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Entry
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- *613446 - CENTROSOMAL PROTEIN, 120-KD; CEP120
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- OMIM
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<p>
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<span class="h4">*613446</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/613446">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div 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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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000168944;t=ENST00000306467" 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=153241" 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=613446" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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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=ENSG00000168944;t=ENST00000306467" 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_001166226,NM_001375405,NM_001375406,NM_001375407,NM_001375408,NM_001375409,NM_153223,NR_164685,XM_011543185,XM_017009085,XM_047416803" 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_001375405" 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=613446" 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 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="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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<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=08769&isoform_id=08769_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/CEP120" 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/21752271,21754949,50949556,50949809,50950037,96975038,119569258,119569259,119569260,194384754,205696377,261245061,767935399,1034643727,1769843692,1769843730,1769843751,1769843759,1769843772,2217354659,2462600835,2462600837,2462600839" 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/Q8N960" 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 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=153241" 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=ENSG00000168944;t=ENST00000306467" 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=CEP120" 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=CEP120" 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+153241" 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/CEP120" 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:153241" 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/153241" 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=chr5&hgg_gene=ENST00000306467.10&hgg_start=123344892&hgg_end=123423842&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 class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613446[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=613446[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000168944" 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=CEP120" 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=CEP120" 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=CEP120" 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=CEP120&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/PA164717857" 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:26690" 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:2147298" 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/CEP120#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:2147298" 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/153241/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=153241" 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-140106-268" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=CEP120&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>
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613446
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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, 120-KD; CEP120
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
COILED-COIL DOMAIN-CONTAINING PROTEIN 100; CCDC100
|
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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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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CEP120" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CEP120</a></em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/5/402?start=-3&limit=10&highlight=402">5q23.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:123344892-123423842&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'})">5:123,344,892-123,423,842</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
|
|
Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
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<a href="/clinicalSynopsis/table?mimNumber=617761,616300" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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</tr>
|
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="2">
|
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<span class="mim-font">
|
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<a href="/geneMap/5/402?start=-3&limit=10&highlight=402">
|
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5q23.2
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Joubert syndrome 31
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<a href="/entry/617761"> 617761 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
|
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
Short-rib thoracic dysplasia 13 with or without polydactyly
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/616300"> 616300 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
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</span>
|
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</td>
|
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/613446" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613446" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</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="text" class="mim-anchor"></a>
|
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<h4>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
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</h4>
|
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<p>Centrioles are conserved microtubule-based organelles that are essential for formation of centrosomes, cilia, and flagella. Centriole duplication involves growth of a procentriole orthogonal to a preexisting centriole. CEP120 is required for centriole elongation from a procentriole (summary by <a href="#4" class="mim-tip-reference" title="Lin, Y.-N., Wu, C.-T., Lin, Y.-C., Hsu, W.-B., Tang, C.-J. C., Chang, C.-W., Tang, T. K. <strong>CEP120 interacts with CPAP and positively regulates centriole elongation.</strong> J. Cell Biol. 202: 211-219, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23857771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23857771</a>] [<a href="https://doi.org/10.1083/jcb.201212060" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23857771">Lin et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23857771" 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="#8" class="mim-tip-reference" title="Xie, Z., Moy, L. Y., Sanada, K., Zhou, Y., Buchman, J. J., Tsai, L.-H. <strong>Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool.</strong> Neuron 56: 79-93, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17920017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17920017</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17920017[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.neuron.2007.08.026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17920017">Xie et al. (2007)</a> cloned mouse Cep120, and by database analysis, they identified human CEP120. The deduced mouse and human proteins contain 988 and 986 amino acids, respectively, and share 89% identity. Both have an N-terminal C2 calcium/lipid-binding domain and a C-terminal coiled-coil domain. RT-PCR detected Cep120 expression in all mouse tissues examined. Western blot analysis of mouse embryos also showed ubiquitous expression, with highest level in brain, followed by lung and kidney. Expression in adult brain was considerably lower than that in embryonic brain. Immunohistochemical analysis of embryonic mouse brain showed prominent Cep120 expression in pericentrin (PCNT1; <a href="/entry/170285">170285</a>)-positive puncta at the ventricular surface, with weaker labeling of pericentrin-positive puncta at other areas of the neocortex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17920017" 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 Western blot analysis of mouse and human cell lines, <a href="#5" class="mim-tip-reference" title="Mahjoub, M. R., Xie, Z., Stearns, T. <strong>Cep120 is asymmetrically localized to the daughter centriole and is essential for centriole assembly.</strong> J. Cell Biol. 191: 331-346, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20956381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20956381</a>] [<a href="https://doi.org/10.1083/jcb.201003009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20956381">Mahjoub et al. (2010)</a> detected CEP120 at an apparent molecular mass of approximately 120 kD. In mouse NIH3T3 fibroblasts and human RPE-1 cells, CEP120 associated with the daughter centriole. During mitosis, CEP120 expression peaked with formation of daughter centrioles. Transmission electron microscopy detected Cep120 along the length of the centriole barrel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20956381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 6/11/2010."None>Hartz (2010)</a> mapped the CEP120 gene to chromosome 5q23.2 based on an alignment of the CEP120 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AK093409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AK093409</a>) with the genomic sequence (GRCh37).</p>
