3698 lines
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Entry
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- *611654 - CENTROSOME SPINDLE POLE-ASSOCIATED PROTEIN 1; CSPP1
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- OMIM
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<p>
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<span class="h4">*611654</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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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</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="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/611654">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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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<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=ENSG00000104218;t=ENST00000678616" 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=79848" 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=611654" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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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</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=ENSG00000104218;t=ENST00000678616" 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_001291339,NM_001363131,NM_001363132,NM_001363133,NM_001364869,NM_001364870,NM_001382391,NM_024790,XM_005251305,XM_006716474,XM_006716477,XM_011517598,XM_011517599,XM_011517601,XM_011517611,XM_017013847,XM_017013849,XM_017013854,XM_047422244,XM_047422245,XM_047422246,XM_047422247,XM_047422249,XM_047422250,XM_047422251,XM_047422252,XM_047422253,XM_047422254,XM_047422255,XM_047422256,XM_047422257,XM_047422258,XM_047422259,XM_047422260,XM_047422261,XM_047422262" 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_001382391" 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=611654" 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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</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=07991&isoform_id=07991_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/CSPP1" 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/10438900,18606105,44843532,94536472,116174778,119607338,119607339,119607340,313104301,605052052,767951974,1387845426,1387845428,1387845430,1424026929,1424027717,1838744812,2217373266,2217373268,2217373270,2217373272,2217373274,2217373276,2217373278,2217373280,2217373282,2217373284,2217373286,2217373288,2217373290,2217373292,2217373294,2217373296,2217373298,2217373300,2217373302,2217373304,2217373306,2217373308,2217373310,2217373312,2217373314,2217373316,2217373318,2462621096,2462621098,2462621100,2462621102,2462621104,2462621106,2462621108,2462621110,2462621112,2462621114,2462621116,2462621118,2462621120,2462621122,2462621124,2462621126,2462621128,2462621130,2462621132,2462621134,2462621136,2462621138,2462621140,2462621142,2462621144,2462621146,2462621148,2462621150,2462621152,2462621154" 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/Q1MSJ5" 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=79848" 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=ENSG00000104218;t=ENST00000678616" 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=CSPP1" 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=CSPP1" 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+79848" 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/CSPP1" 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:79848" 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/79848" 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=chr8&hgg_gene=ENST00000678616.1&hgg_start=67064368&hgg_end=67196614&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:26193" 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:26193" 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=611654[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=611654[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000104218" 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=CSPP1" 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=CSPP1" 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=CSPP1" 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=CSPP1&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/PA142672066" 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:26193" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2681832" 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/CSPP1#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:2681832" 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/79848/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=79848" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070912-619" 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=CSPP1&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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611654
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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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CENTROSOME SPINDLE POLE-ASSOCIATED PROTEIN 1; CSPP1
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</span>
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</h3>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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CSPP
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
|
Other entities represented in this entry:
|
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</span>
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</p>
|
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</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
CSPP1-S, INCLUDED
|
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</span>
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</div>
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<div>
|
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<span class="h4 mim-font">
|
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CSPP1-L, INCLUDED
|
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</span>
|
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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=CSPP1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CSPP1</a></em></strong>
|
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/8/324?start=-3&limit=10&highlight=324">8q13.1-q13.2</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr8:67064368-67196614&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'})">8:67,064,368-67,196,614</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
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Phenotype
|
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/8/324?start=-3&limit=10&highlight=324">
|
|
8q13.1-q13.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Joubert syndrome 21
|
|
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/615636"> 615636 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</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>
|
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</td>
|
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
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<p>CSPP1 interacts with centrosomes and microtubules and plays a role in cell-cycle progression and spindle organization (<a href="#2" class="mim-tip-reference" title="Patzke, S., Hauge, H., Sioud, M., Finne, E. F., Sivertsen, E. A., Delabie, J., Stokke, T., Aasheim, H.-C. <strong>Identification of a novel centrosome/microtubule-associated coiled-coil protein involved in cell-cycle progression and spindle organization.</strong> Oncogene 24: 1159-1173, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15580290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15580290</a>] [<a href="https://doi.org/10.1038/sj.onc.1208267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15580290">Patzke et al., 2005</a>; <a href="#3" class="mim-tip-reference" title="Patzke, S., Stokke, T., Aasheim, H.-C. <strong>CSPP and CSPP-L associate with centrosomes and microtubules and differently affect microtubule organization.</strong> J. Cell. Physiol. 209: 199-210, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16826565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16826565</a>] [<a href="https://doi.org/10.1002/jcp.20725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16826565">Patzke et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16826565+15580290" 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 cDNA representational difference analysis to search for genes associated with high-grade human non-Hodgkin B-cell lymphoma, followed by screening a human testis cDNA library, <a href="#2" class="mim-tip-reference" title="Patzke, S., Hauge, H., Sioud, M., Finne, E. F., Sivertsen, E. A., Delabie, J., Stokke, T., Aasheim, H.-C. <strong>Identification of a novel centrosome/microtubule-associated coiled-coil protein involved in cell-cycle progression and spindle organization.