Confirmation</em></strong></p><p>
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<a href="#2" class="mim-tip-reference" title="D'Alessandro, L. C. A., Al Turki, S., Manickaraj, A. K., Manase, D., Mulder, B. J. M., Bergin, L., Rosenberg, H. C., Mondal, T., Gordon, E., Lougheed, J., Smythe, J., Devriendt, K., UK10K Consortium, Bhattacharya, S., Watkins, H., Bentham, J., Bowdin, S., Hurles, M. E., Mital, S. <strong>Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.</strong> Genet. Med. 18: 189-198, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25996639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25996639</a>] [<a href="https://doi.org/10.1038/gim.2015.60" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25996639">D'Alessandro et al. (2016)</a> performed whole-exome sequencing in 81 unrelated probands with atrioventricular septal defect (AVSD; see <a href="/entry/606215">606215</a>) to identify potential causal variants in a comprehensive set of 112 genes with strong biological relevance to AVSD. A significant enrichment of rare and rare damaging variants was identified in the gene set, compared with controls (odds ratio (OR) 1.52; 95% confidence interval (CI), 1.35-1.71; p = 4.8 x 10(-11)). The enrichment was specific to AVSD probands, compared with a cohort without AVSD with tetralogy of Fallot (OR 2.25; 95% CI, 1.84-2.76; p = 2.2 x 10(-16)). Six genes, including the syndrome-associated gene CEP152, were enriched for rare variants in AVSD compared with controls. The findings were confirmed in a replication cohort of 81 AVSD probands. <a href="#2" class="mim-tip-reference" title="D'Alessandro, L. C. A., Al Turki, S., Manickaraj, A. K., Manase, D., Mulder, B. J. M., Bergin, L., Rosenberg, H. C., Mondal, T., Gordon, E., Lougheed, J., Smythe, J., Devriendt, K., UK10K Consortium, Bhattacharya, S., Watkins, H., Bentham, J., Bowdin, S., Hurles, M. E., Mital, S. <strong>Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.</strong> Genet. Med. 18: 189-198, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25996639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25996639</a>] [<a href="https://doi.org/10.1038/gim.2015.60" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25996639">D'Alessandro et al. (2016)</a> concluded that mutations in genes with strong biological relevance to AVSD, including syndrome-associated genes, can contribute to AVSD, even in those with isolated heart disease. Eight rare nonsynonymous variants in CEP152 occurred in 9.7% of AVSD cases compared with 4.3% of controls from the Exome Variant Server (EVS) (OR 2.4; p = 0.03). One variant was novel, the rest rare. None of the patients had features of Seckel syndrome (SCKL5; <a href="/entry/613823">613823</a>) or microcephaly (MCPH9; <a href="/entry/614852">614852</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25996639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267606717 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606717;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/rs267606717?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=rs267606717" 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=rs267606717" 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=RCV000000072 OR RCV000413650 OR RCV000763360 OR RCV000778440" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000072, RCV000413650, RCV000763360, RCV000778440" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000072...</a>
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<p>In 2 unrelated patients from eastern Canada with autosomal recessive primary microcephaly-9 (MCPH9; <a href="/entry/614852">614852</a>), <a href="#6" class="mim-tip-reference" title="Guernsey, D. L., Jiang, H., Hussin, J., Arnold, M., Bouyakdan, K., Perry, S., Babineau-Sturk, T., Beis, J., Dumas, N., Evans, S. C., Ferguson, M., Matsuoka, M., and 12 others. <strong>Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.</strong> Am. J. Hum. Genet. 87: 40-51, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20598275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20598275</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20598275[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.06.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20598275">Guernsey et al. (2010)</a> identified a homozygous A-to-C transversion in the CEP152 gene, resulting in a gln265-to-pro (Q265P) substitution predicted to occur in a conserved residue in a coiled-coiled region important for organizing chromosomes for cell division. A third unrelated affected patient was compound heterozygous for the Q265P mutation and a C-to-T transition, resulting in an arg987-to-ter (R987X; <a href="#0002">613529.0002</a>) substitution that was predicted to result in a truncated protein missing 668 amino acids from the C terminus. In vitro functional expression studies in human osteosarcoma-derived cells showed that the R987X-mutant protein could not be detected in centrosomes, whereas the wildtype and Q265P-mutant proteins could both be detected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20598275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE</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> rs267606718 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606718;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/rs267606718?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=rs267606718" 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=rs267606718" 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=RCV000000073 OR RCV003390627" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000073, RCV003390627" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000073...</a>
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<p>For discussion of the arg987-to-ter (R987X) mutation in the CEP152 gene that was found in compound heterozygous state in patients with autosomal recessive primary microcephaly-9 (MCPH9; <a href="/entry/614852">614852</a>) by <a href="#6" class="mim-tip-reference" title="Guernsey, D. L., Jiang, H., Hussin, J., Arnold, M., Bouyakdan, K., Perry, S., Babineau-Sturk, T., Beis, J., Dumas, N., Evans, S. C., Ferguson, M., Matsuoka, M., and 12 others. <strong>Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.</strong> Am. J. Hum. Genet. 87: 40-51, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20598275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20598275</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20598275[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.06.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20598275">Guernsey et al. (2010)</a>, see <a href="#0001">613529.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20598275" 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 SECKEL SYNDROME 5</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> rs966888627 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs966888627;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/rs966888627?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=rs966888627" 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=rs966888627" 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=RCV000024024" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024024" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024024</a>