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<p>During neurogenesis, the nuclei of progenitor cells of the proliferative ventricular zone oscillate in a cell cycle-dependent manner called interkinetic nuclear migration (INM). In most cell types, the nucleus closely follows the centrosome during migration; however, in neural progenitors, centrosomes remain near the ventricular zone during INM. <a href="#8" class="mim-tip-reference" title="Xie, Z., Moy, L. Y., Sanada, K., Zhou, Y., Buchman, J. J., Tsai, L.-H. <strong>Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool.</strong> Neuron 56: 79-93, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17920017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17920017</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17920017[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.neuron.2007.08.026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17920017">Xie et al. (2007)</a> showed that INM in mice was dependent on the regulation of centrosome-associated microtubules by Cep120 and Taccs (see TACC1; <a href="/entry/605301">605301</a>). Cep120 and Taccs regulated the integrity of microtubules coupling the centrosome and the nucleus. Cep120 interacted with Taccs and regulated the localization of Tacc3 (<a href="/entry/605303">605303</a>) to the centrosome. Both Cep120 and Taccs were essential for maintaining the neural progenitor pool during mouse neocortical development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17920017" 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 gene tagging on BACs, protein localization, and tandem-affinity purification-mass spectrometry, <a href="#3" class="mim-tip-reference" title="Hutchins, J. R. A., Toyoda, Y., Hegemann, B., Poser, I., Heriche, J.-K., Sykora, M. M., Augsburg, M., Hudecz, O., Buschhorn, B. A., Bulkescher, J., Conrad, C., Comartin, D., and 18 others. <strong>Systematic analysis of human protein complexes identifies chromosome segregation proteins.</strong> Science 328: 593-599, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20360068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20360068</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20360068[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1181348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20360068">Hutchins et al. (2010)</a> showed that CEP120 clustered with proteins required for centriole duplication. RNA interference experiments confirmed that CEP120 was required for centriole duplication. CEP120 also interacted with CCDC52 (SPICE1; <a href="/entry/613447">613447</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20360068" 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>Mouse tracheal epithelial cells (MTECs) develop cilia when cultured at an air-liquid interface. <a href="#5" class="mim-tip-reference" title="Mahjoub, M. R., Xie, Z., Stearns, T. <strong>Cep120 is asymmetrically localized to the daughter centriole and is essential for centriole assembly.</strong> J. Cell Biol. 191: 331-346, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20956381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20956381</a>] [<a href="https://doi.org/10.1083/jcb.201003009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20956381">Mahjoub et al. (2010)</a> found that Cep120 expression peaked with centriole amplification prior to ciliogenesis in MTECs. Deletion analysis revealed that the C-terminal coiled-coil domain of Cep120 was required for centriole localization. Knockdown of Cep120 in mouse embryonic fibroblasts via short hairpin RNA had no effect on cell cycle progression or cell division, but it interfered with centriole duplication. In MTECs, knockdown of Cep120 caused failure to assemble centrioles and cilia. Formation of a daughter centriole was a prerequisite for reduction in Cep120 content and acquisition of appendages by mother centrioles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20956381" 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 immunoprecipitation analysis and protein pull-down assays, <a href="#4" class="mim-tip-reference" title="Lin, Y.-N., Wu, C.-T., Lin, Y.-C., Hsu, W.-B., Tang, C.-J. C., Chang, C.-W., Tang, T. K. <strong>CEP120 interacts with CPAP and positively regulates centriole elongation.</strong> J. Cell Biol. 202: 211-219, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23857771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23857771</a>] [<a href="https://doi.org/10.1083/jcb.201212060" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23857771">Lin et al. (2013)</a> found that CEP120 interacted with CPAP (CENPJ; <a href="/entry/609279">609279</a>) in human cell lines. Overexpression of either protein caused formation of supernumerary centrioles and extra long and abnormally branched microtubule-based filaments that extended from elongated centrioles. Depletion of CEP120 or CPAP in U2OS cells reduced centriolar targeting of the other protein. Deletion analysis of CEP120 identified an N-terminal microtubule-binding domain, a central CPAP-interacting domain, and a C-terminal dimerization domain that overlapped the centriole-localization domain within the coiled-coil region. The microtubule-binding region of CEP120 was essential for its centriole-elongating activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23857771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Comartin, D., Gupta, G. D., Fussner, E., Coyaud, E., Hasegan, M., Archinti, M., Cheung, S. W. T., Pinchev, D., Lawo, S., Raught, B., Bazett-Jones, D. P., Luders, J., Pelletier, L. <strong>CEP120 and SPICE1 cooperate with CPAP in centriole elongation.</strong> Curr. Biol. 23: 1360-1366, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23810536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23810536</a>] [<a href="https://doi.org/10.1016/j.cub.2013.06.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23810536">Comartin et al. (2013)</a> found that CEP120 interacted with both SPICE1 and CPAP, and that all 3 proteins were required for centriole elongation and for recruitment of distal microtubule-capping proteins and CEP135 (<a href="/entry/611423">611423</a>) to procentrioles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23810536" 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>Short-Rib Thoracic Dysplasia 13</em></strong></p><p>
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In 4 unrelated infants with short-rib thoracic dysplasia and polydactyly (SRTD13; <a href="/entry/616300">616300</a>), who all died within the first week of life due to respiratory insufficiency, <a href="#7" class="mim-tip-reference" title="Shaheen, R., Schmidts, M., Faqeih, E., Hashem, A., Lausch, E., Holder, I., Superti-Furga, A., UK10K Consortium, Mitchison, H. M., Almoisheer, A., Alamro, R., Alshiddi, T., Alzahrani, F., Beales, P. L., Alkuraya, F. S. <strong>A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.</strong> Hum. Molec. Genet. 24: 1410-1419, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25361962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25361962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25361962[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddu555" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25361962">Shaheen et al. (2015)</a> identified homozygosity for a missense mutation in the CEP120 gene (A199P; <a href="#0001">613446.0001</a>). Patient fibroblasts showed marked reduction of cilia and an abnormal number of centrioles compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25361962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a male fetus of Flemish origin (SW-476410) exhibiting SRTD without polydactyly and with neurologic features including the molar tooth sign, <a href="#6" class="mim-tip-reference" title="Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., De Keersmaeker, B., and 12 others. <strong>Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.</strong> J. Med. Genet. 53: 608-615, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27208211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27208211</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-103832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27208211">Roosing et al. (2016)</a> identified compound heterozygosity for the previously reported A199P mutation and a nonsense mutation in the CEP120 gene (R151X; <a href="#0002">613446.0002</a>). In another male fetus of Turkish origin (MKS-2930) showing SRTD with polydactyly, <a href="#6" class="mim-tip-reference" title="Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., De Keersmaeker, B., and 12 others. <strong>Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.</strong> J. Med. Genet. 53: 608-615, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27208211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27208211</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-103832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27208211">Roosing et al. (2016)</a> identified homozygosity for a missense mutation in CEP120 (I949S; <a href="#0003">613446.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27208211" 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>Joubert Syndrome 31</em></strong></p><p>
