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Entry
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- *612013 - COILED-COIL AND C2 DOMAINS-CONTAINING PROTEIN 2A; CC2D2A
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*612013</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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<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="#geneStructure">Gene Structure</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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<li role="presentation">
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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/612013">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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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="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000048342;t=ENST00000424120" 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=57545" 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=612013" 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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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000048342;t=ENST00000424120" 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_001080522,NM_001164720,NM_001378615,NM_001378617,NM_020785,XM_011513872,XM_011513874,XM_047416010" 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_001378615" 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=612013" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=11141&isoform_id=11141_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/CC2D2A" 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/7243071,10435947,74355506,119613140,186965957,197209974,229462975,257900481,257900483,444738001,767929864,767929868,1812655730,1812684012,2217351600,2462598382,2462598384,2462598386,2724854053" 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/Q9P2K1" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=57545" 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=ENSG00000048342;t=ENST00000424120" 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=CC2D2A" 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=CC2D2A" 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+57545" 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/CC2D2A" 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:57545" 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/57545" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr4&hgg_gene=ENST00000424120.6&hgg_start=15469865&hgg_end=15601557&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29253" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:29253" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=612013[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=612013[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/CC2D2A/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000048342" 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=CC2D2A" 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=CC2D2A" 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=CC2D2A" 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=CC2D2A&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/PA162381194" 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:29253" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0263113.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1924487" 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/CC2D2A#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:1924487" 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/57545/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=57545" 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://wormbase.org/db/gene/gene?name=WBGene00010642;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-2291" 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=CC2D2A&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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612013
|
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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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COILED-COIL AND C2 DOMAINS-CONTAINING PROTEIN 2A; CC2D2A
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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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
KIAA1345
|
|
</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>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CC2D2A" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CC2D2A</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/4/106?start=-3&limit=10&highlight=106">4p15.32</a>
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|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:15469865-15601557&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">4:15,469,865-15,601,557</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
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</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=619111,612285,612284,619845" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="4">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/4/106?start=-3&limit=10&highlight=106">
|
|
4p15.32
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
COACH syndrome 2
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/619111"> 619111 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
|
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</tr>
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|
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Joubert syndrome 9
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/612285"> 612285 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Meckel syndrome 6
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/612284"> 612284 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
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PheneGene Graphics <span class="caret"></span>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>CC2D2A is a component of a protein complex in the basal body, a ring-like structure that functions in the transition zone at the base of cilia. This complex acts as a barrier to restrict protein diffusion between plasma and ciliary membranes (<a href="#1" class="mim-tip-reference" title="Chih, B., Liu, P., Chinn, Y., Chalouni, C., Komuves, L. G., Hass, P. E., Sandoval, W., Peterson, A. S. <strong>A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.</strong> Nature Cell Biol. 14: 61-72, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22179047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22179047</a>] [<a href="https://doi.org/10.1038/ncb2410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22179047">Chih et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22179047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequencing clones obtained from a size-fractionated human fetal brain cDNA library, <a href="#7" class="mim-tip-reference" title="Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 7: 65-73, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10718198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10718198</a>] [<a href="https://doi.org/10.1093/dnares/7.1.65" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10718198">Nagase et al. (2000)</a> cloned CC2D2A, which they designated KIAA1345. The deduced protein contains 1,532 amino acids. RT-PCR detected moderate CC2D2A expression in ovary, lung, brain, liver, kidney, testis, and all specific adult brain regions examined. Low expression was detected in fetal brain and adult heart, and little to no expression was detected in fetal liver and adult skeletal muscle, pancreas, and spleen. In vitro-translated CC2D2A had an apparent molecular mass of more than 100 kD by SDS-PAGE. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10718198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By RT-PCR analysis of human tissues, <a href="#8" class="mim-tip-reference" title="Noor, A., Windpassinger, C., Patel, M., Stachowiak, B., Mikhailov, A., Azam, M., Irfan, M., Siddiqui, Z. K., Naeem, F., Paterson, A. D., Lutfullah, M., Vincent, J. B., Ayub, M. <strong>CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.</strong> Am. J. Hum. Genet. 82: 1011-1018, 2008. Note: Erratum: Am. J. Hum. Genet. 83: 656 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18387594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18387594</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18387594[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.01.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18387594">Noor et al. (2008)</a> detected strong CC2D2A expression in prostate, pancreas, kidney, lung, and liver with lower expression in spleen, small intestine, colon, skeletal muscle, ovary, thymus, and heart. CC2D2A contains 3 putative coiled-coil domains, a C-terminal C2 domain, and potential CaMKII recognition sites, PKC phosphorylation sites, and 2 putative nuclear localization signals. CC2D2A shares 84.8% amino acid identity with its rodent homologs. In COS-7 cells, overexpressed CC2D2A-GFP fusion protein localized almost exclusively to the cytoplasmic fraction, despite the predicted presence of potential nuclear localization signals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18387594" 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="#9" class="mim-tip-reference" title="Tallila, J., Jakkula, E., Peltonen, L., Salonen, R., Kestila, M. <strong>Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.</strong> Am. J. Hum. Genet. 82: 1361-1367, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18513680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18513680</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18513680[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18513680">Tallila et al. (2008)</a> determined that full-length CC2D2A encodes a 1,620-residue protein. The longer transcript was present in all normal fetal tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18513680" 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="Noor, A., Windpassinger, C., Patel, M., Stachowiak, B., Mikhailov, A., Azam, M., Irfan, M., Siddiqui, Z. K., Naeem, F., Paterson, A. D., Lutfullah, M., Vincent, J. B., Ayub, M. <strong>CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.</strong> Am. J. Hum. Genet. 82: 1011-1018, 2008. Note: Erratum: Am. J. Hum. Genet. 83: 656 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18387594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18387594</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18387594[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.01.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18387594">Noor et al. (2008)</a> determined that the CC2D2A gene contains 37 exons spanning 131.5 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18387594" 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="#9" class="mim-tip-reference" title="Tallila, J., Jakkula, E., Peltonen, L., Salonen, R., Kestila, M. <strong>Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.</strong> Am. J. Hum. Genet. 82: 1361-1367, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18513680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18513680</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18513680[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18513680">Tallila et al. (2008)</a> identified an additional exon in the CC2D2A gene located after exon 29, which brought the total number of exons to 38. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18513680" 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="Noor, A., Windpassinger, C., Patel, M., Stachowiak, B., Mikhailov, A., Azam, M., Irfan, M., Siddiqui, Z. K., Naeem, F., Paterson, A. D., Lutfullah, M., Vincent, J. B., Ayub, M. <strong>CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.</strong> Am. J. Hum. Genet. 82: 1011-1018, 2008. Note: Erratum: Am. J. Hum. Genet. 83: 656 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18387594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18387594</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18387594[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.01.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18387594">Noor et al. (2008)</a> stated that the CC2D2A gene maps to chromosome 4p15.