</strong> Oncogene 24: 1159-1173, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15580290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15580290</a>] [<a href="https://doi.org/10.1038/sj.onc.1208267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15580290">Patzke et al. (2005)</a> cloned a partial CSPP1 cDNA, herein termed CSPP1-S. The deduced 876-amino acid protein is highly charged and has a calculated molecular mass of 101.5 kD. CSPP1 has an N-terminal bipartite nuclear localization signal, a proline-rich region, a central domain consisting of 3 coiled-coil regions, and a C-terminal domain. Immunofluorescence studies localized CSPP1-S along microtubules, accumulating mainly around the centrosome in transfected interphase HEK293T cells. Northern blot analysis of human tissues detected a 4.4-kb transcript in testis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15580290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By database analysis, <a href="#3" class="mim-tip-reference" title="Patzke, S., Stokke, T., Aasheim, H.-C. <strong>CSPP and CSPP-L associate with centrosomes and microtubules and differently affect microtubule organization.</strong> J. Cell. Physiol. 209: 199-210, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16826565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16826565</a>] [<a href="https://doi.org/10.1002/jcp.20725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16826565">Patzke et al. (2006)</a> identified a CSPP1 isoform, which they called CSPP1-L, of 1,221 amino acids and a calculated molecular mass of 142 kD. CSPP1-L contains an N-terminal addition of 294 amino acids and a 51-amino acid insertion in the coiled-coil domain. RT-PCR detected CSPP1-L expression at higher levels than CSPP1-S in human testis and in asynchronously growing HEK293T cells and Reh cells. Relative expression levels of CSPP1-S and CSPP1-L behaved inversely in asynchronously growing Reh cells; CSPP1-S expression decreased from G1 to S and G2/M phase, whereas CSPP1-L levels increased throughout the cell cycle. Immunofluorescence studies localized CSPP1-L to the microtubules and centrosomes, accumulating at the microtubule organization center in interphase, similar to CSPP1-S. By nocodazole exposure, <a href="#3" class="mim-tip-reference" title="Patzke, S., Stokke, T., Aasheim, H.-C. <strong>CSPP and CSPP-L associate with centrosomes and microtubules and differently affect microtubule organization.</strong> J. Cell. Physiol. 209: 199-210, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16826565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16826565</a>] [<a href="https://doi.org/10.1002/jcp.20725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16826565">Patzke et al. (2006)</a> showed that both CSPP1-S and CSPP1-L localized to centrosomes independently of microtubules. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16826565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Akizu, N., Silhavy, J. L., Rosti, R. O., Scott, E., Fenstermaker, A. G., Schroth, J., Zaki, M. S., Sanchez, H., Gupta, N., Kabra, M., Kara, M., Ben-Omran, T., and 12 others. <strong>Mutations in CSPP1 lead to classical Joubert syndrome.</strong> Am. J. Hum. Genet. 94: 80-86, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360807</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360807[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.2013.11.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24360807">Akizu et al. (2014)</a> found high expression of the CSPP1 gene in human adult and fetal brain tissue, with enrichment in the cerebellum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24360807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Patzke, S., Hauge, H., Sioud, M., Finne, E. F., Sivertsen, E. A., Delabie, J., Stokke, T., Aasheim, H.-C. <strong>Identification of a novel centrosome/microtubule-associated coiled-coil protein involved in cell-cycle progression and spindle organization.</strong> Oncogene 24: 1159-1173, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15580290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15580290</a>] [<a href="https://doi.org/10.1038/sj.onc.1208267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15580290">Patzke et al. (2005)</a> showed that overexpression of CSPP1-S in HEK293T cells blocked cell-cycle progression in G1 phase and perturbed spindle formation and chromosome congression in mitosis, displaying multiple spindle poles and condensed chromosomes aligned in ring-like structures around the spindle poles. RNAi depletion of CSPP1-S perturbed cell-cycle progression in late S phase under activation of the DNA replication checkpoint. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15580290" 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="Patzke, S., Stokke, T., Aasheim, H.-C. <strong>CSPP and CSPP-L associate with centrosomes and microtubules and differently affect microtubule organization.</strong> J. Cell. Physiol. 209: 199-210, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16826565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16826565</a>] [<a href="https://doi.org/10.1002/jcp.20725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16826565">Patzke et al. (2006)</a> showed that overexpression of both CSPP1-S and CSPP1-L impaired mitotic progression; however, different phenotypes were associated with each isoform. Cells overexpressing CSPP1-L displayed frequent bipolar spindles with lagging chromosomes as well as formation of monopolar spindles. However, overexpression of CSPP1-S caused multipolar spindles and seldom showed metaphase alignment. Using CSPP1-S and CSPP1-L mutant constructs, they showed that the 294-amino acid N-terminal extension was associated with increased multipolar spindles, decreased numbers of monopolar spindles, and bipolar spindles with lagging chromosomes. Both CSPP1-S and CSPP1-L-expressing cells impaired cell-cycle progression in the G1 phase but to different degrees. C-terminal truncated mutants containing a domain common to both CSPP1-S and CSPP1-L localized to the centrosomes throughout the cell cycle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16826565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Patzke, S., Stokke, T., Aasheim, H.-C. <strong>CSPP and CSPP-L associate with centrosomes and microtubules and differently affect microtubule organization.</strong> J. Cell. Physiol. 209: 199-210, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16826565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16826565</a>] [<a href="https://doi.org/10.1002/jcp.20725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16826565">Patzke et al. (2006)</a> determined that the CSPP1 gene contains 30 exons. The CSPP1-S isoform results from alternative splicing of exon 4 and lacks exon 17. The CSPP1-L isoform contains 29 exons and lacks exon 4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16826565" 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 genomic sequence analysis, <a href="#2" class="mim-tip-reference" title="Patzke, S., Hauge, H., Sioud, M., Finne, E. F., Sivertsen, E. A., Delabie, J., Stokke, T., Aasheim, H.-C. <strong>Identification of a novel centrosome/microtubule-associated coiled-coil protein involved in cell-cycle progression and spindle organization.</strong> Oncogene 24: 1159-1173, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15580290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15580290</a>] [<a href="https://doi.org/10.1038/sj.onc.1208267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15580290">Patzke et al. (2005)</a> mapped the CSPP1 gene to chromosome 8q13.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15580290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 19 patients from 15 families with Joubert syndrome-21 (JBTS21; <a href="/entry/615636">615636</a>), <a href="#5" class="mim-tip-reference" title="Tuz, K., Bachmann-Gagescu, R., O'Day, D. R., Hua, K., Isabella, C. R., Phelps, I. G., Stolarski, A. E., O'Roak, B. J., Dempsey, J. C., Lourenco, C., Alswaid, A., Bonnemann, C. G., and 15 others. <strong>Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.</strong> Am. J. Hum. Genet. 94: 62-72, 2014. Note: Erratum: Am. J. Hum. Genet. 94: 310 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360808</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360808[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.2013.11.