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<p>In affected members of 5 consanguineous Turkish families segregating Seckel syndrome-5 (SCKL5; <a href="/entry/613823">613823</a>), <a href="#7" class="mim-tip-reference" title="Kalay, E., Yigit, G., Aslan, Y., Brown, K. E., Pohl, E., Bicknell, L. S., Kayserili, H., Li, Y., Tuysuz, B., Nurnberg, G., Kiess, W., Koegl, M., and 20 others. <strong>CEP152 is a genome maintenance protein disrupted in Seckel syndrome.</strong> Nature Genet. 43: 23-26, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21131973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21131973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21131973[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.725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21131973">Kalay et al. (2011)</a> identified a homozygous splice site mutation in intron 4 of the CEP152 gene (261+1G-C). They identified the same mutation in an affected French patient of Turkish descent. The mutation completely disrupted the splice donor site, as shown through RT-PCR analysis of RNA from affected individuals. The mutation was not found in 250 healthy Turkish control individuals. <a href="#7" class="mim-tip-reference" title="Kalay, E., Yigit, G., Aslan, Y., Brown, K. E., Pohl, E., Bicknell, L. S., Kayserili, H., Li, Y., Tuysuz, B., Nurnberg, G., Kiess, W., Koegl, M., and 20 others. <strong>CEP152 is a genome maintenance protein disrupted in Seckel syndrome.</strong> Nature Genet. 43: 23-26, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21131973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21131973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21131973[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.725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21131973">Kalay et al. (2011)</a> found 4 different aberrant transcripts likely to cause loss of protein function though partial functional activity of one mutant protein, val86_asn87del, which could not be excluded. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21131973" 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 SECKEL SYNDROME 5</strong>
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CEP152, TYR678TER
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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> rs182018947 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs182018947;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/rs182018947?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=rs182018947" 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=rs182018947" 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=RCV000145609 OR RCV000286958 OR RCV000490391 OR RCV000515277 OR RCV004019767 OR RCV004556749" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000145609, RCV000286958, RCV000490391, RCV000515277, RCV004019767, RCV004556749" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000145609...</a>
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<p>In a Seckel syndrome patient (SCKL5; <a href="/entry/613823">613823</a>) of Italian origin living in Germany, <a href="#7" class="mim-tip-reference" title="Kalay, E., Yigit, G., Aslan, Y., Brown, K. E., Pohl, E., Bicknell, L. S., Kayserili, H., Li, Y., Tuysuz, B., Nurnberg, G., Kiess, W., Koegl, M., and 20 others. <strong>CEP152 is a genome maintenance protein disrupted in Seckel syndrome.</strong> Nature Genet. 43: 23-26, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21131973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21131973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21131973[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.725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21131973">Kalay et al. (2011)</a> identified compound heterozygosity for 2 mutations in the CEP152 gene: a 2034T-G transversion resulting in a tyr678-to-ter mutation (Y678X) and a splice site mutation at intron 19 (<a href="#0005">613529.0005</a>). The splice site mutation (2694+1G-T) led to retention of the entire intron 19 in the CEP152 mRNA (r.2694G_ins3581, Ile899LeufsX29). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21131973" 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 SECKEL SYNDROME 5</strong>
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CEP152, IVS19DS, 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"><span class="text-primary">●</span> rs1349385657 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1349385657;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/rs1349385657?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=rs1349385657" 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=rs1349385657" 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=RCV000024026 OR RCV003556083" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024026, RCV003556083" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024026...</a>
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<p>For discussion of the splice site mutation (2694+1G-T) in the CEP152 gene that was found in compound heterozygous state in a patient with Seckel syndrome-5 (SCKL5; <a href="/entry/613823">613823</a>) by <a href="#7" class="mim-tip-reference" title="Kalay, E., Yigit, G., Aslan, Y., Brown, K. E., Pohl, E., Bicknell, L. S., Kayserili, H., Li, Y., Tuysuz, B., Nurnberg, G., Kiess, W., Koegl, M., and 20 others. <strong>CEP152 is a genome maintenance protein disrupted in Seckel syndrome.</strong> Nature Genet. 43: 23-26, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21131973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21131973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21131973[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.725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21131973">Kalay et al. (2011)</a>, see <a href="#0004">613529.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21131973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs141600901 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs141600901;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/rs141600901?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=rs141600901" 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=rs141600901" 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=RCV000024027 OR RCV000368310 OR RCV000973527" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024027, RCV000368310, RCV000973527" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024027...</a>