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18387594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Gorden, N. T., Arts, H. H., Parisi, M. A., Coene, K. L. M., Letteboer, S. J. F., van Beersum, S. E. C., Mans, D. A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A. F., Ozyurek, H., and 23 others. <strong>CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.</strong> Am. J. Hum. Genet. 83: 559-571, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18950740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18950740</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18950740[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18950740">Gorden et al. (2008)</a> found that CC2D2A colocalized and interacted with CEP290 (<a href="/entry/610142">610142</a>) at the basal body in cultured ciliary cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18950740" 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="#10" class="mim-tip-reference" title="Williams, C. L., Li, C., Kida, K., Inglis, P. N., Mohan, S., Semenec, L., Bialas, N. J., Stupay, R. M., Chen, N., Blacque, O. E., Yoder, B. K., Leroux, M. R. <strong>MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.</strong> J. Cell. Biol. 192: 1023-1041, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21422230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21422230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21422230[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/10.1083/jcb.201012116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21422230">Williams et al. (2011)</a> showed that the conserved proteins Mks1 (<a href="/entry/609883">609883</a>), Mksr1 (B9D1), Mksr2 (B9D2; <a href="/entry/611951">611951</a>), Tmem67 (<a href="/entry/609884">609884</a>), Rpgrip1l (<a href="/entry/610937">610937</a>), Cc2d2a, Nphp1 (<a href="/entry/607100">607100</a>), and Nphp4 (<a href="/entry/607215">607215</a>) functioned at an early stage of ciliogenesis in C. elegans. These 8 proteins localized to the ciliary transition zone and established attachments between the basal body and transition zone membrane. They also provided a docking site that restricted vesicle fusion to vesicles containing ciliary proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21422230" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using tandem affinity purification and mass spectrometry to isolate proteins that purified with B9d1 (<a href="/entry/614144">614144</a>) in mouse IMCD3 cells and embryonic fibroblasts, <a href="#1" class="mim-tip-reference" title="Chih, B., Liu, P., Chinn, Y., Chalouni, C., Komuves, L. G., Hass, P. E., Sandoval, W., Peterson, A. S. <strong>A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.</strong> Nature Cell Biol. 14: 61-72, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22179047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22179047</a>] [<a href="https://doi.org/10.1038/ncb2410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22179047">Chih et al. (2012)</a> identified several components of the B9d1-containing ciliary complex, including Tmem231 (<a href="/entry/614949">614949</a>), Tmem17 (<a href="/entry/614950">614950</a>), B9d2 (<a href="/entry/611951">611951</a>), Tctn1 (<a href="/entry/609863">609863</a>), Tctn2 (<a href="/entry/613846">613846</a>), Mks1 (<a href="/entry/609883">609883</a>), Ahi1 (<a href="/entry/608894">608894</a>), Cc2d2a, and Kctd10 (<a href="/entry/613421">613421</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22179047" 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>Joubert Syndrome 9</em></strong></p><p>
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In a consanguineous Pakistani family with mental retardation and retinitis pigmentosa consistent with Joubert syndrome (JBTS9; <a href="/entry/612285">612285</a>) mapping to chromosome 4p15.33-p15.2, <a href="#8" class="mim-tip-reference" title="Noor, A., Windpassinger, C., Patel, M., Stachowiak, B., Mikhailov, A., Azam, M., Irfan, M., Siddiqui, Z. K., Naeem, F., Paterson, A. D., Lutfullah, M., Vincent, J. B., Ayub, M. <strong>CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.</strong> Am. J. Hum. Genet. 82: 1011-1018, 2008. Note: Erratum: Am. J. Hum. Genet. 83: 656 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18387594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18387594</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18387594[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.01.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18387594">Noor et al. (2008)</a> sequenced genes within an 11.2-Mb critical region and identified homozygosity for a splice site mutation in the CC2D2A gene (<a href="#0001">612013.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18387594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Gorden, N. T., Arts, H. H., Parisi, M. A., Coene, K. L. M., Letteboer, S. J. F., van Beersum, S. E. C., Mans, D. A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A. F., Ozyurek, H., and 23 others. <strong>CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.</strong> Am. J. Hum. Genet. 83: 559-571, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18950740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18950740</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18950740[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18950740">Gorden et al. (2008)</a> identified 6 different mutations in the CC2D2A gene (see, e.g., <a href="#0003">612013.0003</a>-<a href="#0005">612013.0005</a>) in 5 (9%) of 70 families with clinical features consistent with Joubert syndrome. There was a wide range of phenotypic features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18950740" 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>Meckel Syndrome 6</em></strong></p><p>
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In 11 unrelated Finnish fetuses with Meckel syndrome (MKS6; <a href="/entry/612284">612284</a>), <a href="#9" class="mim-tip-reference" title="Tallila, J., Jakkula, E., Peltonen, L., Salonen, R., Kestila, M. <strong>Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.</strong> Am. J. Hum. Genet. 82: 1361-1367, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18513680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18513680</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18513680[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18513680">Tallila et al. (2008)</a> identified a homozygous mutation in the CC2D2A gene (<a href="#0001">612013.0001</a>). All parents were heterozygous for the mutation. There were 6 fetuses with Meckel syndrome that did not have CC2D2A mutations. Analysis of 575 healthy controls indicated that the carrier frequency of the CC2D2A mutation was 0.5% in the Finnish population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18513680" 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>COACH Syndrome 2</em></strong></p><p>
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In a patient (UW49) with features of Joubert syndrome and hepatic fibrosis requiring liver transplantation at age 10 years (COACH2; <a href="/entry/619111">619111</a>), <a href="#4" class="mim-tip-reference" title="Gorden, N. T., Arts, H. H., Parisi, M. A., Coene, K. L. M., Letteboer, S. J. F., van Beersum, S. E. C., Mans, D. A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A. F., Ozyurek, H., and 23 others. <strong>CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.</strong> Am. J. Hum. Genet. 83: 559-571, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18950740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18950740</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18950740[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18950740">Gorden et al. (2008)</a> identified compound heterozygous mutations in the CC2D2A gene (<a href="#0004">612013.0004</a> and <a href="#0006">612013.0006</a>). <a href="#2" class="mim-tip-reference" title="Doherty, D., Parisi, M. A., Finn, L. S., Gunay-Aygun, M., Al-Mateen, M., Bates, D., Clericuzio, C., Demir, H., Dorschner, M., van Essen, A. J., Gahl, W. A., Gentile, M., and 11 others. <strong>Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).</strong> J. Med. Genet. 47: 8-21, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19574260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19574260</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19574260[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2009.067249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19574260">Doherty et al. (2010)</a> reported further on this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18950740+19574260" 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 3-year-old boy (UW67) with COACH2, defined as Joubert syndrome with liver disease, <a href="#2" class="mim-tip-reference" title="Doherty, D., Parisi, M. A., Finn, L. S., Gunay-Aygun, M., Al-Mateen, M., Bates, D., Clericuzio, C., Demir, H., Dorschner, M., van Essen, A. J., Gahl, W. A., Gentile, M., and 11 others. <strong>Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).</strong> J. Med. Genet. 47: 8-21, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19574260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19574260</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19574260[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2009.067249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19574260">Doherty et al. (2010)</a> identified compound heterozygosity for 2 mutations in the CC2D2A gene (<a href="#0007">612013.0007</a> and <a href="#0008">612013.0008</a>). The findings indicated that COACH syndrome can be considered a subtype of Joubert syndrome with liver involvement, as also noted by <a href="#4" class="mim-tip-reference" title="Gorden, N. T., Arts, H. H., Parisi, M. A., Coene, K. L. M., Letteboer, S. J. F., van Beersum, S. E. C., Mans, D. A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A. F., Ozyurek, H., and 23 others. <strong>CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.</strong> Am. J. Hum. Genet. 83: 559-571, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18950740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18950740</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18950740[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18950740">Gorden et al. (2008)</a>. The proposed ciliary function for CC2D2A supported a unifying underlying pathophysiology for liver disease in these disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18950740+19574260" 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>Retinitis Pigmentosa 93</em></strong></p><p>
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In 3 brothers of Senegalese ancestry with nonsyndromic retinitis pigmentosa (RP93; <a href="/entry/619845">619845</a>), <a href="#6" class="mim-tip-reference" title="Mejecase, C., Hummel, A., Mohand-Said, S., Andrieu, C., El Shamieh, S., Antonio, A., Condroyer, C., Boyard, F., Foussard, M., Blanchard, S., Letexier, M., Saraiva,, J.-P., Sahel, J.-A., Zeitz, C., Audo, I. <strong>Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.</strong> Clin. Genet. 95: 329-333, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30267408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30267408</a>] [<a href="https://doi.org/10.1111/cge.13453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30267408">Mejecase et al. (2019)</a> identified compound heterozygosity for a missense mutation (R925P; <a href="#0010">612013.0010</a>) and a deletion/insertion (<a href="#0011">612013.0011</a>) in the CC2D2A gene. Analysis of targeted next-generation sequencing data from 1,056 cases of nonsyndromic retinal dystrophy identified a 36-year-old woman from Central Africa who was compound heterozygous for the R925P mutation and a 16,145-bp deletion (<a href="#0012">612013.0012</a>) in the CC2D2A gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30267408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Gorden, N. T., Arts, H. H., Parisi, M. A., Coene, K. L. M., Letteboer, S. J. F., van Beersum, S. E. C., Mans, D. A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A. F., Ozyurek, H., and 23 others. <strong>CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.</strong> Am. J. Hum. Genet. 83: 559-571, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18950740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18950740</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18950740[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18950740">Gorden et al. (2008)</a> found that 33% of Cc2d2a-null zebrafish ('sentinel'; snl) developed pronephric cysts by 6 days postfertilization, compared to none of wildtype zebrafish. Some of the mutant fish also developed a pericardial effusion. However, there were no overt differences with respect to cilium number or morphology between mutant and wildtype zebrafish. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18950740" 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="#3" class="mim-tip-reference" title="Garcia-Gonzalo, F. R., Corbit, K. C., Sirerol-Piquer, M. S., Ramaswami, G., Otto, E. A., Noriega, T. R., Seol, A. D., Robinson, J. F., Bennett, C. L., Josifova, D. J., Garcia-Verdugo, J. M., Katsanis, N., Hildebrandt, F., Reiter, J. F. <strong>A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.</strong> Nature Genet. 43: 776-784, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21725307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21725307</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21725307[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21725307">Garcia-Gonzalo et al. (2011)</a> found that Cc2d2a-null mice embryos showed randomized left-right axes, holoprosencephaly, microphthalmia, and a variably expressive curved body axis. The embryos also had cilia defects, although embryonic fibroblasts could generate cilia, indicating tissue-specific ciliary functions. The findings were similar to those observed in Tctn1 (<a href="/entry/609863">609863</a>)-null and Tctn2 (<a href="/entry/613846">613846</a>)-null mice. <a href="#3" class="mim-tip-reference" title="Garcia-Gonzalo, F. R., Corbit, K. C., Sirerol-Piquer, M. S., Ramaswami, G., Otto, E. A., Noriega, T. R., Seol, A. D., Robinson, J. F., Bennett, C. L., Josifova, D. J., Garcia-Verdugo, J. M., Katsanis, N., Hildebrandt, F., Reiter, J. F. <strong>A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.</strong> Nature Genet. 43: 776-784, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21725307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21725307</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21725307[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21725307">Garcia-Gonzalo et al. (2011)</a> also demonstrated that Cc2d2a interacts with Tctn1 and Tctn2 and other proteins in a large complex localized to the transition zone between the ciliary axoneme and the basal body. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21725307" 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">rs2109050324 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2109050324;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=rs2109050324" 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=rs2109050324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a consanguineous Pakistani family with mental retardation and retinitis pigmentosa, <a href="#8" class="mim-tip-reference" title="Noor, A., Windpassinger, C., Patel, M., Stachowiak, B., Mikhailov, A., Azam, M., Irfan, M., Siddiqui, Z. K., Naeem, F., Paterson, A. D., Lutfullah, M., Vincent, J. B., Ayub, M. <strong>CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.</strong> Am. J. Hum. Genet. 82: 1011-1018, 2008. Note: Erratum: Am. J. Hum. Genet. 83: 656 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18387594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18387594</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18387594[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.01.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18387594">Noor et al. (2008)</a> identified homozygosity for a +1G-C transversion in intron 19 (IVS19DS+1G-C) of the CC2D2A gene, resulting in skipping of exon 19, a frameshift, and premature termination after amino acid 740, which abolishes the C2 domain. The mutation was not found in 460 Pakistani control chromosomes. <a href="#4" class="mim-tip-reference" title="Gorden, N. T., Arts, H. H., Parisi, M. A., Coene, K. L. M., Letteboer, S. J. F., van Beersum, S. E. C., Mans, D. A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A. F., Ozyurek, H., and 23 others. <strong>CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.</strong> Am. J. Hum. Genet. 83: 559-571, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18950740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18950740</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18950740[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18950740">Gorden et al. (2008)</a> reviewed the brain MRIs of the patients reported by <a href="#8" class="mim-tip-reference" title="Noor, A., Windpassinger, C., Patel, M., Stachowiak, B., Mikhailov, A., Azam, M., Irfan, M., Siddiqui, Z. K., Naeem, F., Paterson, A. D., Lutfullah, M., Vincent, J. B., Ayub, M. <strong>CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.</strong> Am. J. Hum. Genet. 82: 1011-1018, 2008. Note: Erratum: Am. J. Hum. Genet. 83: 656 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18387594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18387594</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18387594[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.01.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18387594">Noor et al. (2008)</a> and concluded that they both had Joubert syndrome (JBTS9; <a href="/entry/612285">612285</a>). In an erratum, <a href="#8" class="mim-tip-reference" title="Noor, A., Windpassinger, C., Patel, M., Stachowiak, B., Mikhailov, A., Azam, M., Irfan, M., Siddiqui, Z. K., Naeem, F., Paterson, A. D., Lutfullah, M., Vincent, J. B., Ayub, M. <strong>CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.</strong> Am. J. Hum. Genet. 82: 1011-1018, 2008. Note: Erratum: Am. J. Hum. Genet. 83: 656 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18387594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18387594</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18387594[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.01.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18387594">Noor et al. (2008)</a> agreed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18950740+18387594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 MECKEL SYNDROME, TYPE 6</strong>
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CC2D2A, 1762C-T
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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> rs116358011 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs116358011;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/rs116358011?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=rs116358011" 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=rs116358011" 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=RCV000000778 OR RCV001385996 OR RCV005024978" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000778, RCV001385996, RCV005024978" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000778...</a>
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<p>In 11 of 17 unrelated Finnish fetuses with Meckel syndrome type 6 (MKS6; <a href="/entry/612284">612284</a>), <a href="#9" class="mim-tip-reference" title="Tallila, J., Jakkula, E., Peltonen, L., Salonen, R., Kestila, M. <strong>Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.</strong> Am. J. Hum. Genet. 82: 1361-1367, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18513680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18513680</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18513680[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18513680">Tallila et al. (2008)</a> identified a homozygous 1762C-T transition at the end of exon 16 of the CC2D2A gene, resulting in the creation of a new donor splice site, the deletion of 4 bp at the end of exon 16, and premature termination of the protein. All fetuses had occipital encephalocele and large cystic kidneys. Most also had polydactyly of the hands and feet, clubfeet, fibrotic or cystic changes in the liver, and hypoplastic lungs. Fibroblasts isolated from 1 fetus showed no detectable cilia, although there was normal cellular localization of centrioles. Analysis of 575 healthy controls indicated that the carrier frequency of the CC2D2A mutation was 0.5% in the Finnish population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18513680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 JOUBERT SYNDROME 9</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204051 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204051;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/rs118204051?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=rs118204051" 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=rs118204051" 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=RCV000000779 OR RCV000730543 OR RCV001329602 OR RCV001851514" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000779, RCV000730543, RCV001329602, RCV001851514" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000779...</a>
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<p>In 2 patients from 2 different consanguineous Saudi Arabian families with Joubert syndrome (JBTS9; <a href="/entry/612285">612285</a>), <a href="#4" class="mim-tip-reference" title="Gorden, N. T., Arts, H. H., Parisi, M. A., Coene, K. L. M., Letteboer, S. J. F., van Beersum, S. E. C., Mans, D. A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A. F., Ozyurek, H., and 23 others. <strong>CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.</strong> Am. J. Hum. Genet. 83: 559-571, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18950740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18950740</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18950740[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18950740">Gorden et al. (2008)</a> identified a homozygous 3364C-T transition in the CC2D2A gene, resulting in a pro1122-to-ser (P1122S) substitution. Both patients had the molar tooth sign on brain MRI, but only 1 had additional features, including retinal dystrophy, and hepatosplenomegaly. Haplotype analysis indicated that the families were related. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18950740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 JOUBERT SYNDROME 9</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204052 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204052;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/rs118204052?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=rs118204052" 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=rs118204052" 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=RCV000000780 OR RCV000445290 OR RCV001269034 OR RCV003234885 OR RCV003764503 OR RCV004532267 OR RCV005031374" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000780, RCV000445290, RCV001269034, RCV003234885, RCV003764503, RCV004532267, RCV005031374" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000780...</a>
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<p><strong><em>Joubert Syndrome 9</em></strong></p><p>
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In 2 patients from a consanguineous Levanten Arab family with Joubert syndrome (JBTS9; <a href="/entry/612285">612285</a>), <a href="#4" class="mim-tip-reference" title="Gorden, N. T., Arts, H. H., Parisi, M. A., Coene, K. L. M., Letteboer, S. J. F., van Beersum, S. E. C., Mans, D. A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A. F., Ozyurek, H., and 23 others. <strong>CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.</strong> Am. J. Hum. Genet. 83: 559-571, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18950740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18950740</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18950740[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18950740">Gorden et al. (2008)</a> identified a homozygous 4582C-T transition in the CC2D2A gene, resulting in an arg1528-to-cys (R1528C) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18950740" 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>COACH Syndrome 2</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Gorden, N. T., Arts, H. H., Parisi, M. A., Coene, K. L. M., Letteboer, S. J. F., van Beersum, S. E. C., Mans, D. A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A. F., Ozyurek, H., and 23 others. <strong>CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.</strong> Am. J. Hum. Genet. 83: 559-571, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18950740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18950740</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18950740[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18950740">Gorden et al. (2008)</a> identified the R1528C mutation in compound heterozygosity with a 1-bp deletion (<a href="#0006">612013.0006</a>) in the CC2D2A gene in a woman (UW49) with COACH syndrome-2 (COACH2; <a href="/entry/619111">619111</a>), defined by <a href="#2" class="mim-tip-reference" title="Doherty, D., Parisi, M. A., Finn, L. S., Gunay-Aygun, M., Al-Mateen, M., Bates, D., Clericuzio, C., Demir, H., Dorschner, M., van Essen, A. J., Gahl, W. A., Gentile, M., and 11 others. <strong>Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).</strong> J. Med. Genet. 47: 8-21, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19574260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19574260</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19574260[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2009.067249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19574260">Doherty et al. (2010)</a> as Joubert syndrome with liver disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18950740+19574260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204053 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204053;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/rs118204053?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=rs118204053" 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=rs118204053" 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=RCV000000781 OR RCV000727257 OR RCV001266487 OR RCV002512617 OR RCV004528061" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000781, RCV000727257, RCV001266487, RCV002512617, RCV004528061" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000781...</a>
