2800 lines
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Entry
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- *114251 - CALSEQUESTRIN 2; CASQ2
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*114251</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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/114251">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div id="mimFloatingLinksMenu">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000118729;t=ENST00000261448" 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=845" 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=114251" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000118729;t=ENST00000261448" 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_001232" 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_001232" 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=114251" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=00256&isoform_id=00256_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/CASQ2" 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/2627062,18490363,23503043,119395727,119577039,119577040,189053621,194374331,194380538,444738131,2647008183" 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/O14958" 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=845" 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=ENSG00000118729;t=ENST00000261448" 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=CASQ2" 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=CASQ2" 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+845" 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/CASQ2" 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:845" 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/845" 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=chr1&hgg_gene=ENST00000261448.6&hgg_start=115700021&hgg_end=115768714&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:1513" 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:1513" 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://medlineplus.gov/genetics/gene/casq2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=114251[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=114251[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/ENSG00000118729" 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=CASQ2" 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=CASQ2" 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=CASQ2" 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=CASQ2&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/PA26096" 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:1513" 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:1309469" 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/CASQ2#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:1309469" 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/845/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=845" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00000822;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-010724-12" 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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:845" 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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<div><a href="https://reactome.org/content/query?q=CASQ2&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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114251
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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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CALSEQUESTRIN 2; CASQ2
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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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CALSEQUESTRIN, FAST-TWITCH, CARDIAC MUSCLE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CASQ2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CASQ2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/1/951?start=-3&limit=10&highlight=951">1p13.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:115700021-115768714&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'})">1:115,700,021-115,768,714</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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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>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
|
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<a href="/geneMap/1/951?start=-3&limit=10&highlight=951">
|
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1p13.1
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Ventricular tachycardia, catecholaminergic polymorphic, 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611938"> 611938 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</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">
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<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>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/114251" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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|
<li><a href="/graph/radial/114251" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<p>Cardiac muscle sarcoplasmic reticulum (SR) contains a cardiac isoform of calsequestrin. See <a href="/entry/114250">114250</a> for the isoform in skeletal muscle. The CASQ2 protein serves as the major calcium ion reservoir within the sarcoplasmic reticulum of cardiac myocytes and is part of a protein complex that contains the ryanodine receptor.</p>