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In 4 patients with Joubert syndrome (JBTS31; <a href="/entry/617761">617761</a>), with ages ranging from 2 to 11 years, <a href="#6" class="mim-tip-reference" title="Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., De Keersmaeker, B., and 12 others. <strong>Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.</strong> J. Med. Genet. 53: 608-615, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27208211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27208211</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-103832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27208211">Roosing et al. (2016)</a> identified homozygous or compound heterozygous mutations in the CEP120 gene (see, e.g., <a href="#0004">613446.0004</a>-<a href="#0008">613446.0008</a>). Noting that all 4 patients had a relatively mild, purely neurologic phenotype, whereas other patients with mutations in CEP120 exhibit a more complex and severe phenotype, <a href="#6" class="mim-tip-reference" title="Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., De Keersmaeker, B., and 12 others. <strong>Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.</strong> J. Med. Genet. 53: 608-615, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27208211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27208211</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-103832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27208211">Roosing et al. (2016)</a> stated that the mechanism through which mutations in the same gene cause such wide phenotypic variability remained unexplained. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27208211" 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="#7" class="mim-tip-reference" title="Shaheen, R., Schmidts, M., Faqeih, E., Hashem, A., Lausch, E., Holder, I., Superti-Furga, A., UK10K Consortium, Mitchison, H. M., Almoisheer, A., Alamro, R., Alshiddi, T., Alzahrani, F., Beales, P. L., Alkuraya, F. S. <strong>A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.</strong> Hum. Molec. Genet. 24: 1410-1419, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25361962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25361962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25361962[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddu555" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25361962">Shaheen et al. (2015)</a> performed knockdown of the zebrafish CEP120 analog and observed a typical ciliopathy phenotype with ventrally curved body axis, hydrocephalus, otolith defects, cardiac edema, and smaller eyes at 3 days postfertilization (dpf) compared to controls. Embryos that survived to 4 dpf developed pronephric duct dilatation, glomerular cysts, and severe general edema. Alcian-Blue staining revealed striking craniofacial defects, with most of the craniofacial cartilage missing. Immunofluorescence imaging using confocal microscopy showed disorganized cilia in the pronephric duct and shorter cilia in the neural tube, but no significant reduction in the number of cilia was observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25361962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 4 unrelated infants, including 2 of Saudi Arabian origin and 1 of Swiss ancestry, who had short-rib thoracic dysplasia-13 with or without polydactyly (SRTD13; <a href="/entry/616300">616300</a>), <a href="#7" class="mim-tip-reference" title="Shaheen, R., Schmidts, M., Faqeih, E., Hashem, A., Lausch, E., Holder, I., Superti-Furga, A., UK10K Consortium, Mitchison, H. M., Almoisheer, A., Alamro, R., Alshiddi, T., Alzahrani, F., Beales, P. L., Alkuraya, F. S. <strong>A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.</strong> Hum. Molec. Genet. 24: 1410-1419, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25361962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25361962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25361962[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddu555" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25361962">Shaheen et al. (2015)</a> identified homozygosity for a c.595G-C transversion (c.595G-C, NM_153223.3) in exon 6 of the CEP120 gene, resulting in an ala199-to-pro (A199P) substitution at a highly conserved residue within the MT-binding domain. The variant, which was present in heterozygous state in 1 of 1,294 Saudi alleles tested and in 2 of 12,000 alleles in the Exome Variant Server database, was not found in the 1000 Genomes Project database. Patient fibroblasts showed a dramatic reduction in the frequency of ciliated cells compared to controls: control fibroblast cells consistently showed a single centrosome after 24 hours of serum starvation to induce ciliogenesis, but approximately half of patient fibroblasts showed a variable number of centrosomes, ranging from 1 to more than 4. All 4 affected infants died of respiratory failure within the first week of life. Haplotype analysis of the 2 Saudi families and the Swiss family showed shared runs of homozygosity of 714,139 bp, indicating that the mutation originated from a common founder and was most likely very ancient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25361962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a male fetus of Flemish origin (SW-476410) exhibiting SRTD without polydactyly and also showing central nervous system malformations including suboccipital encephalocele, dysplastic tectum, enlarged posterior fossa, severe hypoplasia of the cerebellar vermis, and molar tooth sign on fetal MRI, <a href="#6" class="mim-tip-reference" title="Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., De Keersmaeker, B., and 12 others. <strong>Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.</strong> J. Med. Genet. 53: 608-615, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27208211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27208211</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-103832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27208211">Roosing et al. (2016)</a> identified compound heterozygosity for the A199P mutation and a c.451C-T transition in exon 5 of the CEP120 gene, resulting in an arg151-to-ter (R151X; <a href="#0002">613446.0002</a>) substitution within the C2 domain. The unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in a combined in-house database; in addition, the nonsense mutation was not found in the dbSNP, Exome Variant Server, or ExAC databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27208211" 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>For discussion of the c.451C-T transition (c.451C-T, NM_153223.3) in exon 5 of the CEP120 gene, resulting in an arg151-to-ter (R151X) substitution, that was found in compound heterozygous state in a male fetus of Flemish origin (SW-476410) with short-rib thoracic dysplasia without polydactyly (SRTD13; <a href="/entry/616300">616300</a>) by <a href="#6" class="mim-tip-reference" title="Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., De Keersmaeker, B., and 12 others. <strong>Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.</strong> J. Med. Genet. 53: 608-615, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27208211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27208211</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-103832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27208211">Roosing et al. (2016)</a>, see <a href="#0001">613446.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27208211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a male fetus of Turkish origin (MKS-2930) with short-rib thoracic dysplasia and preaxial and postaxial polydactyly (SRTD13; <a href="/entry/616300">616300</a>) as well as cystic dysplastic kidneys and central nervous system malformations including occipital encephalocele and enlarged posterior fossa, <a href="#6" class="mim-tip-reference" title="Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., De Keersmaeker, B., and 12 others. <strong>Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.</strong> J. Med. Genet. 53: 608-615, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27208211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27208211</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-103832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27208211">Roosing et al. (2016)</a> identified homozygosity for a c.2924T-G transversion (c.2924T-G, NM_153223.3) in exon 21 of the CEP120 gene, resulting in an ile949-to-ser (I949S) substitution at a highly conserved residue within the coiled-coil domain. The mutation was present in heterozygosity in the unaffected consanguineous parents, but was not found in a combined in-house database or in the dbSNP, Exome Variant Server, or ExAC databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27208211" 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">rs1554104276 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554104276;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=rs1554104276" 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=rs1554104276" 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=RCV000515139" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000515139" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000515139</a>