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<p>In a patient, born of consanguineous parents, with Joubert syndrome (JBTS9; <a href="/entry/612285">612285</a>), <a href="#4" class="mim-tip-reference" title="Gorden, N. T., Arts, H. H., Parisi, M. A., Coene, K. L. M., Letteboer, S. J. F., van Beersum, S. E. C., Mans, D. A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A. F., Ozyurek, H., and 23 others. <strong>CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.</strong> Am. J. Hum. Genet. 83: 559-571, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18950740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18950740</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18950740[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18950740">Gorden et al. (2008)</a> identified a homozygous 2848C-T transition in the CC2D2A gene, resulting in an arg950-to-ter (R950X) substitution. The patient had the molar tooth sign on brain MRI and retinal dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18950740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000049715 OR RCV000201550 OR RCV000727050 OR RCV000817119 OR RCV002227058 OR RCV002266895 OR RCV002513687 OR RCV004528259 OR RCV005031532" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000049715, RCV000201550, RCV000727050, RCV000817119, RCV002227058, RCV002266895, RCV002513687, RCV004528259, RCV005031532" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000049715...</a>
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<p>In a 22-year-old woman (UW49) with features of Joubert syndrome and liver disease (COACH2; <a href="/entry/619111">619111</a>), defined as Joubert syndrome with liver disease by <a href="#2" class="mim-tip-reference" title="Doherty, D., Parisi, M. A., Finn, L. S., Gunay-Aygun, M., Al-Mateen, M., Bates, D., Clericuzio, C., Demir, H., Dorschner, M., van Essen, A. J., Gahl, W. A., Gentile, M., and 11 others. <strong>Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).</strong> J. Med. Genet. 47: 8-21, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19574260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19574260</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19574260[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2009.067249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19574260">Doherty et al. (2010)</a>, <a href="#4" class="mim-tip-reference" title="Gorden, N. T., Arts, H. H., Parisi, M. A., Coene, K. L. M., Letteboer, S. J. F., van Beersum, S. E. C., Mans, D. A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A. F., Ozyurek, H., and 23 others. <strong>CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.</strong> Am. J. Hum. Genet. 83: 559-571, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18950740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18950740</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18950740[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18950740">Gorden et al. (2008)</a> identified compound heterozygosity for 2 mutations in the CC2D2A gene: a 1-bp deletion (3289delG), resulting in a frameshift and premature termination, and the R1528C mutation (<a href="#0004">612013.0004</a>). The patient had agenesis of the corpus callosum, hydrocephalus, cerebellar vermis hypoplasia, abnormal eye movements, coloboma, mild renal disease, and hepatic fibrosis requiring liver transplant at age 10 years. <a href="#4" class="mim-tip-reference" title="Gorden, N. T., Arts, H. H., Parisi, M. A., Coene, K. L. M., Letteboer, S. J. F., van Beersum, S. E. C., Mans, D. A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A. F., Ozyurek, H., and 23 others. <strong>CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.</strong> Am. J. Hum. Genet. 83: 559-571, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18950740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18950740</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18950740[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18950740">Gorden et al. (2008)</a> noted that the features in this patient were reminiscent of COACH syndrome, which in some cases may be a variant representing a transitional phenotype between Joubert syndrome and Meckel syndrome. Two additional sibs with Joubert syndrome without liver disease, renal fibrosis, or polydactyly were found to be heterozygous for the 3289delG mutation; however, a second mutation was not identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18950740+19574260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs386833750 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386833750;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/rs386833750?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=rs386833750" 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=rs386833750" 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=RCV000000783 OR RCV000023922 OR RCV000199602 OR RCV000578695 OR RCV002251848 OR RCV002476904 OR RCV004795365" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000783, RCV000023922, RCV000199602, RCV000578695, RCV002251848, RCV002476904, RCV004795365" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000783...</a>
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<p>In a 3-year-old boy (UW67) with COACH syndrome-2 (COACH2; <a href="/entry/619111">619111</a>), defined as Joubert syndrome with liver involvement, <a href="#2" class="mim-tip-reference" title="Doherty, D., Parisi, M. A., Finn, L. S., Gunay-Aygun, M., Al-Mateen, M., Bates, D., Clericuzio, C., Demir, H., Dorschner, M., van Essen, A. J., Gahl, W. A., Gentile, M., and 11 others. <strong>Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).</strong> J. Med. Genet. 47: 8-21, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19574260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19574260</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19574260[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2009.067249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19574260">Doherty et al. (2010)</a> identified compound heterozygosity for 2 mutations in the CC2D2A gene: a 3145C-T transition, resulting in an arg1049-to-ter (R1049X) substitution, and a 3347C-T transition, resulting in a thr1116-to-met (T1116M; <a href="#0008">612013.0008</a>) substitution. The patient had abnormal respiratory control, molar tooth sign on brain MRI, elevated liver enzymes, congenital hepatic fibrosis, impaired intellectual development, and echogenic kidneys with hypertension. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19574260" 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 Spanish patient with digenic inheritance of Joubert syndrome, <a href="#5" class="mim-tip-reference" title="Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., and 18 others. <strong>CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.</strong> Nature Genet. 44: 193-199, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246503</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246503[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246503">Lee et al. (2012)</a> identified a heterozygous R1049X substitution, consistent with JBTS9 (<a href="/entry/612285">612285</a>) and a heterozygous mutation in the CEP41 gene (M36T; <a href="/entry/610523#0005">610523.0005</a>), consistent with JBTS15 (<a href="/entry/614464">614464</a>). She had hypotonia, ataxia, mental retardation, and the molar tooth sign on brain MRI, but no liver, renal, or retinal involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267606709 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606709;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/rs267606709?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=rs267606709" 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=rs267606709" 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=RCV000000784 OR RCV000201781 OR RCV000729670 OR RCV001383566 OR RCV005031375" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000784, RCV000201781, RCV000729670, RCV001383566, RCV005031375" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000784...</a>
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<p>For discussion of the thr1116-to-met (T1116M) mutation in the CC2D2A gene that was found in compound heterozygous state in a boy with COACH syndrome-2 (COACH2; <a href="/entry/619111">619111</a>) by <a href="#2" class="mim-tip-reference" title="Doherty, D., Parisi, M. A., Finn, L. S., Gunay-Aygun, M., Al-Mateen, M., Bates, D., Clericuzio, C., Demir, H., Dorschner, M., van Essen, A. J., Gahl, W. A., Gentile, M., and 11 others. <strong>Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).</strong> J. Med. Genet. 47: 8-21, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19574260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19574260</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19574260[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2009.067249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19574260">Doherty et al. (2010)</a>, see <a href="#0007">612013.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19574260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387907058 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907058;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/rs387907058?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=rs387907058" 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=rs387907058" 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=RCV000023923 OR RCV000594523 OR RCV001852033 OR RCV004532401" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023923, RCV000594523, RCV001852033, RCV004532401" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023923...</a>
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<p>In a Swiss patient with digenic inheritance of Joubert syndrome, <a href="#5" class="mim-tip-reference" title="Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., and 18 others. <strong>CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.</strong> Nature Genet. 44: 193-199, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246503</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246503[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246503">Lee et al. (2012)</a> identified a heterozygous 4340A-C transversion in exon 35 of the CC2D2A gene, resulting in a glu1447-to-ala (E1447A) substitution predicted to be a potentially deleterious sequence variant and consistent with JBTS9 (<a href="/entry/612285">612285</a>) and a heterozygous mutation in the CEP41 gene (R360C; <a href="/entry/610523#0006">610523.0006</a>), consistent with JBTS15 (<a href="/entry/614464">614464</a>). She had hypotonia, ataxia, mental retardation, oculomotor apraxia, bilateral preaxial polydactyly, and the molar tooth sign on brain MRI, but no liver, renal, or retinal involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246503" 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>.0010 RETINITIS PIGMENTOSA 93</strong>