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<p>In an individual from South Africa with Seckel syndrome-5 (SCKL5; <a href="/entry/613823">613823</a>), <a href="#7" class="mim-tip-reference" title="Kalay, E., Yigit, G., Aslan, Y., Brown, K. E., Pohl, E., Bicknell, L. S., Kayserili, H., Li, Y., Tuysuz, B., Nurnberg, G., Kiess, W., Koegl, M., and 20 others. <strong>CEP152 is a genome maintenance protein disrupted in Seckel syndrome.</strong> Nature Genet. 43: 23-26, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21131973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21131973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21131973[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.725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21131973">Kalay et al. (2011)</a> identified compound heterozygosity for 2 mutations in the CEP152 gene: a paternally inherited 2-bp deletion (4210_4211delGT; Val1404fsTer2) in exon 27 and a maternally inherited missense mutation (2000A-G; K667R; <a href="#0007">613529.0007</a>) in exon 15. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21131973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs200879436 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200879436;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/rs200879436?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=rs200879436" 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=rs200879436" 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=RCV000024028 OR RCV000145604 OR RCV000968712" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024028, RCV000145604, RCV000968712" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024028...</a>
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<p>For discussion of the lys667-to-arg (K667R) mutation in the CEP152 gene that was found in compound heterozygous state in a patient with Seckel syndrome-5 (SCKL5; <a href="/entry/613823">613823</a>) by <a href="#7" class="mim-tip-reference" title="Kalay, E., Yigit, G., Aslan, Y., Brown, K. E., Pohl, E., Bicknell, L. S., Kayserili, H., Li, Y., Tuysuz, B., Nurnberg, G., Kiess, W., Koegl, M., and 20 others. <strong>CEP152 is a genome maintenance protein disrupted in Seckel syndrome.</strong> Nature Genet. 43: 23-26, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21131973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21131973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21131973[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.725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21131973">Kalay et al. (2011)</a>, see <a href="#0006">613529.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21131973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE</strong>
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CEP152, LEU1050PRO AND 3-BP DEL, 3676AAC
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555416269 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555416269;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=rs1555416269" 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=rs1555416269" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <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> rs398122977 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122977;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/rs398122977?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=rs398122977" 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=rs398122977" 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=RCV000077752" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000077752" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000077752</a>
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<p>In affected members of a consanguineous Pakistani family (MCP43) with autosomal recessive primary microcephaly-9 (MCPH9; <a href="/entry/614852">614852</a>), <a href="#10" class="mim-tip-reference" title="Sajid Hussain, M., Marriam Bakhtiar, S., Farooq, M., Anjum, I., Janzen, E., Reza Toliat, M., Eiberg, H., Kjaer, K. W., Tommerup, N., Noegel, A. A., Nurnberg, P., Baig, S. M., Hansen, L. <strong>Genetic heterogeneity in Pakistani microcephaly families.</strong> Clin. Genet. 83: 446-451, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22775483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22775483</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2012.01932.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22775483">Sajid Hussain et al. (2013)</a> identified 2 in cis homozygous mutations in the CEP152 gene: a c.3149T-C transition in exon 20, resulting in a leu1050-to-pro (L1050P) substitution, and a 3-bp deletion (c.3676_3678delAAC), resulting in a deletion of Asn1226. The mutations, which were found by linkage analysis followed by Sanger sequencing of the candidate gene, segregated with the disorder in the family: affected individuals had 4 mutations and carriers had 2 mutations on 1 allele. The mutations were not found in 96 control individuals or public SNP databases. The mutations affected highly conserved residues in the C-terminal CPAP-binding domain. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22775483" 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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Andersen, J. S., Wilkinson, C. J., Mayor, T., Mortensen, P., Nigg, E. A., Mann, M.
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<strong>Proteomic characterization of the human centrosome by protein correlation profiling.</strong>
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Nature 426: 570-574, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14654843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14654843</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14654843" 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/nature02166" target="_blank">Full Text</a>]
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D'Alessandro, L. C. A., Al Turki, S., Manickaraj, A. K., Manase, D., Mulder, B. J. M., Bergin, L., Rosenberg, H. C., Mondal, T., Gordon, E., Lougheed, J., Smythe, J., Devriendt, K., UK10K Consortium, Bhattacharya, S., Watkins, H., Bentham, J., Bowdin, S., Hurles, M. E., Mital, S.
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<strong>Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.</strong>
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Genet. Med. 18: 189-198, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25996639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25996639</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25996639" 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/gim.2015.60" target="_blank">Full Text</a>]
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Dzhindzhev, N. S., Yu, Q. D., Weiskopf, K., Tzolovsky, G., Cunha-Ferreira, I., Riparbelli, M., Rodrigues-Martins, A., Bettencourt-Dias, M., Callaini, G., Glover, D. M.
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<strong>Asterless is a scaffold for the onset of centriole assembly.</strong>
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Nature 467: 714-718, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20852615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20852615</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20852615" 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/nature09445" target="_blank">Full Text</a>]
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Firat-Karalar, E., Rauniyar, N., Yates, J. R., III, Stearns, T.