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<p>In a 4.5-year-old Italian girl (COR391) with Joubert syndrome (JBTS31; <a href="/entry/617761">617761</a>), <a href="#6" class="mim-tip-reference" title="Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., De Keersmaeker, B., and 12 others. <strong>Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.</strong> J. Med. Genet. 53: 608-615, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27208211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27208211</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-103832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27208211">Roosing et al. (2016)</a> identified homozygosity for a c.581T-C transition (c.581T-C, NM_153223.3) in exon 6 of the CEP120 gene, resulting in a val194-to-ala (V194A) substitution at a highly conserved residue. The mutation was present in heterozygosity in her unaffected consanguineous parents, but was not found in a combined in-house database or in the dbSNP, Exome Variant Server, or ExAC databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27208211" 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 JOUBERT SYNDROME 31</strong>
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CEP120, LEU712PHE (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs114280473;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs114280473</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs114280473 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs114280473;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/rs114280473?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=rs114280473" 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=rs114280473" 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=RCV000515147 OR RCV000557671 OR RCV001537304 OR RCV003925532" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000515147, RCV000557671, RCV001537304, RCV003925532" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000515147...</a>
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<p>In an 11-year-old boy from the United States (MTI-143) with Joubert syndrome (JBTS31; <a href="/entry/617761">617761</a>), <a href="#6" class="mim-tip-reference" title="Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., De Keersmaeker, B., and 12 others. <strong>Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.</strong> J. Med. Genet. 53: 608-615, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27208211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27208211</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-103832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27208211">Roosing et al. (2016)</a> identified compound heterozygosity for 2 missense mutations in the CEP120 gene: a c.2134C-T transition (c.2134C-T, NM_153223.3), resulting in a leu712-to-phe (L712F) substitution, and a c.2177T-C transition, resulting in a leu726-to-pro (L726P; <a href="#0006">613446.0006</a>) substitution. Both mutations occurred in exon 16 and involved highly conserved residues. The mutations segregated fully with disease in the family, and neither was found in a combined in-house database. The L726P mutation was not found in the dbSNP, Exome Variant Server (EVS), or ExAC databases, whereas the L712F variant was present in dbSNP (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs114280473;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs114280473</a>) as well as in the EVS and ExAC databases at very low frequency, but never in homozygous state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27208211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 JOUBERT SYNDROME 31</strong>
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CEP120, LEU726PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1554102026 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554102026;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=rs1554102026" 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=rs1554102026" 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=RCV000515151" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000515151" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000515151</a>
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<p>For discussion of the c.2177T-C transition (c.2177T-C, NM_153223.3) in exon 16 of the CEP120 gene, resulting in a leu726-to-pro (L726P) substitution, that was found in compound heterozygous state in an 11-year-old boy from the United States (MTI-143) with Joubert syndrome (JBTS31; <a href="/entry/617761">617761</a>) by <a href="#6" class="mim-tip-reference" title="Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., De Keersmaeker, B., and 12 others. <strong>Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.</strong> J. Med. Genet. 53: 608-615, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27208211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27208211</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-103832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27208211">Roosing et al. (2016)</a>, see <a href="#0005">613446.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27208211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<strong>.0007 JOUBERT SYNDROME 31</strong>
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CEP120, 1-BP INS, 1138A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1554103267 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554103267;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=rs1554103267" 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=rs1554103267" 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=RCV000515141" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000515141" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000515141</a>
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<p>In a 2-year-old Indian girl (MTI-1516) with Joubert syndrome (JBTS31; <a href="/entry/617761">617761</a>), <a href="#6" class="mim-tip-reference" title="Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., De Keersmaeker, B., and 12 others. <strong>Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.</strong> J. Med. Genet. 53: 608-615, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27208211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27208211</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-103832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27208211">Roosing et al. (2016)</a> identified compound heterozygosity for 2 mutations in the CEP120 gene: a 1-bp insertion (c.1138_1139insA, NM_153223.3) in exon 9, causing a frameshift predicted to result in a premature termination codon (Ser380ThrfsTer19), and a c.1646C-T transition in exon 12, resulting in an ala549-to-val (A549V; <a href="#0008">613446.0008</a>) substitution at a highly conserved residue. Her unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in a combined in-house database or in the dbSNP, Exome Variant Server, or ExAC databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27208211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0008" class="mim-anchor"></a>
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<strong>.0008 JOUBERT SYNDROME 31</strong>
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CEP120, ALA549VAL
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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> rs775080726 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs775080726;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/rs775080726?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=rs775080726" 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=rs775080726" 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=RCV000515145 OR RCV001268429 OR RCV005091175" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000515145, RCV001268429, RCV005091175" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000515145...</a>
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<p>For discussion of the c.1646C-T transition (c.1646C-T, NM_153223.3) in exon 12 of the CEP120 gene, resulting in an ala549-to-val (A549V) substitution, that was found in compound heterozygous state in 2-year-old Indian girl (MTI-1516) with Joubert syndrome (JBTS31; <a href="/entry/617761">617761</a>) by <a href="#6" class="mim-tip-reference" title="Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., De Keersmaeker, B., and 12 others. <strong>Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.</strong> J. Med. Genet. 53: 608-615, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27208211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27208211</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-103832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27208211">Roosing et al. (2016)</a>, see <a href="#0007">613446.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27208211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Comartin, D., Gupta, G. D., Fussner, E., Coyaud, E., Hasegan, M., Archinti, M., Cheung, S. W. T., Pinchev, D., Lawo, S., Raught, B., Bazett-Jones, D. P., Luders, J., Pelletier, L.