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CC2D2A, ARG925PRO (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200707391;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs200707391</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> rs200707391 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200707391;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/rs200707391?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=rs200707391" 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=rs200707391" 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=RCV001207137 OR RCV002251560 OR RCV005029754" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001207137, RCV002251560, RCV005029754" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001207137...</a>
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<p>In 3 brothers of Senegalese ancestry (CIC02584, CIC02585, and CIC02583) with nonsyndromic retinitis pigmentosa (RP93; <a href="/entry/619845">619845</a>), <a href="#6" class="mim-tip-reference" title="Mejecase, C., Hummel, A., Mohand-Said, S., Andrieu, C., El Shamieh, S., Antonio, A., Condroyer, C., Boyard, F., Foussard, M., Blanchard, S., Letexier, M., Saraiva,, J.-P., Sahel, J.-A., Zeitz, C., Audo, I. <strong>Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.</strong> Clin. Genet. 95: 329-333, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30267408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30267408</a>] [<a href="https://doi.org/10.1111/cge.13453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30267408">Mejecase et al. (2019)</a> identified compound heterozygosity for a c.2774G-C transversion (chr4.15557452G-C, GRCh38) in exon 24 of the CC2D2A gene, resulting in an arg925-to-pro (R925P) substitution at a highly conserved residue, and a deletion/insertion (c.4730_4731delinsTGTATA; <a href="#0011">612013.0011</a>) in exon 38, causing a frameshift predicted to result in a premature termination codon (Ala1577ValfsTer5). The mutations segregated with disease in the family. The R925P variant was present in the African population at a minor allele frequency of 0.00006693. In an unrelated 36-year-old woman from Central Africa with inherited retinal dystrophy, the authors identified compound heterozygosity for the R925P mutation and a 16,145-bp deletion (c.3182+355_3825del; <a href="#0012">612013.0012</a>), encompassing intron 25 to exon 33 of the CC2D2A gene. Her family members were unavailable for segregation analysis. The youngest Senegalese brother (CIC02583), who exhibited a more severe ocular phenotype, was found to be homozygous for a frameshift mutation in the achromatopsia-associated CNGA3 gene (<a href="/entry/600053#0011">600053.0011</a>), which likely accounted for his early-onset cone dysfunction (ACHM2; <a href="/entry/216900">216900</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30267408" 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">rs2148497420 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2148497420;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=rs2148497420" 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=rs2148497420" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the deletion/insertion (c.4730_4731delinsTGTATA; chr4.15601292_15601293delinsTGTATA, GRCh38) in exon 38 of the CC2D2A gene, causing a frameshift predicted to result in a premature termination codon (Ala1577ValfsTer5), that was found in compound heterozygous state in 3 brothers of Senegalese ancestry with retinitis pigmentosa (RP93; <a href="/entry/619845">619845</a>) by <a href="#6" class="mim-tip-reference" title="Mejecase, C., Hummel, A., Mohand-Said, S., Andrieu, C., El Shamieh, S., Antonio, A., Condroyer, C., Boyard, F., Foussard, M., Blanchard, S., Letexier, M., Saraiva,, J.-P., Sahel, J.-A., Zeitz, C., Audo, I. <strong>Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.</strong> Clin. Genet. 95: 329-333, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30267408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30267408</a>] [<a href="https://doi.org/10.1111/cge.13453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30267408">Mejecase et al. (2019)</a>, see <a href="#0010">612013.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30267408" 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 16,145-bp deletion (chr4.15563877_15580021del, GRCh38), encompassing intron 25 to exon 33 of the CC2D2A gene, that was found in compound heterozygous state in a 36-year-old woman from Central Africa with retinitis pigmentosa (RP93; <a href="/entry/619845">619845</a>) by <a href="#6" class="mim-tip-reference" title="Mejecase, C., Hummel, A., Mohand-Said, S., Andrieu, C., El Shamieh, S., Antonio, A., Condroyer, C., Boyard, F., Foussard, M., Blanchard, S., Letexier, M., Saraiva,, J.-P., Sahel, J.-A., Zeitz, C., Audo, I. <strong>Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.</strong> Clin. Genet. 95: 329-333, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30267408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30267408</a>] [<a href="https://doi.org/10.1111/cge.13453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30267408">Mejecase et al. (2019)</a>, see <a href="#0010">612013.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30267408" 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="Chih2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Chih, B., Liu, P., Chinn, Y., Chalouni, C., Komuves, L. G., Hass, P. E., Sandoval, W., Peterson, A. S.
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<strong>A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.</strong>
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Nature Cell Biol. 14: 61-72, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22179047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22179047</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22179047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ncb2410" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Doherty2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Doherty, D., Parisi, M. A., Finn, L. S., Gunay-Aygun, M., Al-Mateen, M., Bates, D., Clericuzio, C., Demir, H., Dorschner, M., van Essen, A. J., Gahl, W. A., Gentile, M., and 11 others.
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<strong>Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).</strong>
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J. Med. Genet. 47: 8-21, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19574260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19574260</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19574260[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=19574260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2009.067249" target="_blank">Full Text</a>]
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</p>
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<a id="3" class="mim-anchor"></a>
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<a id="Garcia-Gonzalo2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Garcia-Gonzalo, F. R., Corbit, K. C., Sirerol-Piquer, M. S., Ramaswami, G., Otto, E. A., Noriega, T. R., Seol, A. D., Robinson, J. F., Bennett, C. L., Josifova, D. J., Garcia-Verdugo, J. M., Katsanis, N., Hildebrandt, F., Reiter, J. F.
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<strong>A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.</strong>
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Nature Genet. 43: 776-784, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21725307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21725307</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21725307[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=21725307" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.891" target="_blank">Full Text</a>]
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<a id="Gorden2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gorden, N. T., Arts, H. H., Parisi, M. A., Coene, K. L. M., Letteboer, S. J. F., van Beersum, S. E. C., Mans, D. A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A. F., Ozyurek, H., and 23 others.
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<strong>CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.</strong>
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Am. J. Hum. Genet. 83: 559-571, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18950740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18950740</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18950740[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=18950740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2008.10.002" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Lee2012" class="mim-anchor"></a>
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Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., and 18 others.
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<strong>CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.</strong>
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Nature Genet. 44: 193-199, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246503</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246503[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=22246503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.1078" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Mejecase2019" class="mim-anchor"></a>
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<div class="">
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Mejecase, C., Hummel, A., Mohand-Said, S., Andrieu, C., El Shamieh, S., Antonio, A., Condroyer, C., Boyard, F., Foussard, M., Blanchard, S., Letexier, M., Saraiva,, J.-P., Sahel, J.-A., Zeitz, C., Audo, I.
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<strong>Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.</strong>
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Clin. Genet. 95: 329-333, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30267408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30267408</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30267408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.13453" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Nagase2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 7: 65-73, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10718198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10718198</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10718198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/7.1.65" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Noor2008" class="mim-anchor"></a>
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Noor, A., Windpassinger, C., Patel, M., Stachowiak, B., Mikhailov, A., Azam, M., Irfan, M., Siddiqui, Z. K., Naeem, F., Paterson, A. D., Lutfullah, M., Vincent, J. B., Ayub, M.
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<strong>CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.</strong>
|
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Am. J. Hum. Genet. 82: 1011-1018, 2008. Note: Erratum: Am. J. Hum. Genet. 83: 656 only, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18387594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18387594</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18387594[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=18387594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2008.01.021" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Tallila2008" class="mim-anchor"></a>
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Tallila, J., Jakkula, E., Peltonen, L., Salonen, R., Kestila, M.
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<strong>Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.</strong>
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Am. J. Hum. Genet. 82: 1361-1367, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18513680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18513680</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18513680[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=18513680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2008.05.004" target="_blank">Full Text</a>]
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<a id="Williams2011" class="mim-anchor"></a>
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Williams, C. L., Li, C., Kida, K., Inglis, P. N., Mohan, S., Semenec, L., Bialas, N. J., Stupay, R. M., Chen, N., Blacque, O. E., Yoder, B. K., Leroux, M. R.