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<strong>Proximity interactions among centrosome components identify regulators of centriole duplication.</strong>
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Curr. Biol. 24: 664-670, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24613305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24613305</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24613305[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=24613305" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.cub.2014.01.067" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Gudi2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gudi, R., Zou, C., Dhar, J., Gao, Q., Vasu, C.
|
|
<strong>Centrobin-centrosomal protein 4.1-associated protein (CPAP) interaction promotes CPAP localization to the centrioles during centriole duplication.</strong>
|
|
J. Biol. Chem. 289: 15166-15178, 2014.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24700465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24700465</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24700465[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=24700465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M113.531152" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Guernsey2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Guernsey, D. L., Jiang, H., Hussin, J., Arnold, M., Bouyakdan, K., Perry, S., Babineau-Sturk, T., Beis, J., Dumas, N., Evans, S. C., Ferguson, M., Matsuoka, M., and 12 others.
|
|
<strong>Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.</strong>
|
|
Am. J. Hum. Genet. 87: 40-51, 2010.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20598275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20598275</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20598275[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=20598275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.06.003" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Kalay2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Kalay, E., Yigit, G., Aslan, Y., Brown, K. E., Pohl, E., Bicknell, L. S., Kayserili, H., Li, Y., Tuysuz, B., Nurnberg, G., Kiess, W., Koegl, M., and 20 others.
|
|
<strong>CEP152 is a genome maintenance protein disrupted in Seckel syndrome.</strong>
|
|
Nature Genet. 43: 23-26, 2011.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21131973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21131973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21131973[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=21131973" 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.725" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Matyas2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Matyas, G., Alonso, S., Patrignani, A., Marti, M., Arnold, E., Magyar, I., Henggeler, C., Carrel, T., Steinmann, B., Berger, W.
|
|
<strong>Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome.</strong>
|
|
Hum. Genet. 122: 23-32, 2007.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17492313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17492313</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17492313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-007-0371-x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Nagase1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Oharo, O.
|
|
<strong>Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
|
DNA Res. 5: 355-364, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10048485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10048485</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10048485" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/5.6.355" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Sajid Hussain2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sajid Hussain, M., Marriam Bakhtiar, S., Farooq, M., Anjum, I., Janzen, E., Reza Toliat, M., Eiberg, H., Kjaer, K. W., Tommerup, N., Noegel, A. A., Nurnberg, P., Baig, S. M., Hansen, L.
|
|
<strong>Genetic heterogeneity in Pakistani microcephaly families.</strong>
|
|
Clin. Genet. 83: 446-451, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22775483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22775483</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22775483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2012.01932.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Sonnen2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sonnen, K. F., Gabryjonczyk, A.-M., Anselm, E., Stierhof, Y.-D., Nigg, E. A.
|
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<strong>Human Cep192 and Cep152 cooperate in Plk4 recruitment and centriole duplication.</strong>
|
|
J. Cell Sci. 126: 3223-3233, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23641073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23641073</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23641073" 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/10.1242/jcs.129502" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Bao Lige - updated : 10/11/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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|
Ada Hamosh - updated : 12/12/2017<br>Patricia A. Hartz - updated : 10/06/2016<br>Patricia A. Hartz - updated : 6/18/2015<br>Cassandra L. Kniffin - updated : 12/17/2013<br>Cassandra L. Kniffin - updated : 10/18/2012<br>Nara Sobreira - updated : 3/22/2011<br>Ada Hamosh - updated : 10/27/2010<br>Cassandra L. Kniffin - updated : 9/16/2010
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Patricia A. Hartz : 8/17/2010
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/12/2022
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
mgross : 10/11/2022<br>carol : 06/13/2018<br>alopez : 12/12/2017<br>mgross : 10/06/2016<br>alopez : 08/12/2015<br>mcolton : 7/30/2015<br>mgross : 6/18/2015<br>mcolton : 6/18/2015<br>carol : 12/19/2013<br>mcolton : 12/18/2013<br>ckniffin : 12/17/2013<br>carol : 10/22/2012<br>ckniffin : 10/18/2012<br>wwang : 6/2/2011<br>terry : 3/25/2011<br>carol : 3/23/2011<br>carol : 3/23/2011<br>terry : 3/22/2011<br>terry : 12/10/2010<br>alopez : 10/27/2010<br>wwang : 9/17/2010<br>ckniffin : 9/16/2010<br>wwang : 8/17/2010
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
|
<strong>*</strong> 613529
|
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</span>
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</h3>
|
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</div>
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<div>
|
|
<h3>
|
|
<span class="mim-font">
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|
|
CENTROSOMAL PROTEIN, 152-KD; CEP152
|
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
KIAA0912
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: CEP152</em></strong>