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<strong>CEP120 and SPICE1 cooperate with CPAP in centriole elongation.</strong>
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Curr. Biol. 23: 1360-1366, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23810536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23810536</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23810536" 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.2013.06.002" target="_blank">Full Text</a>]
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<a id="Hartz2010" class="mim-anchor"></a>
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<p class="mim-text-font">
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 6/11/2010.
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<a id="Hutchins2010" class="mim-anchor"></a>
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<p class="mim-text-font">
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Hutchins, J. R. A., Toyoda, Y., Hegemann, B., Poser, I., Heriche, J.-K., Sykora, M. M., Augsburg, M., Hudecz, O., Buschhorn, B. A., Bulkescher, J., Conrad, C., Comartin, D., and 18 others.
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<strong>Systematic analysis of human protein complexes identifies chromosome segregation proteins.</strong>
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Science 328: 593-599, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20360068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20360068</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20360068[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=20360068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1181348" target="_blank">Full Text</a>]
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<a id="Lin2013" class="mim-anchor"></a>
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<p class="mim-text-font">
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Lin, Y.-N., Wu, C.-T., Lin, Y.-C., Hsu, W.-B., Tang, C.-J. C., Chang, C.-W., Tang, T. K.
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<strong>CEP120 interacts with CPAP and positively regulates centriole elongation.</strong>
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J. Cell Biol. 202: 211-219, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23857771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23857771</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23857771" 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/10.1083/jcb.201212060" target="_blank">Full Text</a>]
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<a id="Mahjoub2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mahjoub, M. R., Xie, Z., Stearns, T.
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<strong>Cep120 is asymmetrically localized to the daughter centriole and is essential for centriole assembly.</strong>
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J. Cell Biol. 191: 331-346, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20956381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20956381</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20956381" 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/10.1083/jcb.201003009" target="_blank">Full Text</a>]
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<a id="Roosing2016" class="mim-anchor"></a>
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Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., De Keersmaeker, B., and 12 others.
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<strong>Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.</strong>
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J. Med. Genet. 53: 608-615, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27208211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27208211</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27208211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2016-103832" target="_blank">Full Text</a>]
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<a id="Shaheen2015" class="mim-anchor"></a>
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<p class="mim-text-font">
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Shaheen, R., Schmidts, M., Faqeih, E., Hashem, A., Lausch, E., Holder, I., Superti-Furga, A., UK10K Consortium, Mitchison, H. M., Almoisheer, A., Alamro, R., Alshiddi, T., Alzahrani, F., Beales, P. L., Alkuraya, F. S.
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<strong>A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.</strong>
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Hum. Molec. Genet. 24: 1410-1419, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25361962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25361962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25361962[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=25361962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddu555" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Xie2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Xie, Z., Moy, L. Y., Sanada, K., Zhou, Y., Buchman, J. J., Tsai, L.-H.