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<strong>MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.</strong>
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J. Cell. Biol. 192: 1023-1041, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21422230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21422230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21422230[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=21422230" 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.201012116" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 04/19/2022
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Patricia A. Hartz - updated : 11/27/2012<br>Cassandra L. Kniffin - updated : 2/1/2012<br>Cassandra L. Kniffin - updated : 8/18/2011<br>Patricia A. Hartz - updated : 4/29/2011<br>Cassandra L. Kniffin - updated : 6/16/2010<br>Cassandra L. Kniffin - updated : 11/26/2008<br>Cassandra L. Kniffin - updated : 9/15/2008<br>Marla J. F. O'Neill - updated : 9/12/2008
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Patricia A. Hartz : 4/25/2008
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carol : 04/19/2022
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carol : 12/03/2020<br>carol : 12/02/2020<br>carol : 12/01/2020<br>alopez : 05/14/2019<br>carol : 01/30/2017<br>carol : 09/12/2013<br>alopez : 11/27/2012<br>terry : 11/27/2012<br>carol : 2/2/2012<br>ckniffin : 2/1/2012<br>alopez : 8/23/2011<br>ckniffin : 8/18/2011<br>mgross : 5/19/2011<br>mgross : 5/19/2011<br>terry : 4/29/2011<br>wwang : 6/25/2010<br>ckniffin : 6/25/2010<br>wwang : 6/24/2010<br>ckniffin : 6/16/2010<br>terry : 1/21/2010<br>carol : 12/4/2008<br>ckniffin : 11/26/2008<br>wwang : 9/16/2008<br>ckniffin : 9/15/2008<br>wwang : 9/12/2008<br>terry : 9/12/2008<br>mgross : 4/25/2008
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COILED-COIL AND C2 DOMAINS-CONTAINING PROTEIN 2A; CC2D2A
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KIAA1345
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: CC2D2A</em></strong>
|
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</span>
|
|
</p>
|
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: 4p15.32
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 4:15,469,865-15,601,557 </span>
|
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</em>
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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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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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="4">
|
|
<span class="mim-font">
|
|
4p15.32
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
COACH syndrome 2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
619111
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Joubert syndrome 9
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
612285
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Meckel syndrome 6
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
612284
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Retinitis pigmentosa 93
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
619845
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>CC2D2A is a component of a protein complex in the basal body, a ring-like structure that functions in the transition zone at the base of cilia. This complex acts as a barrier to restrict protein diffusion between plasma and ciliary membranes (Chih et al., 2012). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
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<span class="mim-text-font">
|
|
<p>By sequencing clones obtained from a size-fractionated human fetal brain cDNA library, Nagase et al. (2000) cloned CC2D2A, which they designated KIAA1345. The deduced protein contains 1,532 amino acids. RT-PCR detected moderate CC2D2A expression in ovary, lung, brain, liver, kidney, testis, and all specific adult brain regions examined. Low expression was detected in fetal brain and adult heart, and little to no expression was detected in fetal liver and adult skeletal muscle, pancreas, and spleen. In vitro-translated CC2D2A had an apparent molecular mass of more than 100 kD by SDS-PAGE. </p><p>By RT-PCR analysis of human tissues, Noor et al. (2008) detected strong CC2D2A expression in prostate, pancreas, kidney, lung, and liver with lower expression in spleen, small intestine, colon, skeletal muscle, ovary, thymus, and heart. CC2D2A contains 3 putative coiled-coil domains, a C-terminal C2 domain, and potential CaMKII recognition sites, PKC phosphorylation sites, and 2 putative nuclear localization signals. CC2D2A shares 84.8% amino acid identity with its rodent homologs. In COS-7 cells, overexpressed CC2D2A-GFP fusion protein localized almost exclusively to the cytoplasmic fraction, despite the predicted presence of potential nuclear localization signals. </p><p>Tallila et al. (2008) determined that full-length CC2D2A encodes a 1,620-residue protein. The longer transcript was present in all normal fetal tissues examined. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Noor et al. (2008) determined that the CC2D2A gene contains 37 exons spanning 131.5 kb. </p><p>Tallila et al. (2008) identified an additional exon in the CC2D2A gene located after exon 29, which brought the total number of exons to 38. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Noor et al. (2008) stated that the CC2D2A gene maps to chromosome 4p15.3. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Gorden et al. (2008) found that CC2D2A colocalized and interacted with CEP290 (610142) at the basal body in cultured ciliary cells. </p><p>Williams et al. (2011) showed that the conserved proteins Mks1 (609883), Mksr1 (B9D1), Mksr2 (B9D2; 611951), Tmem67 (609884), Rpgrip1l (610937), Cc2d2a, Nphp1 (607100), and Nphp4 (607215) functioned at an early stage of ciliogenesis in C. elegans. These 8 proteins localized to the ciliary transition zone and established attachments between the basal body and transition zone membrane. They also provided a docking site that restricted vesicle fusion to vesicles containing ciliary proteins. </p><p>Using tandem affinity purification and mass spectrometry to isolate proteins that purified with B9d1 (614144) in mouse IMCD3 cells and embryonic fibroblasts, Chih et al. (2012) identified several components of the B9d1-containing ciliary complex, including Tmem231 (614949), Tmem17 (614950), B9d2 (611951), Tctn1 (609863), Tctn2 (613846), Mks1 (609883), Ahi1 (608894), Cc2d2a, and Kctd10 (613421). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Joubert Syndrome 9</em></strong></p><p>
|
|
In a consanguineous Pakistani family with mental retardation and retinitis pigmentosa consistent with Joubert syndrome (JBTS9; 612285) mapping to chromosome 4p15.33-p15.2, Noor et al. (2008) sequenced genes within an 11.2-Mb critical region and identified homozygosity for a splice site mutation in the CC2D2A gene (612013.0001). </p><p>Gorden et al. (2008) identified 6 different mutations in the CC2D2A gene (see, e.g., 612013.0003-612013.0005) in 5 (9%) of 70 families with clinical features consistent with Joubert syndrome. There was a wide range of phenotypic features. </p><p><strong><em>Meckel Syndrome 6</em></strong></p><p>
|
|
In 11 unrelated Finnish fetuses with Meckel syndrome (MKS6; 612284), Tallila et al. (2008) identified a homozygous mutation in the CC2D2A gene (612013.0001). All parents were heterozygous for the mutation. There were 6 fetuses with Meckel syndrome that did not have CC2D2A mutations. Analysis of 575 healthy controls indicated that the carrier frequency of the CC2D2A mutation was 0.5% in the Finnish population. </p><p><strong><em>COACH Syndrome 2</em></strong></p><p>
|
|
In a patient (UW49) with features of Joubert syndrome and hepatic fibrosis requiring liver transplantation at age 10 years (COACH2; 619111), Gorden et al. (2008) identified compound heterozygous mutations in the CC2D2A gene (612013.0004 and 612013.0006). Doherty et al. (2010) reported further on this patient. </p><p>In a 3-year-old boy (UW67) with COACH2, defined as Joubert syndrome with liver disease, Doherty et al. (2010) identified compound heterozygosity for 2 mutations in the CC2D2A gene (612013.0007 and 612013.0008). The findings indicated that COACH syndrome can be considered a subtype of Joubert syndrome with liver involvement, as also noted by Gorden et al. (2008). The proposed ciliary function for CC2D2A supported a unifying underlying pathophysiology for liver disease in these disorders. </p><p><strong><em>Retinitis Pigmentosa 93</em></strong></p><p>
|
|
In 3 brothers of Senegalese ancestry with nonsyndromic retinitis pigmentosa (RP93; 619845), Mejecase et al. (2019) identified compound heterozygosity for a missense mutation (R925P; 612013.0010) and a deletion/insertion (612013.0011) in the CC2D2A gene. Analysis of targeted next-generation sequencing data from 1,056 cases of nonsyndromic retinal dystrophy identified a 36-year-old woman from Central Africa who was compound heterozygous for the R925P mutation and a 16,145-bp deletion (612013.0012) in the CC2D2A gene. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Gorden et al. (2008) found that 33% of Cc2d2a-null zebrafish ('sentinel'; snl) developed pronephric cysts by 6 days postfertilization, compared to none of wildtype zebrafish. Some of the mutant fish also developed a pericardial effusion. However, there were no overt differences with respect to cilium number or morphology between mutant and wildtype zebrafish. </p><p>Garcia-Gonzalo et al. (2011) found that Cc2d2a-null mice embryos showed randomized left-right axes, holoprosencephaly, microphthalmia, and a variably expressive curved body axis. The embryos also had cilia defects, although embryonic fibroblasts could generate cilia, indicating tissue-specific ciliary functions. The findings were similar to those observed in Tctn1 (609863)-null and Tctn2 (613846)-null mice. Garcia-Gonzalo et al. (2011) also demonstrated that Cc2d2a interacts with Tctn1 and Tctn2 and other proteins in a large complex localized to the transition zone between the ciliary axoneme and the basal body. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>12 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 JOUBERT SYNDROME 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CC2D2A, IVS19DS, G-C, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2109050324,