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24360808">Tuz et al. (2014)</a> identified biallelic truncating mutations in the CSPP1 gene (see, e.g., <a href="#0001">611654.0001</a>-<a href="#0007">611654.0007</a>). When samples were available, Sanger sequencing confirmed that the variants segregated in the families. There was wide phenotypic variation, but all patients had cerebellar vermis hypoplasia, causing the 'molar tooth sign' on brain MRI, hypotonia, delayed development, eye movement abnormalities, and abnormal breathing. Some patients had features of Jeune asphyxiating thoracic dystrophy (see SRTD1, <a href="/entry/208500">208500</a>). There were no apparent genotype/phenotype correlations. Fibroblasts from 2 unrelated patients showed absence of CSPP1 immunostaining in the axoneme, although the signal at the base of the cilium remained. Patient cells showed defects in ciliogenesis, with decreased numbers of cilia, decreased ciliary length, and evidence of decreased trafficking of the ciliary proteins ARL13B (<a href="/entry/608922">608922</a>) and ADCY3 (<a href="/entry/600291">600291</a>) to the axoneme compared to controls. Collectively, the results suggested a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24360808" 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 3 patients from 2 consanguineous Canadian Hutterite families with JBTS21, <a href="#4" class="mim-tip-reference" title="Shaheen, R., Shamseldin, H. E., Loucks, C. M., Seidahmed, M. Z., Ansari, S., Ibrahim Khalil, M., Al-Yacoub, N., Davis, E. E., Mola, N. A., Szymanska, J., Herridge, W., Chudley, A. E., and 10 others. <strong>Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.</strong> Am. J. Hum. Genet. 94: 73-79, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360803</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360803[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.2013.11.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24360803">Shaheen et al. (2014)</a> identified a homozygous truncating mutation in the CSPP1 gene (<a href="#0008">611654.0008</a>). Two fetuses from a consanguineous Saudi family with a more severe phenotype reminiscent of Meckel syndrome (<a href="/entry/249000">249000</a>) were found to carry a different homozygous truncating mutation (<a href="#0009">611654.0009</a>). A patient skin sample showed decreased numbers of ciliated fibroblasts, with complete loss of the ciliary localization of RPGRIP1L (<a href="/entry/610937">610937</a>) compared to controls. These cells also showed markedly impaired SHH (<a href="/entry/600725">600725</a>) signaling, indicating that the ciliogenesis defect has downstream consequences. Analysis of the cell cycle showed no difference between patient cells and control cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24360803" 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 6 unrelated patients with Joubert syndrome, <a href="#1" class="mim-tip-reference" title="Akizu, N., Silhavy, J. L., Rosti, R. O., Scott, E., Fenstermaker, A. G., Schroth, J., Zaki, M. S., Sanchez, H., Gupta, N., Kabra, M., Kara, M., Ben-Omran, T., and 12 others. <strong>Mutations in CSPP1 lead to classical Joubert syndrome.</strong> Am. J. Hum. Genet. 94: 80-86, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360807</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360807[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.2013.11.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24360807">Akizu et al. (2014)</a> identified biallelic truncating or splice site mutations in the CSPP1 gene (see, e.g., <a href="#0010">611654.0010</a>-<a href="#0011">611654.0011</a>). The mutations, which were found by whole-exome sequencing, segregated with the disorder in the families. The patients were ascertained from a larger cohort of 287 probands with Joubert syndrome who underwent whole-exome sequencing. The patients had a classic phenotype, with psychomotor delay, hypotonia, ataxia, breathing difficulties, variable ophthalmologic findings, and the molar tooth sign on brain imaging. Hepatic fibrosis, renal abnormalities, and polydactyly were not present. Fibroblasts from 1 patient showed absence of the CSPP1 protein, but normal cell proliferation. Serum-starved patient cells showed defective ciliogenesis, with decreased levels of ARL13B, although the number of centrosomes was normal. <a href="#1" class="mim-tip-reference" title="Akizu, N., Silhavy, J. L., Rosti, R. O., Scott, E., Fenstermaker, A. G., Schroth, J., Zaki, M. S., Sanchez, H., Gupta, N., Kabra, M., Kara, M., Ben-Omran, T., and 12 others. <strong>Mutations in CSPP1 lead to classical Joubert syndrome.</strong> Am. J. Hum. Genet. 94: 80-86, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360807</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360807[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.2013.11.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24360807">Akizu et al. (2014)</a> concluded that CSPP1 is involved in neural-specific functions of primary cilia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24360807" 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="#5" class="mim-tip-reference" title="Tuz, K., Bachmann-Gagescu, R., O'Day, D. R., Hua, K., Isabella, C. R., Phelps, I. G., Stolarski, A. E., O'Roak, B. J., Dempsey, J. C., Lourenco, C., Alswaid, A., Bonnemann, C. G., and 15 others. <strong>Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.</strong> Am. J. Hum. Genet. 94: 62-72, 2014. Note: Erratum: Am. J. Hum. Genet. 94: 310 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360808</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360808[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.2013.11.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24360808">Tuz et al. (2014)</a> found ubiquitous expression of the cspp1a gene in zebrafish at 24 hours postfertilization, including in the brain and ear. At 48 hours, expression decreased globally, but remained high in the cerebellar fold, ear, and nose pits. Morpholino knockdown of the cspp1a gene in zebrafish embryos resulted in a curved body shape, dilated ventricles, and pronephric cysts, consistent with a ciliopathy. The neurocranium also showed patterning defects. The presence of cilia did not appear to be altered in zebrafish mutants, but there was reduced ciliary localization of arl13b. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24360808" 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=611654[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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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> rs587777138 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777138;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/rs587777138?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=rs587777138" 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=rs587777138" 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 1-year-old African American patient with Joubert syndrome-21 (JBTS21; <a href="/entry/615636">615636</a>), <a href="#5" class="mim-tip-reference" title="Tuz, K., Bachmann-Gagescu, R., O'Day, D. R., Hua, K., Isabella, C. R., Phelps, I. G., Stolarski, A. E., O'Roak, B. J., Dempsey, J. C., Lourenco, C., Alswaid, A., Bonnemann, C. G., and 15 others. <strong>Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.</strong> Am. J. Hum. Genet. 94: 62-72, 2014. Note: Erratum: Am. J. Hum. Genet. 94: 310 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360808</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360808[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.2013.11.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24360808">Tuz et al. (2014)</a> identified a homozygous c.2320C-T transition in the CSPP1 gene, resulting in an arg774-to-ter (R774X) substitution. The mutation was found by Sanger sequencing of a candidate region on chromosome 8q13.1-q21.12 identified by SNP microarray analysis. It was not present in the Exome Variant Server database. The patient had a severe phenotype, with encephalocele, optic atrophy, short ribs, bell-shaped chest, and pulmonary hypoplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24360808" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 sibs of mixed European descent with JBTS21 (<a href="/entry/615636">615636</a>), <a href="#5" class="mim-tip-reference" title="Tuz, K., Bachmann-Gagescu, R., O'Day, D. R., Hua, K., Isabella, C. R., Phelps, I. G., Stolarski, A. E., O'Roak, B. J., Dempsey, J. C., Lourenco, C., Alswaid, A., Bonnemann, C. G., and 15 others. <strong>Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.</strong> Am. J. Hum. Genet. 94: 62-72, 2014. Note: Erratum: Am. J. Hum. Genet. 94: 310 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360808</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360808[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.2013.11.