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<strong>Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool.</strong>
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Neuron 56: 79-93, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17920017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17920017</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17920017[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=17920017" 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.neuron.2007.08.026" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 02/09/2018
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 11/06/2017<br>Marla J. F. O'Neill - updated : 4/9/2015
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Creation Date:
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Patricia A. Hartz : 6/15/2010
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mgross : 02/09/2018
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<span class="mim-text-font">
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mgross : 02/09/2018<br>carol : 11/06/2017<br>alopez : 04/09/2015<br>mcolton : 4/9/2015<br>mgross : 6/16/2010<br>mgross : 6/16/2010
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<span class="mim-font">
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<strong>*</strong> 613446
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<h3>
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CENTROSOMAL PROTEIN, 120-KD; CEP120
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<em>Alternative titles; symbols</em>
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COILED-COIL DOMAIN-CONTAINING PROTEIN 100; CCDC100
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CEP120</em></strong>
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Cytogenetic location: 5q23.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 5:123,344,892-123,423,842 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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5q23.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Joubert syndrome 31
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</span>
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</td>
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<td>
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<span class="mim-font">
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617761
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Short-rib thoracic dysplasia 13 with or without polydactyly
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</span>
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</td>
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<td>
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<span class="mim-font">
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616300
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Centrioles are conserved microtubule-based organelles that are essential for formation of centrosomes, cilia, and flagella. Centriole duplication involves growth of a procentriole orthogonal to a preexisting centriole. CEP120 is required for centriole elongation from a procentriole (summary by Lin et al., 2013). </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>Xie et al. (2007) cloned mouse Cep120, and by database analysis, they identified human CEP120. The deduced mouse and human proteins contain 988 and 986 amino acids, respectively, and share 89% identity. Both have an N-terminal C2 calcium/lipid-binding domain and a C-terminal coiled-coil domain. RT-PCR detected Cep120 expression in all mouse tissues examined. Western blot analysis of mouse embryos also showed ubiquitous expression, with highest level in brain, followed by lung and kidney. Expression in adult brain was considerably lower than that in embryonic brain. Immunohistochemical analysis of embryonic mouse brain showed prominent Cep120 expression in pericentrin (PCNT1; 170285)-positive puncta at the ventricular surface, with weaker labeling of pericentrin-positive puncta at other areas of the neocortex. </p><p>By Western blot analysis of mouse and human cell lines, Mahjoub et al. (2010) detected CEP120 at an apparent molecular mass of approximately 120 kD. In mouse NIH3T3 fibroblasts and human RPE-1 cells, CEP120 associated with the daughter centriole. During mitosis, CEP120 expression peaked with formation of daughter centrioles. Transmission electron microscopy detected Cep120 along the length of the centriole barrel. </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>Hartz (2010) mapped the CEP120 gene to chromosome 5q23.2 based on an alignment of the CEP120 sequence (GenBank AK093409) with the genomic sequence (GRCh37).</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>During neurogenesis, the nuclei of progenitor cells of the proliferative ventricular zone oscillate in a cell cycle-dependent manner called interkinetic nuclear migration (INM). In most cell types, the nucleus closely follows the centrosome during migration; however, in neural progenitors, centrosomes remain near the ventricular zone during INM. Xie et al. (2007) showed that INM in mice was dependent on the regulation of centrosome-associated microtubules by Cep120 and Taccs (see TACC1; 605301). Cep120 and Taccs regulated the integrity of microtubules coupling the centrosome and the nucleus. Cep120 interacted with Taccs and regulated the localization of Tacc3 (605303) to the centrosome. Both Cep120 and Taccs were essential for maintaining the neural progenitor pool during mouse neocortical development. </p><p>Using gene tagging on BACs, protein localization, and tandem-affinity purification-mass spectrometry, Hutchins et al. (2010) showed that CEP120 clustered with proteins required for centriole duplication. RNA interference experiments confirmed that CEP120 was required for centriole duplication. CEP120 also interacted with CCDC52 (SPICE1; 613447). </p><p>Mouse tracheal epithelial cells (MTECs) develop cilia when cultured at an air-liquid interface. Mahjoub et al. (2010) found that Cep120 expression peaked with centriole amplification prior to ciliogenesis in MTECs. Deletion analysis revealed that the C-terminal coiled-coil domain of Cep120 was required for centriole localization. Knockdown of Cep120 in mouse embryonic fibroblasts via short hairpin RNA had no effect on cell cycle progression or cell division, but it interfered with centriole duplication. In MTECs, knockdown of Cep120 caused failure to assemble centrioles and cilia. Formation of a daughter centriole was a prerequisite for reduction in Cep120 content and acquisition of appendages by mother centrioles. </p><p>Using immunoprecipitation analysis and protein pull-down assays, Lin et al. (2013) found that CEP120 interacted with CPAP (CENPJ; 609279) in human cell lines. Overexpression of either protein caused formation of supernumerary centrioles and extra long and abnormally branched microtubule-based filaments that extended from elongated centrioles. Depletion of CEP120 or CPAP in U2OS cells reduced centriolar targeting of the other protein. Deletion analysis of CEP120 identified an N-terminal microtubule-binding domain, a central CPAP-interacting domain, and a C-terminal dimerization domain that overlapped the centriole-localization domain within the coiled-coil region. The microtubule-binding region of CEP120 was essential for its centriole-elongating activity. </p><p>Comartin et al. (2013) found that CEP120 interacted with both SPICE1 and CPAP, and that all 3 proteins were required for centriole elongation and for recruitment of distal microtubule-capping proteins and CEP135 (611423) to procentrioles. </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>Short-Rib Thoracic Dysplasia 13</em></strong></p><p>
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|
In 4 unrelated infants with short-rib thoracic dysplasia and polydactyly (SRTD13; 616300), who all died within the first week of life due to respiratory insufficiency, Shaheen et al. (2015) identified homozygosity for a missense mutation in the CEP120 gene (A199P; 613446.0001). Patient fibroblasts showed marked reduction of cilia and an abnormal number of centrioles compared to controls. </p><p>In a male fetus of Flemish origin (SW-476410) exhibiting SRTD without polydactyly and with neurologic features including the molar tooth sign, Roosing et al. (2016) identified compound heterozygosity for the previously reported A199P mutation and a nonsense mutation in the CEP120 gene (R151X; 613446.0002). In another male fetus of Turkish origin (MKS-2930) showing SRTD with polydactyly, Roosing et al. (2016) identified homozygosity for a missense mutation in CEP120 (I949S; 613446.0003). </p><p><strong><em>Joubert Syndrome 31</em></strong></p><p>
|