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<p><a href="#1" class="mim-tip-reference" title="di Barletta, M. R., Viatchenko-Karpinski, S., Nori, A., Memmi, M., Terentyev, D., Turcato, F., Valle, G., Rizzi, N., Napolitano, C., Gyorke, S., Volpe, P., Priori, S. G. <strong>Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia.</strong> Circulation 114: 1012-1019, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16908766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16908766</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.106.623793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16908766">Di Barletta et al. (2006)</a> noted that the CASQ2 gene contains 11 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16908766" 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 fluorescence in situ hybridization, <a href="#4" class="mim-tip-reference" title="Otsu, K., Fujii, J., Periasamy, M., Difilippantonio, M., Uppender, M., Ward, D. C., MacLennan, D. H. <strong>Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes.</strong> Genomics 17: 507-509, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8406504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8406504</a>] [<a href="https://doi.org/10.1006/geno.1993.1357" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8406504">Otsu et al. (1993)</a> mapped the CASQ2 gene to chromosome 1p13.3-p11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8406504" 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 affected members of 7 consanguineous Bedouin families in Israel segregating an autosomal recessive form of catecholamine-induced polymorphic ventricular tachycardia (CPVT2; <a href="/entry/611938">611938</a>), <a href="#3" class="mim-tip-reference" title="Lahat, H., Pras, E., Olender, T., Avidan, N., Ben-Asher, E., Man, O., Levy-Nissenbaum, E., Khoury, A., Lorber, A., Goldman, B., Lancet, D., Eldar, M. <strong>A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.</strong> Am. J. Hum. Genet. 69: 1378-1384, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11704930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11704930</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11704930[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/10.1086/324565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11704930">Lahat et al. (2001)</a> identified a mutation in a highly conserved region of the CASQ2 gene (D307H; <a href="#0001">114251.0001</a>). The mutation converts a negatively charged aspartic acid into a positively charged histidine in a highly negatively charged domain, and was thought to exert its deleterious effect by disrupting Ca(2+) binding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11704930" 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="di Barletta, M. R., Viatchenko-Karpinski, S., Nori, A., Memmi, M., Terentyev, D., Turcato, F., Valle, G., Rizzi, N., Napolitano, C., Gyorke, S., Volpe, P., Priori, S. G. <strong>Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia.</strong> Circulation 114: 1012-1019, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16908766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16908766</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.106.623793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16908766">Di Barletta et al. (2006)</a> analyzed the CASQ2 gene in 2 unrelated probands with catecholamine-induced PVT and identified homozygosity for a 16-bp deletion (<a href="#0002">114251.0002</a>) and compound heterozygosity for the 16-bp deletion and a missense mutation (<a href="#0003">114251.0003</a>), respectively. In vitro characterization of both mutants showed reduction of active SR Ca(2+) release and calcium content; mutant CASQ2 containing the 16-bp deletion also showed altered calcium-binding properties and led to delayed afterdepolarizations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16908766" 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="Knollmann, B. C., Chopra, N., Hlaing, T., Akin, B., Yang, T., Ettensohn, K., Knollmann, B. E. C., Horton, K. D., Weissman, N. J., Holinstat, I., Zhang, W., Roden, D. M., Jones, L. R., Franzini-Armstrong, C., Pfeifer, K. <strong>Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca(2+) release, and catecholaminergic polymorphic ventricular tachycardia.</strong> J. Clin. Invest. 116: 2510-2520, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16932808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16932808</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16932808[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/10.1172/JCI29128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16932808">Knollmann et al. (2006)</a> generated Casq2-null mice which were viable and displayed normal release of Ca(2+) from the sarcoplasmic reticulum (SR) and contractile function under basal conditions. The mutant mice exhibited striking increases in SR volume and near absence of the Casq2-binding proteins triadin-1 (see <a href="/entry/603283">603283</a>) and junctin (<a href="/entry/600582">600582</a>). Exposure to catecholamines in Casq2-null myocytes caused increased diastolic SR Ca(2+) leak, resulting in premature spontaneous SR Ca(2+) releases and triggered beats; in vivo, Casq2-null mice phenocopied the human arrhythmias. <a href="#2" class="mim-tip-reference" title="Knollmann, B. C., Chopra, N., Hlaing, T., Akin, B., Yang, T., Ettensohn, K., Knollmann, B. E. C., Horton, K. D., Weissman, N. J., Holinstat, I., Zhang, W., Roden, D. M., Jones, L. R., Franzini-Armstrong, C., Pfeifer, K. <strong>Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca(2+) release, and catecholaminergic polymorphic ventricular tachycardia.</strong> J. Clin. Invest. 116: 2510-2520, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16932808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16932808</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16932808[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/10.1172/JCI29128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16932808">Knollmann et al. (2006)</a> concluded that whereas functional SR Ca(2+) storage and thus cardiac contractility are maintained in Casq2-null mice, lack of Casq2 causes increased diastolic SR Ca(2+) leak, resulting in susceptibility to catecholaminergic ventricular arrhythmias. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16932808" 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="#6" class="mim-tip-reference" title="Song, L., Alcalai, R., Arad, M., Wolf, C. M., Toka, O., Conner, D. A., Berul, C. I., Eldar, M., Seidman, C. E., Seidman, J. G. <strong>Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia.</strong> J. Clin. Invest. 117: 1814-1823, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17607358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17607358</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17607358[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/10.1172/JCI31080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17607358">Song et al. (2007)</a> generated mice homozygous for the human D307H mutation or a CASQ2-null mutation and observed identical consequences for both: young mutant mice had structurally normal hearts but stress-induced ventricular arrhythmias, and aging produced cardiac hypertrophy and reduced contractile function. Mutant myocytes had reduced Casq2 and increased calreticulin (<a href="/entry/109091">109091</a>) and ryanodine receptor-2 (RYR2; <a href="/entry/180902">180902</a>) but unchanged calstabin (FKBP1B; <a href="/entry/600620">600620</a>), as well as reduced total SR Ca(2+), prolonged Ca(2+) release, and delayed Ca(2)+ reuptake. Stress further diminished Ca(2+) transients, elevated cytosolic Ca(2+), and triggered frequent, spontaneous SR Ca(2+) release. Treatment with Mg(2+), a ryanodine receptor inhibitor, normalized myocyte Ca(2+) cycling and decreased CPVT in mutant mice, indicating that Ryr2 dysfunction was critical to mutant Casq2 pathophysiology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17607358" 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="#5" class="mim-tip-reference" title="Paolini, C., Quarta, M., D'Onofrio, L., Reggiani, C., Protasi, F. <strong>Differential effect of calsequestrin ablation on structure and function of fast and slow skeletal muscle fibers.</strong> J. Biomed. Biotech. 2011: 634075, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21941434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21941434</a>] [<a href="https://doi.org/10.1155/2011/634075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21941434">Paolini et al. (2011)</a> found that mice lacking both Casq1 (<a href="/entry/114250">114250</a>) and Casq2 (Casq-null mice) presented with reduced body mass. Casq-null soleus fibers, but not extensor digitorum longus (EDL) fibers, showed ultrastructural changes. Twitch time kinetics were prolonged in both isolated Casq-null soleus and EDL muscle, but tension was not reduced. When stimulated for 2 seconds at 100 Hz, Casq-null soleus muscle, but not Casq-null EDL muscle, was able to sustain contraction. <a href="#5" class="mim-tip-reference" title="Paolini, C., Quarta, M., D'Onofrio, L., Reggiani, C., Protasi, F. <strong>Differential effect of calsequestrin ablation on structure and function of fast and slow skeletal muscle fibers.</strong> J. Biomed. Biotech. 2011: 634075, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21941434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21941434</a>] [<a href="https://doi.org/10.1155/2011/634075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21941434">Paolini et al. (2011)</a> concluded that slow fibers can function in the absence of CASQ because they require lower Ca(2+) amounts and slower cycling to function properly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21941434" 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>.0001 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2</strong>
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<p>In affected members of 7 consanguineous Bedouin families in Israel segregating autosomal recessive catecholamine-induced polymorphic ventricular tachycardia (CPVT2; <a href="/entry/611938">611938</a>), <a href="#3" class="mim-tip-reference" title="Lahat, H., Pras, E., Olender, T., Avidan, N., Ben-Asher, E., Man, O., Levy-Nissenbaum, E., Khoury, A., Lorber, A., Goldman, B., Lancet, D., Eldar, M. <strong>A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.</strong> Am. J. Hum. Genet. 69: 1378-1384, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11704930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11704930</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11704930[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/10.1086/324565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11704930">Lahat et al. (2001)</a> identified homozygosity for a 1038G-C transversion in exon 9 of the CASQ2 gene, resulting in an asp307-to-his (D307H) substitution at a highly conserved residue. The mutation was not found in 350 Israeli Jewish, Arab, and Bedouin controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11704930" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2</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">rs786205106 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205106;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=rs786205106" 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=rs786205106" 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=RCV000019177 OR RCV000170902 OR RCV002513117" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019177, RCV000170902, RCV002513117" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019177...</a>