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24360808">Tuz et al. (2014)</a> identified compound heterozygous mutations in the CSPP1 gene: a 2-bp deletion (c.2244_2245delAA), resulting in a frameshift and premature termination (Glu750GlyfsTer30), and a 1-bp deletion (c.2280delA; <a href="#0003">611654.0003</a>), resulting in a frameshift and premature termination (Glu761LysfsTer35). The patients had a severe phenotype, with feeding abnormalities, nystagmus, short ribs, bell-shaped chest, and pulmonary hypoplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24360808" 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 1-bp deletion in the CSPP1 gene (c.2280delA) that was found in compound heterozygous state in 2 sibs with Joubert syndrome-21 (JBTS21; <a href="/entry/615636">615636</a>) by <a href="#5" class="mim-tip-reference" title="Tuz, K., Bachmann-Gagescu, R., O'Day, D. R., Hua, K., Isabella, C. R., Phelps, I. G., Stolarski, A. E., O'Roak, B. J., Dempsey, J. C., Lourenco, C., Alswaid, A., Bonnemann, C. G., and 15 others. <strong>Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.</strong> Am. J. Hum. Genet. 94: 62-72, 2014. Note: Erratum: Am. J. Hum. Genet. 94: 310 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360808</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360808[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.2013.11.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24360808">Tuz et al. (2014)</a>, see <a href="#0002">611654.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24360808" 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">rs587777141 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777141;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=rs587777141" 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=rs587777141" 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=RCV000087069" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087069" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087069</a>
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<p>In 3 unrelated Brazilian patients with Joubert syndrome-21 (JBTS21; <a href="/entry/615636">615636</a>), <a href="#5" class="mim-tip-reference" title="Tuz, K., Bachmann-Gagescu, R., O'Day, D. R., Hua, K., Isabella, C. R., Phelps, I. G., Stolarski, A. E., O'Roak, B. J., Dempsey, J. C., Lourenco, C., Alswaid, A., Bonnemann, C. G., and 15 others. <strong>Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.</strong> Am. J. Hum. Genet. 94: 62-72, 2014. Note: Erratum: Am. J. Hum. Genet. 94: 310 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360808</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360808[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.2013.11.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24360808">Tuz et al. (2014)</a> identified compound heterozygous mutations in the CSPP1 gene: a 1-bp insertion (c.3211_3212insA), resulting in a frameshift and premature termination (Tyr1071Ter), and a G-to-A transition in intron 22 (c.2953+1G-A; <a href="#0005">611654.0005</a>), resulting in a splice site mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24360808" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 JOUBERT SYNDROME 21</strong>
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CSPP1, IVS22DS, G-A, +1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587777142 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777142;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/rs587777142?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=rs587777142" 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=rs587777142" 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=RCV000087070" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087070" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087070</a>
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<p>For discussion of the splice site mutation in the CSPP1 gene (c.2953+1G-A) that was found in compound heterozygous state in patients with Joubert syndrome-21 (JBTS21; <a href="/entry/615636">615636</a>) by <a href="#5" class="mim-tip-reference" title="Tuz, K., Bachmann-Gagescu, R., O'Day, D. R., Hua, K., Isabella, C. R., Phelps, I. G., Stolarski, A. E., O'Roak, B. J., Dempsey, J. C., Lourenco, C., Alswaid, A., Bonnemann, C. G., and 15 others. <strong>Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.</strong> Am. J. Hum. Genet. 94: 62-72, 2014. Note: Erratum: Am. J. Hum. Genet. 94: 310 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360808</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360808[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.2013.11.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24360808">Tuz et al. (2014)</a>, see <a href="#0004">611654.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24360808" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 JOUBERT SYNDROME 21</strong>
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CSPP1, 2-BP DEL, 2527AT
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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> rs587777143 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777143;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/rs587777143?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=rs587777143" 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=rs587777143" 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=RCV000087071" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087071" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087071</a>
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<p>In 2 unrelated patients of Turkish and Lebanese descent, respectively, with Joubert syndrome-21 (JBTS21; <a href="/entry/615636">615636</a>), <a href="#5" class="mim-tip-reference" title="Tuz, K., Bachmann-Gagescu, R., O'Day, D. R., Hua, K., Isabella, C. R., Phelps, I. G., Stolarski, A. E., O'Roak, B. J., Dempsey, J. C., Lourenco, C., Alswaid, A., Bonnemann, C. G., and 15 others. <strong>Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.</strong> Am. J. Hum. Genet. 94: 62-72, 2014. Note: Erratum: Am. J. Hum. Genet. 94: 310 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360808</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360808[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.2013.11.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24360808">Tuz et al. (2014)</a> identified a homozygous 2-bp deletion (c.2527_2528delAT), resulting in a frameshift and premature termination (Met843GlufsTer25). Two Turkish sibs from a third family with the disorder were compound heterozygous for c.2527_2528delAT and a c.658C-T transition, resulting in an arg220-to-ter (R220X; <a href="#0007">611654.0007</a>) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24360808" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<strong>.0007 JOUBERT SYNDROME 21</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> rs375113643 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs375113643;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/rs375113643?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=rs375113643" 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=rs375113643" 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=RCV000087072" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087072" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087072</a>
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<p>For discussion of the arg220-to-ter (R220X) mutation in the CSPP1 gene that was found in compound heterozygous state in patients with Joubert syndrome-21 (JBTS21; <a href="/entry/615636">615636</a>) by <a href="#5" class="mim-tip-reference" title="Tuz, K., Bachmann-Gagescu, R., O'Day, D. R., Hua, K., Isabella, C. R., Phelps, I. G., Stolarski, A. E., O'Roak, B. J., Dempsey, J. C., Lourenco, C., Alswaid, A., Bonnemann, C. G., and 15 others. <strong>Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.</strong> Am. J. Hum. Genet. 94: 62-72, 2014. Note: Erratum: Am. J. Hum. Genet. 94: 310 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360808</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360808[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.2013.11.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24360808">Tuz et al. (2014)</a>, see <a href="#0006">611654.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24360808" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0008" class="mim-anchor"></a>
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<strong>.0008 JOUBERT SYNDROME 21</strong>
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CSPP1, 2-BP DEL, 363TA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1554562278 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554562278;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=rs1554562278" 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=rs1554562278" 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=RCV000087073" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087073" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087073</a>