|
In 4 patients with Joubert syndrome (JBTS31; 617761), with ages ranging from 2 to 11 years, Roosing et al. (2016) identified homozygous or compound heterozygous mutations in the CEP120 gene (see, e.g., 613446.0004-613446.0008). Noting that all 4 patients had a relatively mild, purely neurologic phenotype, whereas other patients with mutations in CEP120 exhibit a more complex and severe phenotype, Roosing et al. (2016) stated that the mechanism through which mutations in the same gene cause such wide phenotypic variability remained unexplained. </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">
|
|
<strong>Animal Model</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>Shaheen et al. (2015) performed knockdown of the zebrafish CEP120 analog and observed a typical ciliopathy phenotype with ventrally curved body axis, hydrocephalus, otolith defects, cardiac edema, and smaller eyes at 3 days postfertilization (dpf) compared to controls. Embryos that survived to 4 dpf developed pronephric duct dilatation, glomerular cysts, and severe general edema. Alcian-Blue staining revealed striking craniofacial defects, with most of the craniofacial cartilage missing. Immunofluorescence imaging using confocal microscopy showed disorganized cilia in the pronephric duct and shorter cilia in the neural tube, but no significant reduction in the number of cilia was observed. </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">
|
|
<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
|
<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>
|
|
<span class="mim-font">
|
|
<strong>.0001 SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY</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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CEP120, ALA199PRO ({dbSNP rs367600930})
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<br />
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SNP: rs367600930,
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gnomAD: rs367600930,
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ClinVar: RCV000169771
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 unrelated infants, including 2 of Saudi Arabian origin and 1 of Swiss ancestry, who had short-rib thoracic dysplasia-13 with or without polydactyly (SRTD13; 616300), Shaheen et al. (2015) identified homozygosity for a c.595G-C transversion (c.595G-C, NM_153223.3) in exon 6 of the CEP120 gene, resulting in an ala199-to-pro (A199P) substitution at a highly conserved residue within the MT-binding domain. The variant, which was present in heterozygous state in 1 of 1,294 Saudi alleles tested and in 2 of 12,000 alleles in the Exome Variant Server database, was not found in the 1000 Genomes Project database. Patient fibroblasts showed a dramatic reduction in the frequency of ciliated cells compared to controls: control fibroblast cells consistently showed a single centrosome after 24 hours of serum starvation to induce ciliogenesis, but approximately half of patient fibroblasts showed a variable number of centrosomes, ranging from 1 to more than 4. All 4 affected infants died of respiratory failure within the first week of life. Haplotype analysis of the 2 Saudi families and the Swiss family showed shared runs of homozygosity of 714,139 bp, indicating that the mutation originated from a common founder and was most likely very ancient. </p><p>In a male fetus of Flemish origin (SW-476410) exhibiting SRTD without polydactyly and also showing central nervous system malformations including suboccipital encephalocele, dysplastic tectum, enlarged posterior fossa, severe hypoplasia of the cerebellar vermis, and molar tooth sign on fetal MRI, Roosing et al. (2016) identified compound heterozygosity for the A199P mutation and a c.451C-T transition in exon 5 of the CEP120 gene, resulting in an arg151-to-ter (R151X; 613446.0002) substitution within the C2 domain. The unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in a combined in-house database; in addition, the nonsense mutation was not found in the dbSNP, Exome Variant Server, or ExAC databases. </p>
|
|
</span>
|
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 SHORT-RIB THORACIC DYSPLASIA 13 WITHOUT POLYDACTYLY</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
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|
CEP120, ARG151TER
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<br />
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SNP: rs757499322,
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gnomAD: rs757499322,
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ClinVar: RCV000515146, RCV004813107
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>For discussion of the c.451C-T transition (c.451C-T, NM_153223.3) in exon 5 of the CEP120 gene, resulting in an arg151-to-ter (R151X) substitution, that was found in compound heterozygous state in a male fetus of Flemish origin (SW-476410) with short-rib thoracic dysplasia without polydactyly (SRTD13; 616300) by Roosing et al. (2016), see 613446.0001. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 SHORT-RIB THORACIC DYSPLASIA 13 WITH POLYDACTYLY</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
CEP120, ILE949SER
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<br />
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|
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SNP: rs1554098663,
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|
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ClinVar: RCV000515150
|
|
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|
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</span>
|
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</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male fetus of Turkish origin (MKS-2930) with short-rib thoracic dysplasia and preaxial and postaxial polydactyly (SRTD13; 616300) as well as cystic dysplastic kidneys and central nervous system malformations including occipital encephalocele and enlarged posterior fossa, Roosing et al. (2016) identified homozygosity for a c.2924T-G transversion (c.2924T-G, NM_153223.3) in exon 21 of the CEP120 gene, resulting in an ile949-to-ser (I949S) substitution at a highly conserved residue within the coiled-coil domain. The mutation was present in heterozygosity in the unaffected consanguineous parents, but was not found in a combined in-house database or in the dbSNP, Exome Variant Server, or ExAC databases. </p>
|
|
</span>
|
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</div>
|
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 JOUBERT SYNDROME 31</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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CEP120, VAL194ALA
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<br />
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|
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SNP: rs1554104276,
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|
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|
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ClinVar: RCV000515139
|
|
|
|
|
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</span>
|
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</div>
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 4.5-year-old Italian girl (COR391) with Joubert syndrome (JBTS31; 617761), Roosing et al. (2016) identified homozygosity for a c.581T-C transition (c.581T-C, NM_153223.3) in exon 6 of the CEP120 gene, resulting in a val194-to-ala (V194A) substitution at a highly conserved residue. The mutation was present in heterozygosity in her unaffected consanguineous parents, but was not found in a combined in-house database or in the dbSNP, Exome Variant Server, or ExAC databases. </p>
|
|
</span>
|
|
</div>
|
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|
|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 JOUBERT SYNDROME 31</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">
|
|
|
|
CEP120, LEU712PHE ({dbSNP rs114280473})
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<br />
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SNP: rs114280473,
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gnomAD: rs114280473,
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ClinVar: RCV000515147, RCV000557671, RCV001537304, RCV003925532