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<p>In a 6-year-old boy with catecholaminergic polymorphic ventricular tachycardia (CPVT2; <a href="/entry/611938">611938</a>), <a href="#1" class="mim-tip-reference" title="di Barletta, M. R., Viatchenko-Karpinski, S., Nori, A., Memmi, M., Terentyev, D., Turcato, F., Valle, G., Rizzi, N., Napolitano, C., Gyorke, S., Volpe, P., Priori, S. G. <strong>Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia.</strong> Circulation 114: 1012-1019, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16908766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16908766</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.106.623793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16908766">di Barletta et al. (2006)</a> identified homozygosity for a 16-bp deletion (339del16) in exon 3 of the CASQ2 gene, predicted to generate a frameshift and result in a stop codon 5 amino acids downstream. Asymptomatic family members were found to be heterozygous carriers of the deletion; none of them developed ventricular arrhythmias during Holter or exercise stress test. Ca(2+) overlay experiments showed that CASQ2 containing the 16-bp deletion did not bind calcium. When expressed in rat myocytes, the 16-bp deletion-containing mutant decreased sarcoplasmic reticulum Ca(2+) storing capacity and reduced the amplitude of I(Ca)-induced Ca(2+) transients and of spontaneous Ca(2+) sparks in permeabilized myocytes, although the effects observed with the 16-bp deletion were much more prominent than those with L167H (<a href="#0003">114251.0003</a>) mutant. Mutant myocytes with the 16-bp deletion exposed to isoproterenol developed delayed afterpolarizations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16908766" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2</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">rs121434550 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434550;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=rs121434550" 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=rs121434550" 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=RCV000019178" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019178" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019178</a>
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<p>In a 17-year-old girl with catecholaminergic polymorphic ventricular tachycardia (CPVT2; <a href="/entry/611938">611938</a>), <a href="#1" class="mim-tip-reference" title="di Barletta, M. R., Viatchenko-Karpinski, S., Nori, A., Memmi, M., Terentyev, D., Turcato, F., Valle, G., Rizzi, N., Napolitano, C., Gyorke, S., Volpe, P., Priori, S. G. <strong>Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia.</strong> Circulation 114: 1012-1019, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16908766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16908766</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.106.623793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16908766">di Barletta et al. (2006)</a> identified compound heterozygosity for a leu167-to-his (L167H) substitution and the 16-bp deletion (<a href="#0002">114251.0002</a>) in the CASQ2 gene. Her mother and maternal grandfather were asymptomatic carriers of the 16-bp deletion, whereas her father and 1 sister were asymptomatic carriers of the missense mutation. Ca(2+) overlay experiments showed that the L167H mutant had normal calcium-binding properties. When expressed in rat myocytes, however, the L167H mutant decreased sarcoplasmic reticulum Ca(2+) storing capacity and reduced the amplitude of I(Ca)-induced Ca(2+) transients and of spontaneous Ca(2+) sparks in permeabilized myocytes, although to a lesser extent than observed with the 16-bp deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16908766" 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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di Barletta, M. R., Viatchenko-Karpinski, S., Nori, A., Memmi, M., Terentyev, D., Turcato, F., Valle, G., Rizzi, N., Napolitano, C., Gyorke, S., Volpe, P., Priori, S. G.
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<strong>Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia.</strong>
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Circulation 114: 1012-1019, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16908766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16908766</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16908766" 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/10.1161/CIRCULATIONAHA.106.623793" target="_blank">Full Text</a>]
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Knollmann, B. C., Chopra, N., Hlaing, T., Akin, B., Yang, T., Ettensohn, K., Knollmann, B. E. C., Horton, K. D., Weissman, N. J., Holinstat, I., Zhang, W., Roden, D. M., Jones, L. R., Franzini-Armstrong, C., Pfeifer, K.
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<strong>Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca(2+) release, and catecholaminergic polymorphic ventricular tachycardia.</strong>
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J. Clin. Invest. 116: 2510-2520, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16932808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16932808</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16932808[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=16932808" 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/10.1172/JCI29128" target="_blank">Full Text</a>]
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Lahat, H., Pras, E., Olender, T., Avidan, N., Ben-Asher, E., Man, O., Levy-Nissenbaum, E., Khoury, A., Lorber, A., Goldman, B., Lancet, D., Eldar, M.
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<strong>A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.</strong>
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Am. J. Hum. Genet. 69: 1378-1384, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11704930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11704930</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11704930[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=11704930" 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/10.1086/324565" target="_blank">Full Text</a>]
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Otsu, K., Fujii, J., Periasamy, M., Difilippantonio, M., Uppender, M., Ward, D. C., MacLennan, D. H.