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<p>In a girl, born of related Schmiedeleut Hutterite Canadian parents, with Joubert syndrome-21 (JBTS21; <a href="/entry/615636">615636</a>), <a href="#4" class="mim-tip-reference" title="Shaheen, R., Shamseldin, H. E., Loucks, C. M., Seidahmed, M. Z., Ansari, S., Ibrahim Khalil, M., Al-Yacoub, N., Davis, E. E., Mola, N. A., Szymanska, J., Herridge, W., Chudley, A. E., and 10 others. <strong>Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.</strong> Am. J. Hum. Genet. 94: 73-79, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360803</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360803[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.2013.11.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24360803">Shaheen et al. (2014)</a> identified a homozygous 2-bp deletion (c.363_364delTA) in the CSPP1 gene, resulting in a frameshift and premature termination (His121GlnfsTer22). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The mutation was absent from publicly available databases. Two sibs from another Schmiedeleut Hutterite family were also found to carry this homozygous mutation. These patients had a more severe form of the disorder with multiple malformations of the posterior fossa and cerebellum; both died in infancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24360803" 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">rs587777145 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777145;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=rs587777145" 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=rs587777145" 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=RCV000087074 OR RCV000162164 OR RCV001008753 OR RCV004757127" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087074, RCV000162164, RCV001008753, RCV004757127" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087074...</a>
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<p>In a stillborn fetus, born of consanguineous Saudi parents, with Joubert syndrome-21 (JBTS21; <a href="/entry/615636">615636</a>), <a href="#4" class="mim-tip-reference" title="Shaheen, R., Shamseldin, H. E., Loucks, C. M., Seidahmed, M. Z., Ansari, S., Ibrahim Khalil, M., Al-Yacoub, N., Davis, E. E., Mola, N. A., Szymanska, J., Herridge, W., Chudley, A. E., and 10 others. <strong>Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.</strong> Am. J. Hum. Genet. 94: 73-79, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360803</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360803[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.2013.11.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24360803">Shaheen et al. (2014)</a> identified a homozygous 4-bp deletion (c.2244_2247delAAGA) in the CSPP1 gene, resulting in a frameshift and premature termination (Glu750LysfsTer7). The mutation segregated with the disorder in the family. This fetus and another stillborn fetus in this family had severe multisystem defects, including hydranencephaly, occipital encephalocele, wide cranial sutures, anophthalmia, single nostril, and hyperechogenic kidneys. The phenotype was reminiscent of Meckel syndrome (MKS; <a href="/entry/249000">249000</a>). A third pregnancy ended in spontaneous first-trimester abortion. A patient skin sample showed decreased numbers of ciliated fibroblasts, with complete loss of the ciliary localization of RPGRIP1L (<a href="/entry/610937">610937</a>) compared to controls. These cells also showed markedly impaired SHH (<a href="/entry/600725">600725</a>) signaling, indicating that the ciliogenesis defect has downstream consequences. Analysis of the cell cycle showed no difference between patient cells and control cells. <a href="#4" class="mim-tip-reference" title="Shaheen, R., Shamseldin, H. E., Loucks, C. M., Seidahmed, M. Z., Ansari, S., Ibrahim Khalil, M., Al-Yacoub, N., Davis, E. E., Mola, N. A., Szymanska, J., Herridge, W., Chudley, A. E., and 10 others. <strong>Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.</strong> Am. J. Hum. Genet. 94: 73-79, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360803</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360803[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.2013.11.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24360803">Shaheen et al. (2014)</a> noted that this mutation affects both CSPP1 isoforms, which may have contributed to the severe phenotype. CSPP1 mutations were not identified in 89 additional patients with MKS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24360803" 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">rs587777146 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777146;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=rs587777146" 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=rs587777146" 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 Mexican boy with Joubert syndrome-21 (JBTS21; <a href="/entry/615636">615636</a>), <a href="#1" class="mim-tip-reference" title="Akizu, N., Silhavy, J. L., Rosti, R. O., Scott, E., Fenstermaker, A. G., Schroth, J., Zaki, M. S., Sanchez, H., Gupta, N., Kabra, M., Kara, M., Ben-Omran, T., and 12 others. <strong>Mutations in CSPP1 lead to classical Joubert syndrome.</strong> Am. J. Hum. Genet. 94: 80-86, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360807</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360807[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.2013.11.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24360807">Akizu et al. (2014)</a> identified a homozygous c.652C-T transition in the CSPP1 gene, resulting in a gln218-to-ter (Q218X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the Exome Variant Server database or in control exomes from 2,500 individuals. The patient had psychomotor delay, hypotonia, ataxia, retinopathy, oculomotor apraxia, nystagmus, mild sensorineural hearing loss, obesity, the molar tooth sign on brain imaging, and thin corpus callosum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24360807" 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> rs537456518 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs537456518;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/rs537456518?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=rs537456518" 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=rs537456518" 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 Libyan boy, born of consanguineous parents, with Joubert syndrome-21 (JBTS21; <a href="/entry/615636">615636</a>), <a href="#1" class="mim-tip-reference" title="Akizu, N., Silhavy, J. L., Rosti, R. O., Scott, E., Fenstermaker, A. G., Schroth, J., Zaki, M. S., Sanchez, H., Gupta, N., Kabra, M., Kara, M., Ben-Omran, T., and 12 others. <strong>Mutations in CSPP1 lead to classical Joubert syndrome.</strong> Am. J. Hum. Genet. 94: 80-86, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360807</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360807[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.2013.11.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24360807">Akizu et al. (2014)</a> identified a homozygous c.2773C-T transition in the CSPP1 gene, resulting in an arg925-to-ter (R925X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the Exome Variant Server database or in control exomes from 2,500 individuals. The patient had psychomotor delay, hypotonia, breathing abnormalities, nystagmus, the molar tooth sign on brain imaging, and thin corpus callosum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24360807" 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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Am. J. Hum. Genet. 94: 80-86, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360807</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360807[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=24360807" 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.2013.11.015" target="_blank">Full Text</a>]
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<strong>Identification of a novel centrosome/microtubule-associated coiled-coil protein involved in cell-cycle progression and spindle organization.</strong>
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Oncogene 24: 1159-1173, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15580290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15580290</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15580290" 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/sj.onc.1208267" target="_blank">Full Text</a>]
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<strong>CSPP and CSPP-L associate with centrosomes and microtubules and differently affect microtubule organization.</strong>
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J. Cell. Physiol. 209: 199-210, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16826565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16826565</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16826565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/jcp.20725" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Shaheen2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shaheen, R., Shamseldin, H. E., Loucks, C. M., Seidahmed, M. Z., Ansari, S., Ibrahim Khalil, M., Al-Yacoub, N., Davis, E. E., Mola, N. A., Szymanska, J., Herridge, W., Chudley, A. E., and 10 others.