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 11-year-old boy from the United States (MTI-143) with Joubert syndrome (JBTS31; 617761), Roosing et al. (2016) identified compound heterozygosity for 2 missense mutations in the CEP120 gene: a c.2134C-T transition (c.2134C-T, NM_153223.3), resulting in a leu712-to-phe (L712F) substitution, and a c.2177T-C transition, resulting in a leu726-to-pro (L726P; 613446.0006) substitution. Both mutations occurred in exon 16 and involved highly conserved residues. The mutations segregated fully with disease in the family, and neither was found in a combined in-house database. The L726P mutation was not found in the dbSNP, Exome Variant Server (EVS), or ExAC databases, whereas the L712F variant was present in dbSNP (rs114280473) as well as in the EVS and ExAC databases at very low frequency, but never in homozygous state. </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>.0006 JOUBERT SYNDROME 31</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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CEP120, LEU726PRO
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<br />
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|
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SNP: rs1554102026,
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ClinVar: RCV000515151
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>For discussion of the c.2177T-C transition (c.2177T-C, NM_153223.3) in exon 16 of the CEP120 gene, resulting in a leu726-to-pro (L726P) substitution, that was found in compound heterozygous state in an 11-year-old boy from the United States (MTI-143) with Joubert syndrome (JBTS31; 617761) by Roosing et al. (2016), see 613446.0005. </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>.0007 JOUBERT SYNDROME 31</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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CEP120, 1-BP INS, 1138A
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<br />
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SNP: rs1554103267,
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ClinVar: RCV000515141
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</span>
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</div>
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<p>In a 2-year-old Indian girl (MTI-1516) with Joubert syndrome (JBTS31; 617761), Roosing et al. (2016) identified compound heterozygosity for 2 mutations in the CEP120 gene: a 1-bp insertion (c.1138_1139insA, NM_153223.3) in exon 9, causing a frameshift predicted to result in a premature termination codon (Ser380ThrfsTer19), and a c.1646C-T transition in exon 12, resulting in an ala549-to-val (A549V; 613446.0008) substitution at a highly conserved residue. Her unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in a combined in-house database or in the dbSNP, Exome Variant Server, or ExAC databases. </p>
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<span class="mim-font">
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<strong>.0008 JOUBERT SYNDROME 31</strong>
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<span class="mim-text-font">
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CEP120, ALA549VAL
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<br />
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SNP: rs775080726,
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gnomAD: rs775080726,
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ClinVar: RCV000515145, RCV001268429, RCV005091175
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<p>For discussion of the c.1646C-T transition (c.1646C-T, NM_153223.3) in exon 12 of the CEP120 gene, resulting in an ala549-to-val (A549V) substitution, that was found in compound heterozygous state in 2-year-old Indian girl (MTI-1516) with Joubert syndrome (JBTS31; 617761) by Roosing et al. (2016), see 613446.0007. </p>
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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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Comartin, D., Gupta, G. D., Fussner, E., Coyaud, E., Hasegan, M., Archinti, M., Cheung, S. W. T., Pinchev, D., Lawo, S., Raught, B., Bazett-Jones, D. P., Luders, J., Pelletier, L.
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<strong>CEP120 and SPICE1 cooperate with CPAP in centriole elongation.</strong>
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Curr. Biol. 23: 1360-1366, 2013.
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[PubMed: 23810536]
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[Full Text: https://doi.org/10.1016/j.cub.2013.06.002]
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</li>
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<li>
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<p class="mim-text-font">
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 6/11/2010.
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</p>
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</li>
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<li>
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Hutchins, J. R. A., Toyoda, Y., Hegemann, B., Poser, I., Heriche, J.-K., Sykora, M. M., Augsburg, M., Hudecz, O., Buschhorn, B. A., Bulkescher, J., Conrad, C., Comartin, D., and 18 others.
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<strong>Systematic analysis of human protein complexes identifies chromosome segregation proteins.</strong>
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Science 328: 593-599, 2010.
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[PubMed: 20360068]
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[Full Text: https://doi.org/10.1126/science.1181348]
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<p class="mim-text-font">
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Lin, Y.-N., Wu, C.-T., Lin, Y.-C., Hsu, W.-B., Tang, C.-J. C., Chang, C.-W., Tang, T. K.
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<strong>CEP120 interacts with CPAP and positively regulates centriole elongation.</strong>
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J. Cell Biol. 202: 211-219, 2013.
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[PubMed: 23857771]
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[Full Text: https://doi.org/10.1083/jcb.201212060]
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</p>
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<li>
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<p class="mim-text-font">
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Mahjoub, M. R., Xie, Z., Stearns, T.
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<strong>Cep120 is asymmetrically localized to the daughter centriole and is essential for centriole assembly.</strong>
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J. Cell Biol. 191: 331-346, 2010.
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[PubMed: 20956381]
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[Full Text: https://doi.org/10.1083/jcb.201003009]
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</li>
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<p class="mim-text-font">
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Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., De Keersmaeker, B., and 12 others.
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<strong>Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.</strong>
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J. Med. Genet. 53: 608-615, 2016.
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[PubMed: 27208211]
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[Full Text: https://doi.org/10.1136/jmedgenet-2016-103832]
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Shaheen, R., Schmidts, M., Faqeih, E., Hashem, A., Lausch, E., Holder, I., Superti-Furga, A., UK10K Consortium, Mitchison, H. M., Almoisheer, A., Alamro, R., Alshiddi, T., Alzahrani, F., Beales, P. L., Alkuraya, F. S.
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<strong>A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.</strong>
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Hum. Molec. Genet. 24: 1410-1419, 2015.
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[PubMed: 25361962]
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[Full Text: https://doi.org/10.1093/hmg/ddu555]
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Xie, Z., Moy, L. Y., Sanada, K., Zhou, Y., Buchman, J. J., Tsai, L.-H.
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<strong>Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool.</strong>
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Neuron 56: 79-93, 2007.
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[PubMed: 17920017]
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[Full Text: https://doi.org/10.1016/j.neuron.2007.08.026]
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Patricia A. Hartz - updated : 02/09/2018<br>Marla J. F. O'Neill - updated : 11/06/2017<br>Marla J. F. O'Neill - updated : 4/9/2015
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