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<strong>Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes.</strong>
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Genomics 17: 507-509, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8406504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8406504</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8406504" 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/10.1006/geno.1993.1357" target="_blank">Full Text</a>]
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Paolini, C., Quarta, M., D'Onofrio, L., Reggiani, C., Protasi, F.
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<strong>Differential effect of calsequestrin ablation on structure and function of fast and slow skeletal muscle fibers.</strong>
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J. Biomed. Biotech. 2011: 634075, 2011. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21941434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21941434</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21941434" 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/10.1155/2011/634075" target="_blank">Full Text</a>]
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Song, L., Alcalai, R., Arad, M., Wolf, C. M., Toka, O., Conner, D. A., Berul, C. I., Eldar, M., Seidman, C. E., Seidman, J. G.
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<strong>Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia.</strong>
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J. Clin. Invest. 117: 1814-1823, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17607358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17607358</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17607358[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=17607358" 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/10.1172/JCI31080" target="_blank">Full Text</a>]
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Patricia A. Hartz - updated : 3/17/2015
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Marla J. F. O'Neill - updated : 4/10/2008<br>Marla J. F. O'Neill - updated : 8/2/2007<br>Marla J. F. O'Neill - updated : 1/19/2007<br>Victor A. McKusick - updated : 12/20/2001
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 8/25/1993
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</span>
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</div>
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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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<span class="mim-text-font">
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alopez : 08/04/2016
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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mgross : 04/08/2015<br>mcolton : 3/17/2015<br>wwang : 5/25/2011<br>carol : 1/27/2009<br>wwang : 4/10/2008<br>wwang : 4/10/2008<br>wwang : 8/15/2007<br>terry : 8/2/2007<br>carol : 1/22/2007<br>terry : 1/19/2007<br>carol : 12/21/2001<br>carol : 12/21/2001<br>terry : 12/20/2001<br>psherman : 5/23/2000<br>carol : 8/25/1993
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<h3>
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<span class="mim-font">
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<strong>*</strong> 114251
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</h3>
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<h3>
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CALSEQUESTRIN 2; CASQ2
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</h3>
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</div>
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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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</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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CALSEQUESTRIN, FAST-TWITCH, CARDIAC MUSCLE
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</h4>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CASQ2</em></strong>
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</span>
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</p>
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</div>
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<strong>
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<em>
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Cytogenetic location: 1p13.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:115,700,021-115,768,714 </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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<h4>
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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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</h4>
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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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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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<th>
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Inheritance
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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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1p13.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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Ventricular tachycardia, catecholaminergic polymorphic, 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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611938