|
|
</span>
|
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: 15q21.1
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 15:48,729,083-48,811,069 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
15q21.1
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Microcephaly 9, primary, autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
614852
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
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|
|
|
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Seckel syndrome 5
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
613823
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>CEP152 is a core protein of the centrosome, a major microtubule-organizing center of animal cells that influences cell shape, polarity, and motility, and has a crucial function in cell division (Andersen et al., 2003). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated brain cDNA library, followed by RT-PCR, Nagase et al. (1998) cloned CEP152, which they designated KIAA0912. The transcript contains a repetitive element in its 3-prime end, and the deduced 1,209-amino acid protein shares significant similarity with Xenopus Numa protein (NUMA1; 164009). RT-PCR ELISA detected variable expression of CEP152 in all tissues examined, with highest expression in brain, lung, kidney, pancreas, testis, and ovary, and lowest expression in spleen. </p><p>Using mass spectrometry to identify proteins associated with centrosomes purified from the KE-37 human lymphoblastic cell line, followed by database analysis, Andersen et al. (2003) identified CEP152. The deduced protein contains 8 coiled-coil domains and has a calculated molecular mass of 151.5 kD. Fluorescence-tagged CEP152 associated with centrosomes in transfected U2OS cells, and salt extraction experiments revealed that it is a core centrosomal protein. </p><p>By RT-PCR analysis, Guernsey et al. (2010) detected Cep152 expression in fetal mouse brain at embryonic day 12.5 and embryonic day 14.5, but in situ hybridization studies showed no signal, suggesting a low level of Cep152 expression in embryonic mouse brain. </p><p>By database analysis, Sonnen et al. (2013) identified 4 isoforms of CEP152. The full-length 1,710-amino acid CEP152 isoform has a calculated molecular mass of 196 kD. Smaller isoforms are C-terminally truncated and/or have an in-frame deletion in the N- or C-terminal end. Immunoelectron microscopy detected both long and short isoforms of CEP152 confined to the proximal halves of mature mother centrioles during G1 phase. CEP152 remained confined to the proximity of centrioles throughout mitosis. </p><p>Firat-Karalar et al. (2014) stated that full-length CEP152 has an N-terminal conserved region, 2 central coiled-coiled regions, and a C-terminal conserved region. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By radiation hybrid analysis, Nagase et al. (1998) mapped the CEP152 gene to chromosome 15. </p><p>Matyas et al. (2007) noted that the CEP152 gene maps to chromosome 15q21.1, neighboring the FBN1 gene (134797). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Evolution</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By comparison of the human CEP152 gene with other primate and vertebrate orthologs, Guernsey et al. (2010) found evidence that the CEP152 gene was subject to positive selection, consistent with adaptive evolution. Eight sites in the protein were specifically identified to be under positive selection. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Dzhindzhev et al. (2010) demonstrated that the centriolar protein 'Asterless' (Asl) (CEP152) provides a conserved molecular platform, the amino terminus of which interacts with the cryptic Polo box of Plk4 (605031) whereas the carboxy terminus interacts with the centriolar protein Sas4 (CPAP; 609279). Drosophila Asl and human CEP152 are required for the centrosomal loading of Plk4 in Drosophila and CPAP in human cells, respectively. Depletion of Asl or CEP152 caused failure of centrosome duplication; their overexpression led to de novo centriole formation in Drosophila eggs, duplication of free centrosomes in Drosophila embryos, and centrosome amplification in cultured Drosophila and human cells. Overexpression of a Plk4 binding-deficient mutant of Asl prevented centriole duplication in cultured cells and embryos. However, this mutant protein was able to promote microtubule organizing center formation in both embryos and oocytes. Such microtubule organizing centers had pericentriolar material and the centriolar protein Sas4, but no centrioles at their core. Formation of such acentriolar microtubule organizing centers could be phenocopied by overexpression of Sas4 in oocytes or embryos. The findings of Dzhindzhev et al. (2010) identified independent functions for Asl as a scaffold for Plk4 and Sas4 that facilitates self-assembly and duplication of the centriole and organization of pericentriolar material. </p><p>Kalay et al. (2011) showed that impaired CEP152 function leads to accumulation of genomic defects resulting from replicative stress through enhanced activation of ATM (607585) signaling and increased H2AX (601772) phosphorylation. </p><p>Using small interfering RNA, Sonnen et al. (2013) found that CEP192 (616426) was required for centrosomal localization of CEP152, CEP63 (614724), and CPAP and reduced the centrosomal content of PLK4 in U2OS cells. CEP192 interacted directly with CEP152 and PLK4, but not with CEP63 or CPAP. Codepletion of CEP192 and CEP152 completely prevented association of PLK4 with centrosomes and also impaired centriole duplication in U2OS cells. Sonnen et al. (2013) did not observe ternary or quaternary CEP152 complexes comprising both CEP192 and either CEP63 or CPAP, suggesting that CEP152 and CEP192 likely form multiple complexes. </p><p>Using a proximity interaction assay with U2OS cells, Firat-Karalar et al. (2014) confirmed that CEP152 interacted with several major centriolar proteins, including CPAP, CEP63, and CCDC67 (DEUP1; 617148). The assay also showed an interaction with CDK5RAP2 (608201). Coimmunoprecipitation analysis of transfected HEK293T cells revealed a direct interaction between the C-terminal conserved region of CEP152 and CDK5RAP2. Depletion of CEP152 reduced centrosome localization of CDK5RAP2, whereas depletion of CDK5RAP2 had no effect on CEP152 localization. </p><p>Using mass spectrometric analysis, Gudi et al. (2014) identified CEP152 as a centrobin (CNTROB; 611425)-interacting protein, with the N-terminal region of centrobin binding to CEP152. Centrobin functioned downstream of CEP152 during centriole biogenesis, and its procentriole localization was dependent on CEP152. Knockdown analysis in HeLa cells revealed that centrobin and CPAP were recruited to procentrioles after CEP152. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Primary Microcephaly 9, Autosomal Recessive</em></strong></p><p>