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<strong>Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.</strong>
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Am. J. Hum. Genet. 94: 73-79, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360803</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360803[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=24360803" 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.2013.11.010" target="_blank">Full Text</a>]
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</p>
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<a id="5" class="mim-anchor"></a>
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<a id="Tuz2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tuz, K., Bachmann-Gagescu, R., O'Day, D. R., Hua, K., Isabella, C. R., Phelps, I. G., Stolarski, A. E., O'Roak, B. J., Dempsey, J. C., Lourenco, C., Alswaid, A., Bonnemann, C. G., and 15 others.
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<strong>Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.</strong>
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Am. J. Hum. Genet. 94: 62-72, 2014. Note: Erratum: Am. J. Hum. Genet. 94: 310 only, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24360808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24360808</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24360808[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=24360808" 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.2013.11.019" target="_blank">Full Text</a>]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/11/2014
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Dorothy S. Reilly : 12/10/2007
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</span>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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alopez : 08/11/2015
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mcolton : 7/31/2015<br>alopez : 2/9/2015<br>alopez : 2/25/2014<br>carol : 2/17/2014<br>mcolton : 2/12/2014<br>ckniffin : 2/11/2014<br>carol : 12/11/2007<br>wwang : 12/10/2007
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<span class="mim-font">
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<strong>*</strong> 611654
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<div>
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<h3>
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<span class="mim-font">
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CENTROSOME SPINDLE POLE-ASSOCIATED PROTEIN 1; CSPP1
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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CSPP
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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<div>
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<span class="h3 mim-font">
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CSPP1-S, INCLUDED
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<span class="h4 mim-font">
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CSPP1-L, INCLUDED
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<div>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CSPP1</em></strong>
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</span>
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<strong>
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<em>
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Cytogenetic location: 8q13.1-q13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 8:67,064,368-67,196,614 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<th>
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Location
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</th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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8q13.1-q13.2
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<td>
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<span class="mim-font">
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Joubert syndrome 21
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</td>
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<td>
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<span class="mim-font">
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615636
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<td>
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<span class="mim-font">
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Autosomal recessive
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</td>
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<strong>Description</strong>
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</div>
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<span class="mim-text-font">
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<p>CSPP1 interacts with centrosomes and microtubules and plays a role in cell-cycle progression and spindle organization (Patzke et al., 2005; Patzke et al., 2006). </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>By cDNA representational difference analysis to search for genes associated with high-grade human non-Hodgkin B-cell lymphoma, followed by screening a human testis cDNA library, Patzke et al. (2005) cloned a partial CSPP1 cDNA, herein termed CSPP1-S. The deduced 876-amino acid protein is highly charged and has a calculated molecular mass of 101.5 kD. CSPP1 has an N-terminal bipartite nuclear localization signal, a proline-rich region, a central domain consisting of 3 coiled-coil regions, and a C-terminal domain. Immunofluorescence studies localized CSPP1-S along microtubules, accumulating mainly around the centrosome in transfected interphase HEK293T cells. Northern blot analysis of human tissues detected a 4.4-kb transcript in testis. </p><p>By database analysis, Patzke et al. (2006) identified a CSPP1 isoform, which they called CSPP1-L, of 1,221 amino acids and a calculated molecular mass of 142 kD. CSPP1-L contains an N-terminal addition of 294 amino acids and a 51-amino acid insertion in the coiled-coil domain. RT-PCR detected CSPP1-L expression at higher levels than CSPP1-S in human testis and in asynchronously growing HEK293T cells and Reh cells. Relative expression levels of CSPP1-S and CSPP1-L behaved inversely in asynchronously growing Reh cells; CSPP1-S expression decreased from G1 to S and G2/M phase, whereas CSPP1-L levels increased throughout the cell cycle. Immunofluorescence studies localized CSPP1-L to the microtubules and centrosomes, accumulating at the microtubule organization center in interphase, similar to CSPP1-S. By nocodazole exposure, Patzke et al. (2006) showed that both CSPP1-S and CSPP1-L localized to centrosomes independently of microtubules. </p><p>Akizu et al. (2014) found high expression of the CSPP1 gene in human adult and fetal brain tissue, with enrichment in the cerebellum. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Patzke et al. (2005) showed that overexpression of CSPP1-S in HEK293T cells blocked cell-cycle progression in G1 phase and perturbed spindle formation and chromosome congression in mitosis, displaying multiple spindle poles and condensed chromosomes aligned in ring-like structures around the spindle poles. RNAi depletion of CSPP1-S perturbed cell-cycle progression in late S phase under activation of the DNA replication checkpoint. </p><p>Patzke et al. (2006) showed that overexpression of both CSPP1-S and CSPP1-L impaired mitotic progression; however, different phenotypes were associated with each isoform. Cells overexpressing CSPP1-L displayed frequent bipolar spindles with lagging chromosomes as well as formation of monopolar spindles. However, overexpression of CSPP1-S caused multipolar spindles and seldom showed metaphase alignment. Using CSPP1-S and CSPP1-L mutant constructs, they showed that the 294-amino acid N-terminal extension was associated with increased multipolar spindles, decreased numbers of monopolar spindles, and bipolar spindles with lagging chromosomes. Both CSPP1-S and CSPP1-L-expressing cells impaired cell-cycle progression in the G1 phase but to different degrees. C-terminal truncated mutants containing a domain common to both CSPP1-S and CSPP1-L localized to the centrosomes throughout the cell cycle. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Patzke et al. (2006) determined that the CSPP1 gene contains 30 exons. The CSPP1-S isoform results from alternative splicing of exon 4 and lacks exon 17. The CSPP1-L isoform contains 29 exons and lacks exon 4. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Patzke et al. (2005) mapped the CSPP1 gene to chromosome 8q13.2. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 19 patients from 15 families with Joubert syndrome-21 (JBTS21; 615636), Tuz et al. (2014) identified biallelic truncating mutations in the CSPP1 gene (see, e.g., 611654.0001-611654.0007). When samples were available, Sanger sequencing confirmed that the variants segregated in the families. There was wide phenotypic variation, but all patients had cerebellar vermis hypoplasia, causing the 'molar tooth sign' on brain MRI, hypotonia, delayed development, eye movement abnormalities, and abnormal breathing. Some patients had features of Jeune asphyxiating thoracic dystrophy (see SRTD1, 208500). There were no apparent genotype/phenotype correlations. Fibroblasts from 2 unrelated patients showed absence of CSPP1 immunostaining in the axoneme, although the signal at the base of the cilium remained. Patient cells showed defects in ciliogenesis, with decreased numbers of cilia, decreased ciliary length, and evidence of decreased trafficking of the ciliary proteins ARL13B (608922) and ADCY3 (600291) to the axoneme compared to controls. Collectively, the results suggested a loss of function. </p><p>In 3 patients from 2 consanguineous Canadian Hutterite families with JBTS21, Shaheen et al. (2014) identified a homozygous truncating mutation in the CSPP1 gene (611654.0008). Two fetuses from a consanguineous Saudi family with a more severe phenotype reminiscent of Meckel syndrome (249000) were found to carry a different homozygous truncating mutation (611654.0009). A patient skin sample showed decreased numbers of ciliated fibroblasts, with complete loss of the ciliary localization of RPGRIP1L (610937) compared to controls. These cells also showed markedly impaired SHH (600725) signaling, indicating that the ciliogenesis defect has downstream consequences. Analysis of the cell cycle showed no difference between patient cells and control cells. </p><p>In 6 unrelated patients with Joubert syndrome, Akizu et al. (2014) identified biallelic truncating or splice site mutations in the CSPP1 gene (see, e.g., 611654.0010-611654.0011). The mutations, which were found by whole-exome sequencing, segregated with the disorder in the families. The patients were ascertained from a larger cohort of 287 probands with Joubert syndrome who underwent whole-exome sequencing. The patients had a classic phenotype, with psychomotor delay, hypotonia, ataxia, breathing difficulties, variable ophthalmologic findings, and the molar tooth sign on brain imaging. Hepatic fibrosis, renal abnormalities, and polydactyly were not present. Fibroblasts from 1 patient showed absence of the CSPP1 protein, but normal cell proliferation. Serum-starved patient cells showed defective ciliogenesis, with decreased levels of ARL13B, although the number of centrosomes was normal. Akizu et al. (2014) concluded that CSPP1 is involved in neural-specific functions of primary cilia. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Tuz et al. (2014) found ubiquitous expression of the cspp1a gene in zebrafish at 24 hours postfertilization, including in the brain and ear. At 48 hours, expression decreased globally, but remained high in the cerebellar fold, ear, and nose pits. Morpholino knockdown of the cspp1a gene in zebrafish embryos resulted in a curved body shape, dilated ventricles, and pronephric cysts, consistent with a ciliopathy. The neurocranium also showed patterning defects. The presence of cilia did not appear to be altered in zebrafish mutants, but there was reduced ciliary localization of arl13b. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>11 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 JOUBERT SYNDROME 21</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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CSPP1, ARG774TER
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<br />
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SNP: rs587777138,
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gnomAD: rs587777138,
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ClinVar: RCV000087066, RCV004719692, RCV004757126
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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 1-year-old African American patient with Joubert syndrome-21 (JBTS21; 615636), Tuz et al. (2014) identified a homozygous c.2320C-T transition in the CSPP1 gene, resulting in an arg774-to-ter (R774X) substitution. The mutation was found by Sanger sequencing of a candidate region on chromosome 8q13.1-q21.12 identified by SNP microarray analysis. It was not present in the Exome Variant Server database. The patient had a severe phenotype, with encephalocele, optic atrophy, short ribs, bell-shaped chest, and pulmonary hypoplasia. </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>.0002 JOUBERT SYNDROME 21</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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CSPP1, 2-BP DEL, 2244AA
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<br />
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SNP: rs587777139,
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ClinVar: RCV000087067, RCV001555416
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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 2 sibs of mixed European descent with JBTS21 (615636), Tuz et al. (2014) identified compound heterozygous mutations in the CSPP1 gene: a 2-bp deletion (c.2244_2245delAA), resulting in a frameshift and premature termination (Glu750GlyfsTer30), and a 1-bp deletion (c.2280delA; 611654.0003), resulting in a frameshift and premature termination (Glu761LysfsTer35). The patients had a severe phenotype, with feeding abnormalities, nystagmus, short ribs, bell-shaped chest, and pulmonary hypoplasia. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0003 JOUBERT SYNDROME 21</strong>
|
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</span>
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</h4>
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</div>
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<div>
|
|
<span class="mim-text-font">
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CSPP1, 1-BP DEL, 2280A
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<br />
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SNP: rs587777140,
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ClinVar: RCV000087068
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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 1-bp deletion in the CSPP1 gene (c.2280delA) that was found in compound heterozygous state in 2 sibs with Joubert syndrome-21 (JBTS21; 615636) by Tuz et al. (2014), see 611654.0002. </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>.0004 JOUBERT SYNDROME 21</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
CSPP1, 1-BP INS, 3211A
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<br />
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SNP: rs587777141,
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|
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ClinVar: RCV000087069
|
|
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|
|
</span>
|
|
</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 unrelated Brazilian patients with Joubert syndrome-21 (JBTS21; 615636), Tuz et al. (2014) identified compound heterozygous mutations in the CSPP1 gene: a 1-bp insertion (c.3211_3212insA), resulting in a frameshift and premature termination (Tyr1071Ter), and a G-to-A transition in intron 22 (c.2953+1G-A; 611654.0005), resulting in a splice site mutation. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 JOUBERT SYNDROME 21</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CSPP1, IVS22DS, G-A, +1
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs587777142,
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|
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|
|
gnomAD: rs587777142,
|
|
|
|
|
|
ClinVar: RCV000087070
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the CSPP1 gene (c.2953+1G-A) that was found in compound heterozygous state in patients with Joubert syndrome-21 (JBTS21; 615636) by Tuz et al. (2014), see 611654.0004. </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>.0006 JOUBERT SYNDROME 21</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CSPP1, 2-BP DEL, 2527AT
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777143,
|
|
|
|
|
|
gnomAD: rs587777143,
|
|
|
|
|
|
ClinVar: RCV000087071