|
|
|
|
|
|
|
|
ClinVar: RCV000000777
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a consanguineous Pakistani family with mental retardation and retinitis pigmentosa, Noor et al. (2008) identified homozygosity for a +1G-C transversion in intron 19 (IVS19DS+1G-C) of the CC2D2A gene, resulting in skipping of exon 19, a frameshift, and premature termination after amino acid 740, which abolishes the C2 domain. The mutation was not found in 460 Pakistani control chromosomes. Gorden et al. (2008) reviewed the brain MRIs of the patients reported by Noor et al. (2008) and concluded that they both had Joubert syndrome (JBTS9; 612285). In an erratum, Noor et al. (2008) agreed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 MECKEL SYNDROME, TYPE 6</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CC2D2A, 1762C-T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs116358011,
|
|
|
|
|
|
gnomAD: rs116358011,
|
|
|
|
|
|
ClinVar: RCV000000778, RCV001385996, RCV005024978
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 11 of 17 unrelated Finnish fetuses with Meckel syndrome type 6 (MKS6; 612284), Tallila et al. (2008) identified a homozygous 1762C-T transition at the end of exon 16 of the CC2D2A gene, resulting in the creation of a new donor splice site, the deletion of 4 bp at the end of exon 16, and premature termination of the protein. All fetuses had occipital encephalocele and large cystic kidneys. Most also had polydactyly of the hands and feet, clubfeet, fibrotic or cystic changes in the liver, and hypoplastic lungs. Fibroblasts isolated from 1 fetus showed no detectable cilia, although there was normal cellular localization of centrioles. Analysis of 575 healthy controls indicated that the carrier frequency of the CC2D2A mutation was 0.5% in the Finnish population. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 JOUBERT SYNDROME 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CC2D2A, PRO1122SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204051,
|
|
|
|
|
|
gnomAD: rs118204051,
|
|
|
|
|
|
ClinVar: RCV000000779, RCV000730543, RCV001329602, RCV001851514
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 patients from 2 different consanguineous Saudi Arabian families with Joubert syndrome (JBTS9; 612285), Gorden et al. (2008) identified a homozygous 3364C-T transition in the CC2D2A gene, resulting in a pro1122-to-ser (P1122S) substitution. Both patients had the molar tooth sign on brain MRI, but only 1 had additional features, including retinal dystrophy, and hepatosplenomegaly. Haplotype analysis indicated that the families were related. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 JOUBERT SYNDROME 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
COACH SYNDROME 2, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CC2D2A, ARG1528CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204052,
|
|
|
|
|
|
gnomAD: rs118204052,
|
|
|
|
|
|
ClinVar: RCV000000780, RCV000445290, RCV001269034, RCV003234885, RCV003764503, RCV004532267, RCV005031374
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p />
|
|
<p><strong><em>Joubert Syndrome 9</em></strong></p><p>
|
|
In 2 patients from a consanguineous Levanten Arab family with Joubert syndrome (JBTS9; 612285), Gorden et al. (2008) identified a homozygous 4582C-T transition in the CC2D2A gene, resulting in an arg1528-to-cys (R1528C) substitution. </p><p><strong><em>COACH Syndrome 2</em></strong></p><p>
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Gorden et al. (2008) identified the R1528C mutation in compound heterozygosity with a 1-bp deletion (612013.0006) in the CC2D2A gene in a woman (UW49) with COACH syndrome-2 (COACH2; 619111), defined by Doherty et al. (2010) as Joubert syndrome with liver disease. </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>.0005 JOUBERT SYNDROME 9</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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CC2D2A, ARG950TER
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<br />
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SNP: rs118204053,
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gnomAD: rs118204053,
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ClinVar: RCV000000781, RCV000727257, RCV001266487, RCV002512617, RCV004528061
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient, born of consanguineous parents, with Joubert syndrome (JBTS9; 612285), Gorden et al. (2008) identified a homozygous 2848C-T transition in the CC2D2A gene, resulting in an arg950-to-ter (R950X) substitution. The patient had the molar tooth sign on brain MRI and retinal dystrophy. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 COACH SYNDROME 2</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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CC2D2A, 1-BP DEL, 3289G
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<br />
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SNP: rs386833751,
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ClinVar: RCV000049715, RCV000201550, RCV000727050, RCV000817119, RCV002227058, RCV002266895, RCV002513687, RCV004528259, RCV005031532
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 22-year-old woman (UW49) with features of Joubert syndrome and liver disease (COACH2; 619111), defined as Joubert syndrome with liver disease by Doherty et al. (2010), Gorden et al. (2008) identified compound heterozygosity for 2 mutations in the CC2D2A gene: a 1-bp deletion (3289delG), resulting in a frameshift and premature termination, and the R1528C mutation (612013.0004). The patient had agenesis of the corpus callosum, hydrocephalus, cerebellar vermis hypoplasia, abnormal eye movements, coloboma, mild renal disease, and hepatic fibrosis requiring liver transplant at age 10 years. Gorden et al. (2008) noted that the features in this patient were reminiscent of COACH syndrome, which in some cases may be a variant representing a transitional phenotype between Joubert syndrome and Meckel syndrome. Two additional sibs with Joubert syndrome without liver disease, renal fibrosis, or polydactyly were found to be heterozygous for the 3289delG mutation; however, a second mutation was not identified. </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 COACH SYNDROME 2</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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JOUBERT SYNDROME 9/15, DIGENIC, INCLUDED
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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CC2D2A, ARG1049TER
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<br />
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SNP: rs386833750,
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gnomAD: rs386833750,
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ClinVar: RCV000000783, RCV000023922, RCV000199602, RCV000578695, RCV002251848, RCV002476904, RCV004795365
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 3-year-old boy (UW67) with COACH syndrome-2 (COACH2; 619111), defined as Joubert syndrome with liver involvement, Doherty et al. (2010) identified compound heterozygosity for 2 mutations in the CC2D2A gene: a 3145C-T transition, resulting in an arg1049-to-ter (R1049X) substitution, and a 3347C-T transition, resulting in a thr1116-to-met (T1116M; 612013.0008) substitution. The patient had abnormal respiratory control, molar tooth sign on brain MRI, elevated liver enzymes, congenital hepatic fibrosis, impaired intellectual development, and echogenic kidneys with hypertension. </p><p>In a Spanish patient with digenic inheritance of Joubert syndrome, Lee et al. (2012) identified a heterozygous R1049X substitution, consistent with JBTS9 (612285) and a heterozygous mutation in the CEP41 gene (M36T; 610523.0005), consistent with JBTS15 (614464). She had hypotonia, ataxia, mental retardation, and the molar tooth sign on brain MRI, but no liver, renal, or retinal involvement. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0008 COACH SYNDROME 2</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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CC2D2A, THR1116MET
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<br />
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SNP: rs267606709,
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gnomAD: rs267606709,
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ClinVar: RCV000000784, RCV000201781, RCV000729670, RCV001383566, RCV005031375
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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 thr1116-to-met (T1116M) mutation in the CC2D2A gene that was found in compound heterozygous state in a boy with COACH syndrome-2 (COACH2; 619111) by Doherty et al. (2010), see 612013.0007. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 JOUBERT SYNDROME 9/15, DIGENIC</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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CC2D2A, GLU1447ALA
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<br />
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SNP: rs387907058,
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gnomAD: rs387907058,
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|
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ClinVar: RCV000023923, RCV000594523, RCV001852033, RCV004532401
|
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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 Swiss patient with digenic inheritance of Joubert syndrome, Lee et al. (2012) identified a heterozygous 4340A-C transversion in exon 35 of the CC2D2A gene, resulting in a glu1447-to-ala (E1447A) substitution predicted to be a potentially deleterious sequence variant and consistent with JBTS9 (612285) and a heterozygous mutation in the CEP41 gene (R360C; 610523.0006), consistent with JBTS15 (614464). She had hypotonia, ataxia, mental retardation, oculomotor apraxia, bilateral preaxial polydactyly, and the molar tooth sign on brain MRI, but no liver, renal, or retinal involvement. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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<div>