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In 3 unrelated patients from eastern Canada with primary microcephaly-9 (MCPH9; 614852), Guernsey et al. (2010) identified homozygous or compound heterozygous mutations in the CEP152 gene (613529.0001-613529.0002). </p><p>In affected members of a consanguineous Pakistani family (MCP43) with MCPH9, Sajid Hussain et al. (2013) identified 2 homozygous mutations in cis on the same CEP152 allele (613529.0008). The mutations, which were found by linkage analysis followed by Sanger sequencing of the candidate gene, segregated with the disorder in the family. The family was ascertained from a larger cohort of 57 consanguineous Pakistani families with autosomal recessive microcephaly who underwent linkage analysis to known MCPH loci. Three families showed linkage to CEP152, but mutations were only identified in 1 family. </p><p><strong><em>Seckel Syndrome 5</em></strong></p><p>
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Kalay et al. (2011) sequenced the CEP152 gene in affected members of 3 Turkish families segregating Seckel syndrome mapping to chromosome 15q21.1-q21.2 (SCKL5; 613823) and identified a homozygous splice site mutation in intron 4 (613529.0003), which cosegregated with the founder haplotype. Through the use of an exome sequencing strategy, Kalay et al. (2011) identified the same mutation in an affected French individual of Turkish origin, who was born to consanguineous parents. By sequence analysis, they identified compound heterozygous mutations in the CEP152 gene in affected individuals of different ethnic origins (613529.0004-613529.0007). </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
D'Alessandro et al. (2016) performed whole-exome sequencing in 81 unrelated probands with atrioventricular septal defect (AVSD; see 606215) to identify potential causal variants in a comprehensive set of 112 genes with strong biological relevance to AVSD. A significant enrichment of rare and rare damaging variants was identified in the gene set, compared with controls (odds ratio (OR) 1.52; 95% confidence interval (CI), 1.35-1.71; p = 4.8 x 10(-11)). The enrichment was specific to AVSD probands, compared with a cohort without AVSD with tetralogy of Fallot (OR 2.25; 95% CI, 1.84-2.76; p = 2.2 x 10(-16)). Six genes, including the syndrome-associated gene CEP152, were enriched for rare variants in AVSD compared with controls. The findings were confirmed in a replication cohort of 81 AVSD probands. D'Alessandro et al. (2016) concluded that mutations in genes with strong biological relevance to AVSD, including syndrome-associated genes, can contribute to AVSD, even in those with isolated heart disease. Eight rare nonsynonymous variants in CEP152 occurred in 9.7% of AVSD cases compared with 4.3% of controls from the Exome Variant Server (EVS) (OR 2.4; p = 0.03). One variant was novel, the rest rare. None of the patients had features of Seckel syndrome (SCKL5; 613823) or microcephaly (MCPH9; 614852). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>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">
|
|
<strong>.0001 MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE</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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CEP152, GLN265PRO
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<br />
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SNP: rs267606717,
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gnomAD: rs267606717,
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ClinVar: RCV000000072, RCV000413650, RCV000763360, RCV000778440
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 2 unrelated patients from eastern Canada with autosomal recessive primary microcephaly-9 (MCPH9; 614852), Guernsey et al. (2010) identified a homozygous A-to-C transversion in the CEP152 gene, resulting in a gln265-to-pro (Q265P) substitution predicted to occur in a conserved residue in a coiled-coiled region important for organizing chromosomes for cell division. A third unrelated affected patient was compound heterozygous for the Q265P mutation and a C-to-T transition, resulting in an arg987-to-ter (R987X; 613529.0002) substitution that was predicted to result in a truncated protein missing 668 amino acids from the C terminus. In vitro functional expression studies in human osteosarcoma-derived cells showed that the R987X-mutant protein could not be detected in centrosomes, whereas the wildtype and Q265P-mutant proteins could both be detected. </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>.0002 MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE</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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CEP152, ARG987TER
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<br />
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SNP: rs267606718,
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gnomAD: rs267606718,
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ClinVar: RCV000000073, RCV003390627
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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>For discussion of the arg987-to-ter (R987X) mutation in the CEP152 gene that was found in compound heterozygous state in patients with autosomal recessive primary microcephaly-9 (MCPH9; 614852) by Guernsey et al. (2010), see 613529.0001. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0003 SECKEL SYNDROME 5</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CEP152, IVS4DS, G-C, +1
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<br />
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SNP: rs966888627,
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gnomAD: rs966888627,
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ClinVar: RCV000024024
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In affected members of 5 consanguineous Turkish families segregating Seckel syndrome-5 (SCKL5; 613823), Kalay et al. (2011) identified a homozygous splice site mutation in intron 4 of the CEP152 gene (261+1G-C). They identified the same mutation in an affected French patient of Turkish descent. The mutation completely disrupted the splice donor site, as shown through RT-PCR analysis of RNA from affected individuals. The mutation was not found in 250 healthy Turkish control individuals. Kalay et al. (2011) found 4 different aberrant transcripts likely to cause loss of protein function though partial functional activity of one mutant protein, val86_asn87del, which could not be excluded. </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 SECKEL SYNDROME 5</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CEP152, TYR678TER