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated patients of Turkish and Lebanese descent, respectively, with Joubert syndrome-21 (JBTS21; 615636), Tuz et al. (2014) identified a homozygous 2-bp deletion (c.2527_2528delAT), resulting in a frameshift and premature termination (Met843GlufsTer25). Two Turkish sibs from a third family with the disorder were compound heterozygous for c.2527_2528delAT and a c.658C-T transition, resulting in an arg220-to-ter (R220X; 611654.0007) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 JOUBERT SYNDROME 21</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CSPP1, ARG220TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs375113643,
|
|
|
|
|
|
gnomAD: rs375113643,
|
|
|
|
|
|
ClinVar: RCV000087072
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg220-to-ter (R220X) mutation in the CSPP1 gene that was found in compound heterozygous state in patients with Joubert syndrome-21 (JBTS21; 615636) by Tuz et al. (2014), see 611654.0006. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 JOUBERT SYNDROME 21</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CSPP1, 2-BP DEL, 363TA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1554562278,
|
|
|
|
|
|
|
|
ClinVar: RCV000087073
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a girl, born of related Schmiedeleut Hutterite Canadian parents, with Joubert syndrome-21 (JBTS21; 615636), Shaheen et al. (2014) identified a homozygous 2-bp deletion (c.363_364delTA) in the CSPP1 gene, resulting in a frameshift and premature termination (His121GlnfsTer22). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The mutation was absent from publicly available databases. Two sibs from another Schmiedeleut Hutterite family were also found to carry this homozygous mutation. These patients had a more severe form of the disorder with multiple malformations of the posterior fossa and cerebellum; both died in infancy. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 JOUBERT SYNDROME 21</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CSPP1, 4-BP DEL, 2244AAGA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777145,
|
|
|
|
|
|
|
|
ClinVar: RCV000087074, RCV000162164, RCV001008753, RCV004757127
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a stillborn fetus, born of consanguineous Saudi parents, with Joubert syndrome-21 (JBTS21; 615636), Shaheen et al. (2014) identified a homozygous 4-bp deletion (c.2244_2247delAAGA) in the CSPP1 gene, resulting in a frameshift and premature termination (Glu750LysfsTer7). The mutation segregated with the disorder in the family. This fetus and another stillborn fetus in this family had severe multisystem defects, including hydranencephaly, occipital encephalocele, wide cranial sutures, anophthalmia, single nostril, and hyperechogenic kidneys. The phenotype was reminiscent of Meckel syndrome (MKS; 249000). A third pregnancy ended in spontaneous first-trimester abortion. A patient skin sample showed decreased numbers of ciliated fibroblasts, with complete loss of the ciliary localization of RPGRIP1L (610937) compared to controls. These cells also showed markedly impaired SHH (600725) signaling, indicating that the ciliogenesis defect has downstream consequences. Analysis of the cell cycle showed no difference between patient cells and control cells. Shaheen et al. (2014) noted that this mutation affects both CSPP1 isoforms, which may have contributed to the severe phenotype. CSPP1 mutations were not identified in 89 additional patients with MKS. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 JOUBERT SYNDROME 21</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CSPP1, GLN218TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777146,
|
|
|
|
|
|
|
|
ClinVar: RCV000087075
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Mexican boy with Joubert syndrome-21 (JBTS21; 615636), Akizu et al. (2014) identified a homozygous c.652C-T transition in the CSPP1 gene, resulting in a gln218-to-ter (Q218X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the Exome Variant Server database or in control exomes from 2,500 individuals. The patient had psychomotor delay, hypotonia, ataxia, retinopathy, oculomotor apraxia, nystagmus, mild sensorineural hearing loss, obesity, the molar tooth sign on brain imaging, and thin corpus callosum. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 JOUBERT SYNDROME 21</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CSPP1, ARG925TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs537456518,
|
|
|
|
|
|
gnomAD: rs537456518,
|
|
|
|
|
|
ClinVar: RCV000087076
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Libyan boy, born of consanguineous parents, with Joubert syndrome-21 (JBTS21; 615636), Akizu et al. (2014) identified a homozygous c.2773C-T transition in the CSPP1 gene, resulting in an arg925-to-ter (R925X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the Exome Variant Server database or in control exomes from 2,500 individuals. The patient had psychomotor delay, hypotonia, breathing abnormalities, nystagmus, the molar tooth sign on brain imaging, and thin corpus callosum. </p>
|
|
</span>
|
|
</div>
|
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<div>
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|
<br />
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|
</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Akizu, N., Silhavy, J. L., Rosti, R. O., Scott, E., Fenstermaker, A. G., Schroth, J., Zaki, M. S., Sanchez, H., Gupta, N., Kabra, M., Kara, M., Ben-Omran, T., and 12 others.
|
|
<strong>Mutations in CSPP1 lead to classical Joubert syndrome.</strong>
|
|
Am. J. Hum. Genet. 94: 80-86, 2014.
|
|
|
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|
|
[PubMed: 24360807]
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|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2013.11.015]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Patzke, S., Hauge, H., Sioud, M., Finne, E. F., Sivertsen, E. A., Delabie, J., Stokke, T., Aasheim, H.-C.
|
|
<strong>Identification of a novel centrosome/microtubule-associated coiled-coil protein involved in cell-cycle progression and spindle organization.</strong>
|
|
Oncogene 24: 1159-1173, 2005.
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|
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|
|
[PubMed: 15580290]
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|
[Full Text: https://doi.org/10.1038/sj.onc.1208267]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Patzke, S., Stokke, T., Aasheim, H.-C.
|
|
<strong>CSPP and CSPP-L associate with centrosomes and microtubules and differently affect microtubule organization.</strong>
|
|
J. Cell. Physiol. 209: 199-210, 2006.
|
|
|
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|
|
[PubMed: 16826565]
|
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|
|
[Full Text: https://doi.org/10.1002/jcp.20725]
|
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</p>
|
|
</li>
|
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|
<li>
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Shaheen, R., Shamseldin, H. E., Loucks, C. M., Seidahmed, M. Z., Ansari, S., Ibrahim Khalil, M., Al-Yacoub, N., Davis, E. E., Mola, N. A., Szymanska, J., Herridge, W., Chudley, A. E., and 10 others.
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<strong>Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.</strong>
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Am. J. Hum. Genet. 94: 73-79, 2014.
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[PubMed: 24360803]
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[Full Text: https://doi.org/10.1016/j.ajhg.2013.11.010]
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Tuz, K., Bachmann-Gagescu, R., O'Day, D. R., Hua, K., Isabella, C. R., Phelps, I. G., Stolarski, A. E., O'Roak, B. J., Dempsey, J. C., Lourenco, C., Alswaid, A., Bonnemann, C. G., and 15 others.
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<strong>Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.</strong>
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Am. J. Hum. Genet. 94: 62-72, 2014. Note: Erratum: Am. J. Hum. Genet. 94: 310 only, 2014.
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[PubMed: 24360808]
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[Full Text: https://doi.org/10.1016/j.ajhg.2013.11.019]
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Cassandra L. Kniffin - updated : 2/11/2014
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Dorothy S. Reilly : 12/10/2007
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