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 RETINITIS PIGMENTOSA 93</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
CC2D2A, ARG925PRO ({dbSNP rs200707391})
|
|
|
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|
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<br />
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|
|
SNP: rs200707391,
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|
|
|
|
|
gnomAD: rs200707391,
|
|
|
|
|
|
ClinVar: RCV001207137, RCV002251560, RCV005029754
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 brothers of Senegalese ancestry (CIC02584, CIC02585, and CIC02583) with nonsyndromic retinitis pigmentosa (RP93; 619845), Mejecase et al. (2019) identified compound heterozygosity for a c.2774G-C transversion (chr4.15557452G-C, GRCh38) in exon 24 of the CC2D2A gene, resulting in an arg925-to-pro (R925P) substitution at a highly conserved residue, and a deletion/insertion (c.4730_4731delinsTGTATA; 612013.0011) in exon 38, causing a frameshift predicted to result in a premature termination codon (Ala1577ValfsTer5). The mutations segregated with disease in the family. The R925P variant was present in the African population at a minor allele frequency of 0.00006693. In an unrelated 36-year-old woman from Central Africa with inherited retinal dystrophy, the authors identified compound heterozygosity for the R925P mutation and a 16,145-bp deletion (c.3182+355_3825del; 612013.0012), encompassing intron 25 to exon 33 of the CC2D2A gene. Her family members were unavailable for segregation analysis. The youngest Senegalese brother (CIC02583), who exhibited a more severe ocular phenotype, was found to be homozygous for a frameshift mutation in the achromatopsia-associated CNGA3 gene (600053.0011), which likely accounted for his early-onset cone dysfunction (ACHM2; 216900). </p>
|
|
</span>
|
|
</div>
|
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<div>
|
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<br />
|
|
</div>
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</div>
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|
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 RETINITIS PIGMENTOSA 93</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
CC2D2A, 6-BP DEL/INS, 4730TGTATA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2148497420,
|
|
|
|
|
|
|
|
ClinVar: RCV002248374
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the deletion/insertion (c.4730_4731delinsTGTATA; chr4.15601292_15601293delinsTGTATA, GRCh38) in exon 38 of the CC2D2A gene, causing a frameshift predicted to result in a premature termination codon (Ala1577ValfsTer5), that was found in compound heterozygous state in 3 brothers of Senegalese ancestry with retinitis pigmentosa (RP93; 619845) by Mejecase et al. (2019), see 612013.0010. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 RETINITIS PIGMENTOSA 93</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CC2D2A, 16-KB DEL, IVS25-EX33
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV002248372
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 16,145-bp deletion (chr4.15563877_15580021del, GRCh38), encompassing intron 25 to exon 33 of the CC2D2A gene, that was found in compound heterozygous state in a 36-year-old woman from Central Africa with retinitis pigmentosa (RP93; 619845) by Mejecase et al. (2019), see 612013.0010. </p>
|
|
</span>
|
|
</div>
|
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<div>
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|
<br />
|
|
</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
|
<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Chih, B., Liu, P., Chinn, Y., Chalouni, C., Komuves, L. G., Hass, P. E., Sandoval, W., Peterson, A. S.
|
|
<strong>A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.</strong>
|
|
Nature Cell Biol. 14: 61-72, 2012.
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[PubMed: 22179047]
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[Full Text: https://doi.org/10.1038/ncb2410]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Doherty, D., Parisi, M. A., Finn, L. S., Gunay-Aygun, M., Al-Mateen, M., Bates, D., Clericuzio, C., Demir, H., Dorschner, M., van Essen, A. J., Gahl, W. A., Gentile, M., and 11 others.
|
|
<strong>Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).</strong>
|
|
J. Med. Genet. 47: 8-21, 2010.
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[PubMed: 19574260]
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[Full Text: https://doi.org/10.1136/jmg.2009.067249]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Garcia-Gonzalo, F. R., Corbit, K. C., Sirerol-Piquer, M. S., Ramaswami, G., Otto, E. A., Noriega, T. R., Seol, A. D., Robinson, J. F., Bennett, C. L., Josifova, D. J., Garcia-Verdugo, J. M., Katsanis, N., Hildebrandt, F., Reiter, J. F.
|
|
<strong>A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.</strong>
|
|
Nature Genet. 43: 776-784, 2011.
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|
[PubMed: 21725307]
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[Full Text: https://doi.org/10.1038/ng.891]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Gorden, N. T., Arts, H. H., Parisi, M. A., Coene, K. L. M., Letteboer, S. J. F., van Beersum, S. E. C., Mans, D. A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A. F., Ozyurek, H., and 23 others.
|
|
<strong>CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.</strong>
|
|
Am. J. Hum. Genet. 83: 559-571, 2008.
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|
|
[PubMed: 18950740]
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[Full Text: https://doi.org/10.1016/j.ajhg.2008.10.002]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., and 18 others.
|
|
<strong>CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.</strong>
|
|
Nature Genet. 44: 193-199, 2012.
|
|
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|
|
[PubMed: 22246503]
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[Full Text: https://doi.org/10.1038/ng.1078]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Mejecase, C., Hummel, A., Mohand-Said, S., Andrieu, C., El Shamieh, S., Antonio, A., Condroyer, C., Boyard, F., Foussard, M., Blanchard, S., Letexier, M., Saraiva,, J.-P., Sahel, J.-A., Zeitz, C., Audo, I.
|
|
<strong>Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.</strong>
|
|
Clin. Genet. 95: 329-333, 2019.
|
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|
|
[PubMed: 30267408]
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[Full Text: https://doi.org/10.1111/cge.13453]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O.
|
|
<strong>Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
|
DNA Res. 7: 65-73, 2000.
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|
|
[PubMed: 10718198]
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[Full Text: https://doi.org/10.1093/dnares/7.1.65]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Noor, A., Windpassinger, C., Patel, M., Stachowiak, B., Mikhailov, A., Azam, M., Irfan, M., Siddiqui, Z. K., Naeem, F., Paterson, A. D., Lutfullah, M., Vincent, J. B., Ayub, M.
|
|
<strong>CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.</strong>
|
|
Am. J. Hum. Genet. 82: 1011-1018, 2008. Note: Erratum: Am. J. Hum. Genet. 83: 656 only, 2008.
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[PubMed: 18387594]
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[Full Text: https://doi.org/10.1016/j.ajhg.2008.01.021]
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Tallila, J., Jakkula, E., Peltonen, L., Salonen, R., Kestila, M.
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<strong>Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.</strong>
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Am. J. Hum. Genet. 82: 1361-1367, 2008.
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[PubMed: 18513680]
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[Full Text: https://doi.org/10.1016/j.ajhg.2008.05.004]
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Williams, C. L., Li, C., Kida, K., Inglis, P. N., Mohan, S., Semenec, L., Bialas, N. J., Stupay, R. M., Chen, N., Blacque, O. E., Yoder, B. K., Leroux, M. R.
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<strong>MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.</strong>
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J. Cell. Biol. 192: 1023-1041, 2011.
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[PubMed: 21422230]
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[Full Text: https://doi.org/10.1083/jcb.201012116]
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Marla J. F. O'Neill - updated : 04/19/2022<br>Patricia A. Hartz - updated : 11/27/2012<br>Cassandra L. Kniffin - updated : 2/1/2012<br>Cassandra L. Kniffin - updated : 8/18/2011<br>Patricia A. Hartz - updated : 4/29/2011<br>Cassandra L. Kniffin - updated : 6/16/2010<br>Cassandra L. Kniffin - updated : 11/26/2008<br>Cassandra L. Kniffin - updated : 9/15/2008<br>Marla J. F. O'Neill - updated : 9/12/2008
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Patricia A. Hartz : 4/25/2008
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carol : 04/19/2022<br>carol : 12/03/2020<br>carol : 12/02/2020<br>carol : 12/01/2020<br>alopez : 05/14/2019<br>carol : 01/30/2017<br>carol : 09/12/2013<br>alopez : 11/27/2012<br>terry : 11/27/2012<br>carol : 2/2/2012<br>ckniffin : 2/1/2012<br>alopez : 8/23/2011<br>ckniffin : 8/18/2011<br>mgross : 5/19/2011<br>mgross : 5/19/2011<br>terry : 4/29/2011<br>wwang : 6/25/2010<br>ckniffin : 6/25/2010<br>wwang : 6/24/2010<br>ckniffin : 6/16/2010<br>terry : 1/21/2010<br>carol : 12/4/2008<br>ckniffin : 11/26/2008<br>wwang : 9/16/2008<br>ckniffin : 9/15/2008<br>wwang : 9/12/2008<br>terry : 9/12/2008<br>mgross : 4/25/2008
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