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<br />
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SNP: rs182018947,
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gnomAD: rs182018947,
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ClinVar: RCV000145609, RCV000286958, RCV000490391, RCV000515277, RCV004019767, RCV004556749
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a Seckel syndrome patient (SCKL5; 613823) of Italian origin living in Germany, Kalay et al. (2011) identified compound heterozygosity for 2 mutations in the CEP152 gene: a 2034T-G transversion resulting in a tyr678-to-ter mutation (Y678X) and a splice site mutation at intron 19 (613529.0005). The splice site mutation (2694+1G-T) led to retention of the entire intron 19 in the CEP152 mRNA (r.2694G_ins3581, Ile899LeufsX29). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0005 SECKEL SYNDROME 5</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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|
CEP152, IVS19DS, G-T, +1
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<br />
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SNP: rs1349385657,
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gnomAD: rs1349385657,
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ClinVar: RCV000024026, RCV003556083
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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 splice site mutation (2694+1G-T) in the CEP152 gene that was found in compound heterozygous state in a patient with Seckel syndrome-5 (SCKL5; 613823) by Kalay et al. (2011), see 613529.0004. </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>.0006 SECKEL SYNDROME 5</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CEP152, 2-BP DEL, 4210GT
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<br />
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SNP: rs141600901,
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gnomAD: rs141600901,
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ClinVar: RCV000024027, RCV000368310, RCV000973527
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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 an individual from South Africa with Seckel syndrome-5 (SCKL5; 613823), Kalay et al. (2011) identified compound heterozygosity for 2 mutations in the CEP152 gene: a paternally inherited 2-bp deletion (4210_4211delGT; Val1404fsTer2) in exon 27 and a maternally inherited missense mutation (2000A-G; K667R; 613529.0007) in exon 15. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0007 SECKEL SYNDROME 5</strong>
|
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</span>
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</h4>
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</div>
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<div>
|
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<span class="mim-text-font">
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CEP152, LYS667ARG
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<br />
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SNP: rs200879436,
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gnomAD: rs200879436,
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ClinVar: RCV000024028, RCV000145604, RCV000968712
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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 lys667-to-arg (K667R) mutation in the CEP152 gene that was found in compound heterozygous state in a patient with Seckel syndrome-5 (SCKL5; 613823) by Kalay et al. (2011), see 613529.0006. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0008 MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE</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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CEP152, LEU1050PRO AND 3-BP DEL, 3676AAC
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<br />
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SNP: rs1555416269, rs398122977,
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gnomAD: rs398122977,
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ClinVar: RCV000077752
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</span>
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<p>In affected members of a consanguineous Pakistani family (MCP43) with autosomal recessive primary microcephaly-9 (MCPH9; 614852), Sajid Hussain et al. (2013) identified 2 in cis homozygous mutations in the CEP152 gene: a c.3149T-C transition in exon 20, resulting in a leu1050-to-pro (L1050P) substitution, and a 3-bp deletion (c.3676_3678delAAC), resulting in a deletion of Asn1226. The mutations, which were found by linkage analysis followed by Sanger sequencing of the candidate gene, segregated with the disorder in the family: affected individuals had 4 mutations and carriers had 2 mutations on 1 allele. The mutations were not found in 96 control individuals or public SNP databases. The mutations affected highly conserved residues in the C-terminal CPAP-binding domain. Functional studies were not performed. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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Andersen, J. S., Wilkinson, C. J., Mayor, T., Mortensen, P., Nigg, E. A., Mann, M.
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<strong>Proteomic characterization of the human centrosome by protein correlation profiling.</strong>
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Nature 426: 570-574, 2003.
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[PubMed: 14654843]
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[Full Text: https://doi.org/10.1038/nature02166]
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<li>
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D'Alessandro, L. C. A., Al Turki, S., Manickaraj, A. K., Manase, D., Mulder, B. J. M., Bergin, L., Rosenberg, H. C., Mondal, T., Gordon, E., Lougheed, J., Smythe, J., Devriendt, K., UK10K Consortium, Bhattacharya, S., Watkins, H., Bentham, J., Bowdin, S., Hurles, M. E., Mital, S.
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<strong>Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.</strong>
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Genet. Med. 18: 189-198, 2016.
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[PubMed: 25996639]
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<p class="mim-text-font">
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Dzhindzhev, N. S., Yu, Q. D., Weiskopf, K., Tzolovsky, G., Cunha-Ferreira, I., Riparbelli, M., Rodrigues-Martins, A., Bettencourt-Dias, M., Callaini, G., Glover, D. M.