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</table>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Cardiac muscle sarcoplasmic reticulum (SR) contains a cardiac isoform of calsequestrin. See 114250 for the isoform in skeletal muscle. The CASQ2 protein serves as the major calcium ion reservoir within the sarcoplasmic reticulum of cardiac myocytes and is part of a protein complex that contains the ryanodine receptor.</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>Di Barletta et al. (2006) noted that the CASQ2 gene contains 11 exons. </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 fluorescence in situ hybridization, Otsu et al. (1993) mapped the CASQ2 gene to chromosome 1p13.3-p11. </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 affected members of 7 consanguineous Bedouin families in Israel segregating an autosomal recessive form of catecholamine-induced polymorphic ventricular tachycardia (CPVT2; 611938), Lahat et al. (2001) identified a mutation in a highly conserved region of the CASQ2 gene (D307H; 114251.0001). The mutation converts a negatively charged aspartic acid into a positively charged histidine in a highly negatively charged domain, and was thought to exert its deleterious effect by disrupting Ca(2+) binding. </p><p>Di Barletta et al. (2006) analyzed the CASQ2 gene in 2 unrelated probands with catecholamine-induced PVT and identified homozygosity for a 16-bp deletion (114251.0002) and compound heterozygosity for the 16-bp deletion and a missense mutation (114251.0003), respectively. In vitro characterization of both mutants showed reduction of active SR Ca(2+) release and calcium content; mutant CASQ2 containing the 16-bp deletion also showed altered calcium-binding properties and led to delayed afterdepolarizations. </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>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>Knollmann et al. (2006) generated Casq2-null mice which were viable and displayed normal release of Ca(2+) from the sarcoplasmic reticulum (SR) and contractile function under basal conditions. The mutant mice exhibited striking increases in SR volume and near absence of the Casq2-binding proteins triadin-1 (see 603283) and junctin (600582). Exposure to catecholamines in Casq2-null myocytes caused increased diastolic SR Ca(2+) leak, resulting in premature spontaneous SR Ca(2+) releases and triggered beats; in vivo, Casq2-null mice phenocopied the human arrhythmias. Knollmann et al. (2006) concluded that whereas functional SR Ca(2+) storage and thus cardiac contractility are maintained in Casq2-null mice, lack of Casq2 causes increased diastolic SR Ca(2+) leak, resulting in susceptibility to catecholaminergic ventricular arrhythmias. </p><p>Song et al. (2007) generated mice homozygous for the human D307H mutation or a CASQ2-null mutation and observed identical consequences for both: young mutant mice had structurally normal hearts but stress-induced ventricular arrhythmias, and aging produced cardiac hypertrophy and reduced contractile function. Mutant myocytes had reduced Casq2 and increased calreticulin (109091) and ryanodine receptor-2 (RYR2; 180902) but unchanged calstabin (FKBP1B; 600620), as well as reduced total SR Ca(2+), prolonged Ca(2+) release, and delayed Ca(2)+ reuptake. Stress further diminished Ca(2+) transients, elevated cytosolic Ca(2+), and triggered frequent, spontaneous SR Ca(2+) release. Treatment with Mg(2+), a ryanodine receptor inhibitor, normalized myocyte Ca(2+) cycling and decreased CPVT in mutant mice, indicating that Ryr2 dysfunction was critical to mutant Casq2 pathophysiology. </p><p>Paolini et al. (2011) found that mice lacking both Casq1 (114250) and Casq2 (Casq-null mice) presented with reduced body mass. Casq-null soleus fibers, but not extensor digitorum longus (EDL) fibers, showed ultrastructural changes. Twitch time kinetics were prolonged in both isolated Casq-null soleus and EDL muscle, but tension was not reduced. When stimulated for 2 seconds at 100 Hz, Casq-null soleus muscle, but not Casq-null EDL muscle, was able to sustain contraction. Paolini et al. (2011) concluded that slow fibers can function in the absence of CASQ because they require lower Ca(2+) amounts and slower cycling to function properly. </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>3 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 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CASQ2, ASP307HIS
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<br />
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SNP: rs121434549,
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gnomAD: rs121434549,
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ClinVar: RCV000019176
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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 affected members of 7 consanguineous Bedouin families in Israel segregating autosomal recessive catecholamine-induced polymorphic ventricular tachycardia (CPVT2; 611938), Lahat et al. (2001) identified homozygosity for a 1038G-C transversion in exon 9 of the CASQ2 gene, resulting in an asp307-to-his (D307H) substitution at a highly conserved residue. The mutation was not found in 350 Israeli Jewish, Arab, and Bedouin controls. </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 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CASQ2, 16-BP DEL, NT339
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<br />
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SNP: rs786205106,
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ClinVar: RCV000019177, RCV000170902, RCV002513117