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<strong>Asterless is a scaffold for the onset of centriole assembly.</strong>
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Nature 467: 714-718, 2010.
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[PubMed: 20852615]
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[Full Text: https://doi.org/10.1038/nature09445]
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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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Firat-Karalar, E., Rauniyar, N., Yates, J. R., III, Stearns, T.
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<strong>Proximity interactions among centrosome components identify regulators of centriole duplication.</strong>
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Curr. Biol. 24: 664-670, 2014.
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[PubMed: 24613305]
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[Full Text: https://doi.org/10.1016/j.cub.2014.01.067]
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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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Gudi, R., Zou, C., Dhar, J., Gao, Q., Vasu, C.
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<strong>Centrobin-centrosomal protein 4.1-associated protein (CPAP) interaction promotes CPAP localization to the centrioles during centriole duplication.</strong>
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J. Biol. Chem. 289: 15166-15178, 2014.
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[PubMed: 24700465]
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[Full Text: https://doi.org/10.1074/jbc.M113.531152]
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<li>
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<p class="mim-text-font">
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Guernsey, D. L., Jiang, H., Hussin, J., Arnold, M., Bouyakdan, K., Perry, S., Babineau-Sturk, T., Beis, J., Dumas, N., Evans, S. C., Ferguson, M., Matsuoka, M., and 12 others.
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<strong>Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.</strong>
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Am. J. Hum. Genet. 87: 40-51, 2010.
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[PubMed: 20598275]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.06.003]
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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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Kalay, E., Yigit, G., Aslan, Y., Brown, K. E., Pohl, E., Bicknell, L. S., Kayserili, H., Li, Y., Tuysuz, B., Nurnberg, G., Kiess, W., Koegl, M., and 20 others.
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<strong>CEP152 is a genome maintenance protein disrupted in Seckel syndrome.</strong>
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Nature Genet. 43: 23-26, 2011.
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[PubMed: 21131973]
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[Full Text: https://doi.org/10.1038/ng.725]
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<li>
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<p class="mim-text-font">
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Matyas, G., Alonso, S., Patrignani, A., Marti, M., Arnold, E., Magyar, I., Henggeler, C., Carrel, T., Steinmann, B., Berger, W.
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<strong>Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome.</strong>
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Hum. Genet. 122: 23-32, 2007.
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[PubMed: 17492313]
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[Full Text: https://doi.org/10.1007/s00439-007-0371-x]
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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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Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Oharo, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 5: 355-364, 1998.
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[PubMed: 10048485]
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[Full Text: https://doi.org/10.1093/dnares/5.6.355]
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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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Sajid Hussain, M., Marriam Bakhtiar, S., Farooq, M., Anjum, I., Janzen, E., Reza Toliat, M., Eiberg, H., Kjaer, K. W., Tommerup, N., Noegel, A. A., Nurnberg, P., Baig, S. M., Hansen, L.
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<strong>Genetic heterogeneity in Pakistani microcephaly families.</strong>
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Clin. Genet. 83: 446-451, 2013.
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[PubMed: 22775483]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2012.01932.x]
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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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Sonnen, K. F., Gabryjonczyk, A.-M., Anselm, E., Stierhof, Y.-D., Nigg, E. A.
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<strong>Human Cep192 and Cep152 cooperate in Plk4 recruitment and centriole duplication.</strong>
|
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J. Cell Sci. 126: 3223-3233, 2013.
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[PubMed: 23641073]
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[Full Text: https://doi.org/10.1242/jcs.129502]
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</p>
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</li>
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</ol>
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 10/11/2022<br>Ada Hamosh - updated : 12/12/2017<br>Patricia A. Hartz - updated : 10/06/2016<br>Patricia A. Hartz - updated : 6/18/2015<br>Cassandra L. Kniffin - updated : 12/17/2013<br>Cassandra L. Kniffin - updated : 10/18/2012<br>Nara Sobreira - updated : 3/22/2011<br>Ada Hamosh - updated : 10/27/2010<br>Cassandra L. Kniffin - updated : 9/16/2010
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<span class="mim-text-font">
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Patricia A. Hartz : 8/17/2010
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carol : 10/12/2022<br>mgross : 10/11/2022<br>carol : 06/13/2018<br>alopez : 12/12/2017<br>mgross : 10/06/2016<br>alopez : 08/12/2015<br>mcolton : 7/30/2015<br>mgross : 6/18/2015<br>mcolton : 6/18/2015<br>carol : 12/19/2013<br>mcolton : 12/18/2013<br>ckniffin : 12/17/2013<br>carol : 10/22/2012<br>ckniffin : 10/18/2012<br>wwang : 6/2/2011<br>terry : 3/25/2011<br>carol : 3/23/2011<br>carol : 3/23/2011<br>terry : 3/22/2011<br>terry : 12/10/2010<br>alopez : 10/27/2010<br>wwang : 9/17/2010<br>ckniffin : 9/16/2010<br>wwang : 8/17/2010
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