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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 6-year-old boy with catecholaminergic polymorphic ventricular tachycardia (CPVT2; 611938), di Barletta et al. (2006) identified homozygosity for a 16-bp deletion (339del16) in exon 3 of the CASQ2 gene, predicted to generate a frameshift and result in a stop codon 5 amino acids downstream. Asymptomatic family members were found to be heterozygous carriers of the deletion; none of them developed ventricular arrhythmias during Holter or exercise stress test. Ca(2+) overlay experiments showed that CASQ2 containing the 16-bp deletion did not bind calcium. When expressed in rat myocytes, the 16-bp deletion-containing mutant decreased sarcoplasmic reticulum Ca(2+) storing capacity and reduced the amplitude of I(Ca)-induced Ca(2+) transients and of spontaneous Ca(2+) sparks in permeabilized myocytes, although the effects observed with the 16-bp deletion were much more prominent than those with L167H (114251.0003) mutant. Mutant myocytes with the 16-bp deletion exposed to isoproterenol developed delayed afterpolarizations. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CASQ2, LEU167HIS
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<br />
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SNP: rs121434550,
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ClinVar: RCV000019178
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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 17-year-old girl with catecholaminergic polymorphic ventricular tachycardia (CPVT2; 611938), di Barletta et al. (2006) identified compound heterozygosity for a leu167-to-his (L167H) substitution and the 16-bp deletion (114251.0002) in the CASQ2 gene. Her mother and maternal grandfather were asymptomatic carriers of the 16-bp deletion, whereas her father and 1 sister were asymptomatic carriers of the missense mutation. Ca(2+) overlay experiments showed that the L167H mutant had normal calcium-binding properties. When expressed in rat myocytes, however, the L167H mutant decreased sarcoplasmic reticulum Ca(2+) storing capacity and reduced the amplitude of I(Ca)-induced Ca(2+) transients and of spontaneous Ca(2+) sparks in permeabilized myocytes, although to a lesser extent than observed with the 16-bp deletion. </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>REFERENCES</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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<ol>
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<li>
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<p class="mim-text-font">
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di Barletta, M. R., Viatchenko-Karpinski, S., Nori, A., Memmi, M., Terentyev, D., Turcato, F., Valle, G., Rizzi, N., Napolitano, C., Gyorke, S., Volpe, P., Priori, S. G.
|
|
<strong>Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia.</strong>
|
|
Circulation 114: 1012-1019, 2006.
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[PubMed: 16908766]
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[Full Text: https://doi.org/10.1161/CIRCULATIONAHA.106.623793]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Knollmann, B. C., Chopra, N., Hlaing, T., Akin, B., Yang, T., Ettensohn, K., Knollmann, B. E. C., Horton, K. D., Weissman, N. J., Holinstat, I., Zhang, W., Roden, D. M., Jones, L. R., Franzini-Armstrong, C., Pfeifer, K.
|
|
<strong>Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca(2+) release, and catecholaminergic polymorphic ventricular tachycardia.</strong>
|
|
J. Clin. Invest. 116: 2510-2520, 2006.
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[PubMed: 16932808]
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[Full Text: https://doi.org/10.1172/JCI29128]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Lahat, H., Pras, E., Olender, T., Avidan, N., Ben-Asher, E., Man, O., Levy-Nissenbaum, E., Khoury, A., Lorber, A., Goldman, B., Lancet, D., Eldar, M.
|
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<strong>A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.</strong>
|
|
Am. J. Hum. Genet. 69: 1378-1384, 2001.
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[PubMed: 11704930]
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[Full Text: https://doi.org/10.1086/324565]
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Otsu, K., Fujii, J., Periasamy, M., Difilippantonio, M., Uppender, M., Ward, D. C., MacLennan, D. H.
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<strong>Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes.</strong>
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Paolini, C., Quarta, M., D'Onofrio, L., Reggiani, C., Protasi, F.
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<strong>Differential effect of calsequestrin ablation on structure and function of fast and slow skeletal muscle fibers.</strong>
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[Full Text: https://doi.org/10.1155/2011/634075]
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Song, L., Alcalai, R., Arad, M., Wolf, C. M., Toka, O., Conner, D. A., Berul, C. I., Eldar, M., Seidman, C. E., Seidman, J. G.
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[PubMed: 17607358]
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[Full Text: https://doi.org/10.1172/JCI31080]
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Patricia A. Hartz - updated : 3/17/2015<br>Marla J. F. O'Neill - updated : 4/10/2008<br>Marla J. F. O'Neill - updated : 8/2/2007<br>Marla J. F. O'Neill - updated : 1/19/2007<br>Victor A. McKusick - updated : 12/20/2001
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Victor A. McKusick : 8/25/1993
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